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460 W 12th Ave
Columbus, OH 43210

Phone: (614) 688-4781

Email: de-la-chapelle.1@osu.edu

 

Current OSU Appointments

Professor, SBS-Molec Vir, Imm & Med Gen

Professor, Molecular Genetics Admin

 

Advising Narrative

Biological Sciences Biological Sciences

Academic Advising

1998 - present Heejei Yoon The Ohio State University. Graduated 2006. Molecular Genetics of Thyroid Cancer
2009 - present Amy Dworkin The Ohio State University. Genetic Susceptibility of Squamous Cell Carcinoma in Organ Transplant Recipients
2009 - present Kemal Cubukcu The Ohio State University.
 

Chapters in Books

Dr Albert De La Chapelle. "En poliklinik for tonaringar (Clinic for teenagers)." In fors Lakartidn. 73-77. Helsinki, FI|FIN: unknown, January 1961.

Van den Berghe H, de la Chapelle A, Rowley J, Trent MJ, Spira MJ, Kaiser-McCaw B. "Workshop on Cancer Cytogenetics." In Progress in cllinical and biologica research. 103B, Human Genetics, Part B: Medical Aspects ed. Edited by B Bonne-Tamir. 267-270. New York: Alan R. Liss, January 1982.

Dr Albert De La Chapelle. "The map of the human X chromosome." In Genetic control of gamete production and function. Edited by PG Crosignani & BL Rubin. 33-48. Unknown: Acdemic Press, January 1982.

Dr Albert De La Chapelle. "Sex chromosome abnormalities." In The principles and practice of medical geneticd. Edited by AEH Emery & DL Rimoin. 615-616. Unknown: Churchill Livinstone, January 1983.

Dr Albert De La Chapelle. "The origin of XX males." In Cytogenetics of the mammalian X-chromosome, Part B: Progress and topics in cytogenetics. Edited by AA Sandberg. 75-85. New York: Alan Liss, January 1983.

Dr Albert De La Chapelle. "Chromosomal mechanisms in neoplasia." In Medical Genetics: Past, Present, Future. Edited by K Berg. 139-152. New York, NY, US|USA: Alan Liss, January 1985.

Dr Albert De La Chapelle. "Chromosome abnormalities in burkitt lymphoma nad Burkitt-type acute lymphoblastic leukemia." In Malignant Lymphomas and Hodgkin's Disease: Experimental and Therapeutic Advances. Edited by F Cavalli, G Bonadonna & M Rozencweig. 89-90. Boston, MA, US|USA: Martinus Nijhoff, January 1985.

Dr Albert De La Chapelle. "Kromosomit syovan synnyssa; syovan periytyminen (Chromosomes in the etiology of cancer; the inheritance of cancer)." In Syovan Biologia. Edited by k Alitalo, L Andersson, L Teppo, A Vaheri. 117-134. Helsinki: Werner Soderstrom Porvoo, January 1985.

Dr Albert De La Chapelle. "Sex chromosome abnormalities." In The principles and practice of medical genetics. 2nd ed. Vol. 1. Edited by AEH Emery & DL Rimoin. 273-299. Unknown: Churchill Livingstone, January 1990.

Maury CPJ, Tornroth T, Boysen G, de la Chapelle A, Rossi H. "Familial gelsolin amyloidosis, Danish subtype (tyr-187): immunohistochemical localization of amyloid with antigelsolin antibodies." In Amyloid and Amyloidosis. Edited by R Kisilevsky, MD Benson, B Frangione, J Gauldie, TJ Muckle & ID Young. 231-242. New York, NY, US|USA: Parthenon Publishing, January 1993.

de la Chapelle A, Alitalo T, Forsius H. "X-linked juvenile retinoschisis." In z,p;rvi;st Hrmryovd pg zomjrtoyrf Rur Fodptfrtd. Edited by AF Wright and B Jay. 339-357. Chur, CH|CHE: Harwood Academic Publishers, January 1994.

Dr Albert De La Chapelle. "Sex chromosome abnormalities." In Emery and Rimoin's principles and practice of medical genetics. 3rd ed. Vol. 1. Edited by DL Rimoin, JM Conner and RE Pyeritz. 973-997. unknown: Churchill Livingstone, January 1996.

Peltomaki P, de la Chapelle A. "Mutations predisposing to hereditary nonpolyposis colorectal cancer." In Advances in Cancer Research. Vol. 71. Edited by GF Vande Woude, G Klein. 93-119. San Diego, CA, US|USA: Academic Press, January 1997.

Dr Albert De La Chapelle. "Humangenetisk forskning sedan 1961." In The 50th anniversary publication of the Sigrid Juselius Foundation. 49-52. Helsingfors: Sigrid Juselius Foundation, January 1999.

Dr Albert De La Chapelle. "Geenimutaatiot Suomen vaeston juurten tutkimuksissa.." In Bidrag till kannedom on Finlands natur och folk. Edited by P. Fogelberg. 307-310. Helsinki: unknown, January 1999.

Page,DC, Brown LG, de La Chapelle A. "Exchange of terminal portions of X-and Y-chromosomal short arms in human XX males." In Sex and the brain: A reader. Edited by MIT press. -. Boston: MIT press, January 2007.

 

Degrees

1957 M.D., University of Helsinki

1962 Ph.D., University of Helsinki

 

Editorial Activities

1975 - 2007 Excerpta Medica, Human Genetics
1975 - 2007 Annales de Genetique
1987 - 2007 Genomics
1989 - 2007 Genes, Chromosomes Cancer
1991 - 2007 Human Mutation
1991 - 2007 European Journal of Human Genetics
1997 - 2007 Community Genetics
1997 - 2007 Blood Cells, Molecules & Diseases
1999 - 2007 International Journal of Cancer
1999 - 2007 Familial Cancer
1999 - 2007 Haematologica
2000 - 2007 Clinical Genetics
2004 - 2007 Current Cancer Therapy Reviews
2006 - 2007 Journal of Clinical Oncology
 

Honors

1962 J.W. Runeberg Prize for Research. The Finnish Medical Society.
1975 Member, Finska Vetenskapssocieteten. Finland's Senior Academy of Sciences and Letters.
1981 E.J. Nystrom Prize for Research. Finland's Senior Academy of Sciences and Letters.
1984 Commander of the Order of the Finnish Lion.
1985 150 Year Anniversary Prize for Researach. The Finnish Medical Society.
1988 Jubilee Medal 1958 in Broze with Diploma. The Swedish Society of Medicine.
1989 175 Year Anniversary Commemorative Medal. Oslo University School of Medicine.
1989 The Anders Jahre Prize for Medicine. University of Oslo, Sweden.
1990 The Matti Ayrapaa Prize for Medicine. Medical Society Fuodecim, Finland.
1991 Royal Swedish Academy of Sciences. Royal Swedish Academy of Sciences.
1992 Comander, of the Order of the White Rose of Finland. Finland.
1994 International Phoenix - Anni Verdi Award for Genetic Research. Italy.
1995 Honorary Doctorate. University of Oulu.
1995 Honorary Doctorate. University of Uppsala.
1996 Esko Nikkila Lecturer.
1996 Hamilton Fairley Award. European Society for Medical Oncology.
1997 Fellow ("one of twelve") of the Academy of Finland.
1997 National Academy of Sciences.
1998 Tim de Dombal Award and Lectureship. World Congress of Gastroenterology.
1998 Wick R. Williams Memorial Award.
1998 Simon M. Shubitz Award.
2002 AAAS Fellow.
2002 William Allan Award.
2002 Mauro Baschirotto Award for Outstanding Achievement in Human Genetics, European Society of Human Genetics. European Society of Human Genetics.
2003 The Ossian Schauman Medal. Samfundat Folkhalsan.
2003 Niilo Voipio Award. The Finnish Cancer Organizations.
2004 Distinguished University Professor. Office of Academic Affairs.
2006 GfH Medal of Honor.
 

Journal Articles

Hastbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A, Coloma A, Lovett M, Buckler A, Kaitila I, Lander ES. "The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping." Cell. Vol. 78, (January 1994.): 1073-1087.

Aminoff, M; Tahvanainen, E; Grasbeck, R; Weissenbach, J; Broch, H; de la Chapelle, A. "Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.." American journal of human genetics. Vol. 57, no. 4. (January 1995.): 824-31.

Sulisalo, T; van der Burgt, I; Rimoin, D, L; Bonaventure, J; Sillence, D; Campbell, J, B; Chitayat, D; Scott, C, I; de la Chapelle, A; Sistonen, P. "Genetic homogeneity of cartilage-hair hypoplasia.." Human genetics. Vol. 95, no. 2. (January 1995.): 157-60.

Ranta, S; Pihko, H; Santavuori, P; Tahvanainen, E; de la Chapelle, A. "Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.." Neuromuscular disorders : NMD. Vol. 5, no. 3. (January 1995.): 221-5.

Wang, I; Weil, D; Levilliers, J; Affara, N, A; de la Chapelle, A; Petit, C. "Prevalence and molecular analysis of two hot spots for ectopic recombination leading to XX maleness.." Genomics. Vol. 28, no. 1. (January 1995.): 52-8.

Wallgren-Pettersson C, Avela K, Marchand S, Kolehmainen J, Tahvanainen E, Juul Hansen F, Mutoni F, Dubowitz V, de Visser M, van Langen IM, Laing NG, Faure S, de la Chapelle A. "A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis." Neuromusc. Disord. Vol. 5, (January 1995.): 441-443.

Reijo R, Lee T-Y, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, de la Chapelle A, Silber S, Page DC. "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene." Nature Genetics. Vol. 10, (January 1995.): 383-393.

Guldberg, P; Henriksen, K, F; Sipila, I; Guttler, F; de la Chapelle, A. "Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.." Journal of medical genetics. Vol. 32, no. 12. (January 1995.): 976-8.

de la Chapelle, A; Peltomaki, P. "Genetics of hereditary colon cancer.." Annual review of genetics. Vol. 29, (January 1995.): 329-348.

da Costa, L, T; Liu, B; el-Deiry, W; Hamilton, S, R; Kinzler, K, W; Vogelstein, B; Markowitz, S; Willson, J, K; de la Chapelle, A; Downey, K M. "Polymerase delta variants in RER colorectal tumours.." Nature genetics. Vol. 9, no. 1. (January 1995.): 10-1.

Tannergard P, Nordenskjold M, Lindblom A, Nystrom-Lahti M, de la Chapelle A, Peltomaki P. "Finnish mutations in Swedish HNPCC families." Nature Medicine. Vol. 1, (January 1995.): 1104 and 1319-.

Tahvanainen, E; Forsius, H; Karila, E; Ranta, S; Eerola, M; Weissenbach, J; Sistonen, P; de la Chapelle, A. "Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis.." Genomics. Vol. 26, no. 2. (January 1995.): 290-3.

Tahvanainen, E; Forsius, H; Damsten, M; Karila, E; Kolehmainen, J; Weissenbach, J; Sistonen, P; de la Chapelle, A. "Linkage disequilibrium mapping of the cornea plana congenita gene CNA2.." Genomics. Vol. 30, no. 3. (January 1995.): 409-14.

Sankila, E, M; Pakarinen, L; Kaariainen, H; Aittomaki, K; Karjalainen, S; Sistonen, P; de la Chapelle, A. "Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.." Human molecular genetics. Vol. 4, no. 1. (January 1995.): 93-8.

Salo, P; Kaariainen, H; Petrovic, V; Peltomaki, P; Page, D, C; de la Chapelle, A. "Molecular mapping of the putative gonadoblastoma locus on the Y chromosome.." Genes, chromosomes & cancer. Vol. 14, no. 3. (January 1995.): 210-4.

Salo, P; Kaariainen, H; Page, D, C; de la Chapelle, A. "Deletion mapping of stature determinants on the long arm of the Y chromosome.." Human genetics. Vol. 95, no. 3. (January 1995.): 283-6.

Nystrom-Lahti M, Kristo P, Nicolaides NC, Chang S-Y, Aaltonen LA, Moisio A-L, Jarvinen HJ, Mecklin J-P, Kinzler KW, Vogelstein B, de la Chapelle A, Peltomaki P. "Founding mutations and Alu-mediated recombination in hereditary colon cancer." Nature Medicine. Vol. 1, (January 1995.): 1203-1206.

Liu, B; Nicolaides, N, C; Markowitz, S; Willson, J, K; Parsons, R, E; Jen, J; Papadopolous, N; Peltomaki, P; de la Chapelle, A; Hamilton, S R. "Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability.." Nature genetics. Vol. 9, no. 1. (January 1995.): 48-55.

Hoglund, P; Sistonen, P; Norio, R; Holmberg, C; Dimberg, A; Gustavson, K, H; de la Chapelle, A; Kere, J. "Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium.." American journal of human genetics. Vol. 57, no. 1. (January 1995.): 95-102.

Peterson, A, C; Di Rienzo, A; Lehesjoki, A, E; de la Chapelle, A; Slatkin, M; Freimer, N B. "The distribution of linkage disequilibrium over anonymous genome regions.." Human molecular genetics. Vol. 4, no. 5. (January 1995.): 887-94.

Makitie, O; Sulisalo, T; de la Chapelle, A; Kaitila, I. "Syndrome of the Month: Cartilage-hair hypoplasia.." Journal of medical genetics. Vol. 32, no. 1. (January 1995.): 39-43.

Aittomaki, K; Lucena, J, L; Pakarinen, P; Sistonen, P; Tapanainen, J; Gromoll, J; Kaskikari, R; Sankila, E, M; Lehvaslaiho, H; Engel, A, R; Nieschlag, E; Huhtaniemi, I; de la Chapelle, A. "Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.." Cell. Vol. 82, no. 6. (January 1995.): 959-68.

Canzian, F; Salovaara, R; Hemminki, A; Kristo, P; Chadwick, R, B; Aaltonen, L, A; de la Chapelle, A. "Semiautomated assessment of loss of heterozygosity and replication error in tumors.." Cancer research. Vol. 56, no. 14. (January 1996.): 3331-7.

Lynch, H, T; Drouhard, T; Vasen, H, F; Cavalieri, J; Lynch, J; Nord, S; Smyrk, T; Lanspa, S; Murphy, P; Whelan, K, L; Peters, J; de la Chapelle, A. "Genetic counseling in a Navajo hereditary nonpolyposis colorectal cancer kindred.." Cancer. Vol. 77, no. 1. (January 1996.): 30-5.

de la Chapelle, A. "Genetic testing may prevent hereditary nonpolyposis colorectal cancer. Hamilton Fairley Lecture, held at the ESMO Congress, Vienna, November 2-5, 1996.." Annals of oncology : official journal of the European Society for Medical Oncology / ESMO. Vol. 7, no. 9. (January 1996.): 883-5.

de la Chapelle, A. "[Helicopter Science]." Duodecim; laaketieteellinen aikakauskirja. Vol. 112, no. 14. (January 1996.): 1311-2.

de la Chapelle, A. "[Genetic testing may allow hereditary nonpolyosis colorectal cancer to be prevented]." Duodecim; laaketieteellinen aikakauskirja. Vol. 112, no. 15. (January 1996.): 1365-8.

Aittomaki, K; Tapanainen, J; Huhtaniemi, I; de la Chapelle, A. "[Inherited primary amenorrhea. The first gynecological disease of Finnish heritage]." Duodecim; laaketieteellinen aikakauskirja. Vol. 112, no. 1. (January 1996.): 9-11.

Aittomaki, K; Herva, R; Stenman, U, H; Juntunen, K; Ylostalo, P; Hovatta, O; de la Chapelle, A. "Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene.." The Journal of clinical endocrinology and metabolism. Vol. 81, no. 10. (January 1996.): 3722-6.

Hoglund, P; Haila, S; Socha, J; Tomaszewski, L; Saarialho-Kere, U; Karjalainen-Lindsberg, M, L; Airola, K; Holmberg, C; de la Chapelle, A; Kere, J. "Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.." Nature genetics. Vol. 14, no. 3. (January 1996.): 316-9.

Hoglund, P; Haila, S; Scherer, S, W; Tsui, L, C; Green, E, D; Weissenbach, J; Holmberg, C; de la Chapelle, A; Kere, J. "Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31.." Genome research. Vol. 6, no. 3. (January 1996.): 202-10.

Virtaneva, K; Miao, J; Traskelin, A, L; Stone, N; Warrington, J, A; Weissenbach, J; Myers, R, M; Cox, D, R; Sistonen, P; de la Chapelle, A. "Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.." American journal of human genetics. Vol. 58, no. 6. (January 1996.): 1247-53.

Ranta, S; Lehesjoki, A, E; Hirvasniemi, A; Weissenbach, J; Ross, B; Leal, S, M; de la Chapelle, A; Gilliam, T C. "Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.." Genome research. Vol. 6, no. 5. (January 1996.): 351-60.

Moisio, A, L; Sistonen, P; Weissenbach, J; de la Chapelle, A; Peltomaki, P. "Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.." American journal of human genetics. Vol. 59, no. 6. (January 1996.): 1243-51.

Leach, F, S; Polyak, K; Burrell, M; Johnson, K, A; Hill, D; Dunlop, M, G; Wyllie, A, H; Peltomaki, P; de la Chapelle, A; Hamilton, S, R; Kinzler, K, W; Vogelstein, B. "Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues.." Cancer research. Vol. 56, no. 2. (January 1996.): 235-40.

Tahvanainen, E; Villanueva, A, S; Forsius, H; Salo, P; de la Chapelle, A. "Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12.." Genome research. Vol. 6, no. 4. (January 1996.): 249-54.

Tahvanainen, E; Forsius, H; Kolehmainen, J; Damsten, M; Fellman, J; de la Chapelle, A. "The genetics of cornea plana congenita.." Journal of medical genetics. Vol. 33, no. 2. (January 1996.): 116-9.

Nystrom-Lahti, M; Wu, Y; Moisio, A, L; Hofstra, R, M; Osinga, J; Mecklin, J, P; Jarvinen, H, J; Leisti, J; Buys, C, H; de la Chapelle, A; Peltomaki, P. "DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.." Human molecular genetics. Vol. 5, no. 6. (January 1996.): 763-9.

Liu, B; Parsons, R; Papadopoulos, N; Nicolaides, N, C; Lynch, H, T; Watson, P; Jass, J, R; Dunlop, M; Wyllie, A; Peltomaki, P; de la Chapelle, A; Hamilton, S, R; Vogelstein, B; Kinzler, K W. "Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.." Nature medicine. Vol. 2, no. 2. (January 1996.): 169-74.

Stone, N, E; Fan, J, B; Willour, V; Pennacchio, L, A; Warrington, J, A; Hu, A; de la Chapelle, A; Lehesjoki, A, E; Cox, D, R; Myers, R M. "Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene.." Genome research. Vol. 6, no. 3. (January 1996.): 218-25.

Pennacchio, L, A; Lehesjoki, A, E; Stone, N, E; Willour, V, L; Virtaneva, K; Miao, J; D'Amato, E; Ramirez, L; Faham, M; Koskiniemi, M; Warrington, J, A; Norio, R; de la Chapelle, A; Cox, D, R; Myers, R M. "Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)." Science. Vol. 271, no. 5256. (January 1996.): 1731-4.

Kere, J; Srivastava, A, K; Montonen, O; Zonana, J; Thomas, N; Ferguson, B; Munoz, F; Morgan, D; Clarke, A; Baybayan, P; Chen, E, Y; Ezer, S; Saarialho-Kere, U; de la Chapelle, A; Schlessinger, D. "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.." Nature genetics. Vol. 13, no. 4. (January 1996.): 409-16.

Caligiuri, M, A; Strout, M, P; Oberkircher, A, R; Yu, F; de la Chapelle, A; Bloomfield, C D. "The partial tandem duplication of ALL1 in acute myeloid leukemia with normal cytogenetics or trisomy 11 is restricted to one chromosome.." Proceedings of the National Academy of Sciences of the United States of America. Vol. 94, no. 8. (January 1997.): 3899-902.

Wu, Y; Nystrom-Lahti, M; Osinga, J; Looman, M, W; Peltomaki, P; Aaltonen, L, A; de la Chapelle, A; Hofstra, R, M; Buys, C H. "MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.." Genes, chromosomes & cancer. Vol. 18, no. 4. (January 1997.): 269-78.

Ranta, S; Lehesjoki, A, E; de Fatima Bonaldo, M; Knowles, J, A; Hirvasniemi, A; Ross, B; de Jong, P, J; Soares, M, B; de la Chapelle, A; Gilliam, T C. "High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p.." Genome research. Vol. 7, no. 9. (January 1997.): 887-96.

Mrozek, K; Heinonen, K; de la Chapelle, A; Bloomfield, C D. "Clinical significance of cytogenetics in acute myeloid leukemia.." Seminars in oncology. Vol. 24, no. 1. (January 1997.): 17-31.

Huopaniemi, L; Rantala, A; Tahvanainen, E; de la Chapelle, A; Alitalo, T. "Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis.." American journal of human genetics. Vol. 60, no. 5. (January 1997.): 1139-49.

Huhtaniemi, I; Aittomaki, K; de la Chapelle, A; Tapanainen, J. "[Do men need follicle-stimulating hormone?]." Duodecim; laaketieteellinen aikakauskirja. Vol. 113, no. 6. (January 1997.): 465-6.

Avela, K; Lipsanen-Nyman, M; Perheentupa, J; Wallgren-Pettersson, C; Marchand, S; Faure, S; Sistonen, P; de la Chapelle, A; Lehesjoki, A E. "Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.." American journal of human genetics. Vol. 60, no. 4. (January 1997.): 896-902.

Sulisalo, T; Makitie, O; Sistonen, P; Ridanpaa, M; el-Rifai, W; Ruuskanen, O; de la Chapelle, A; Kaitila, I. "Uniparental disomy in cartilage-hair hypoplasia.." European journal of human genetics : EJHG. Vol. 5, no. 1. (January 1997.): 35-42.

Virtaneva, K; D'Amato, E; Miao, J; Koskiniemi, M; Norio, R; Avanzini, G; Franceschetti, S; Michelucci, R; Tassinari, C, A; Omer, S; Pennacchio, L, A; Myers, R, M; Dieguez-Lucena, J, L; Krahe, R; de la Chapelle, A; Lehesjoki, A E. "Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.." Nature genetics. Vol. 15, no. 4. (January 1997.): 393-6.

Peltomaki, P; de la Chapelle, A. "Mutations predisposing to hereditary nonpolyposis colorectal cancer.." Advances in cancer research. Vol. 71, (January 1997.): 93-119.

Pelin, K; Ridanpaa, M; Donner, K; Wilton, S; Krishnarajah, J; Laing, N; Kolmerer, B; Millevoi, S; Labeit, S; de la Chapelle, A; Wallgren-Petterson, C. "Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy.." European journal of human genetics : EJHG. Vol. 5, no. 4. (January 1997.): 229-34.

Laitinen, T; Kauppi, P; Ignatius, J; Ruotsalainen, T; Daly, M, J; Kaariainen, H; Kruglyak, L; Laitinen, H; de la Chapelle, A; Lander, E, S; Laitinen, L, A; Kere, J. "Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population.." Human molecular genetics. Vol. 6, no. 12. (January 1997.): 2069-76.

Kolehmainen, J; Norio, R; Kivitie-Kallio, S; Tahvanainen, E; de la Chapelle, A; Lehesjoki, A E. "Refined mapping of the Cohen syndrome gene by linkage disequilibrium.." European journal of human genetics : EJHG. Vol. 5, no. 4. (January 1997.): 206-13.

Hemminki, A; Tomlinson, I; Markie, D; Jarvinen, H; Sistonen, P; Bjorkqvist, A, M; Knuutila, S; Salovaara, R; Bodmer, W; Shibata, D; de la Chapelle, A; Aaltonen, L A. "Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis.." Nature genetics. Vol. 15, no. 1. (January 1997.): 87-90.

Helland, A; Borresen-Dale, A, L; Peltomaki, P; Hektoen, M; Kristensen, G, B; Nesland, J, M; de la Chapelle, A; Lothe, R A. "Microsatellite instability in cervical and endometrial carcinomas.." International journal of cancer. Journal international du cancer. Vol. 70, no. 5. (January 1997.): 499-501.

Virtaneva, K; Paulin, L; Krahe, R; de la Chapelle, A; Lehesjoki, A E. "The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online.." Human mutation. Vol. 12, no. 3. (January 1998.): 218-.

Schwartz, A; Chan, D, C; Brown, L, G; Alagappan, R; Pettay, D; Disteche, C; McGillivray, B; de la Chapelle, A; Page, D C. "Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination.." Human molecular genetics. Vol. 7, no. 1. (January 1998.): 1-11.

Percesepe, A; Kristo, P; Aaltonen, L, A; Ponz de Leon, M; de la Chapelle, A; Peltomaki, P. "Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability.." Oncogene. Vol. 17, no. 2. (January 1998.): 157-63.

Hemminki, A; Markie, D; Tomlinson, I; Avizienyte, E; Roth, S; Loukola, A; Bignell, G; Warren, W; Aminoff, M; Hoglund, P; Jarvinen, H; Kristo, P; Pelin, K; Ridanpaa, M; Salovaara, R; Toro, T; Bodmer, W; Olschwang, S; Olsen, A, S; Stratton, M, R; et al.. "A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.." Nature. Vol. 391, no. 6663. (January 1998.): 184-7.

Hemminki, A; Avizienyte, E; Roth, S; Loukola, A; Aaltonen, L, A; Jarvinen, H; de la Chapelle, A. "[A serine/threonine kinase gene defective in Peutz-Jeghers syndrome]." Duodecim; laaketieteellinen aikakauskirja. Vol. 114, no. 7. (January 1998.): 667-8.

Haila, S; Hoglund, P; Scherer, S, W; Lee, J, R; Kristo, P; Coyle, B; Trembath, R; Holmberg, C; de la Chapelle, A; Kere, J. "Genomic structure of the human congenital chloride diarrhea (CLD) gene.." Gene. Vol. 214, no. 1-2. (January 1998.): 87-93.

Holmberg, M; Kristo, P; Chadwicks, R, B; Mecklin, J, P; Jarvinen, H; de la Chapelle, A; Nystrom-Lahti, M; Peltomaki, P. "Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer. Mutations in brief no. 144. Online.." Human mutation. Vol. 11, no. 6. (January 1998.): 482-.

Hoglund, P; Haila, S; Gustavson, K, H; Taipale, M; Hannula, K; Popinska, K; Holmberg, C; Socha, J; de la Chapelle, A; Kere, J. "Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.." Human mutation. Vol. 11, no. 4. (January 1998.): 321-7.

Hoglund, P; Auranen, M; Socha, J; Popinska, K; Nazer, H; Rajaram, U; Al Sanie, A; Al-Ghanim, M; Holmberg, C; de la Chapelle, A; Kere, J. "Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.." American journal of human genetics. Vol. 63, no. 3. (January 1998.): 760-8.

de la Chapelle, A; Wright, F A. "Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.." Proceedings of the National Academy of Sciences of the United States of America. Vol. 95, no. 21. (January 1998.): 12416-23.

de la Chapelle, A; Peltomaki, P. "The genetics of hereditary common cancers.." Current opinion in genetics & development. Vol. 8, no. 3. (January 1998.): 298-303.

de La Chapelle, A; Deghmani, M; Dureuil, B. "[Peritoneal insufflation can be a critical moment in the laparoscopic surgery of pheochromocytoma]." Annales francaises danesthesie et de reanimation. Vol. 17, no. 9. (January 1998.): 1184-5.

Aaltonen, L, A; Salovaara, R; Kristo, P; Canzian, F; Hemminki, A; Peltomaki, P; Chadwick, R, B; Kaariainen, H; Eskelinen, M; Jarvinen, H; Mecklin, J, P; de la Chapelle, A. "Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease.." The New England journal of medicine. Vol. 338, no. 21. (January 1998.): 1481-7.

Olschwang, S; Markie, D; Seal, S; Neale, K; Phillips, R; Cottrell, S; Ellis, I; Hodgson, S; Zauber, P; Spigelman, A; Iwama, T; Loff, S; McKeown, C; Marchese, C; Sampson, J; Davies, S; Talbot, I; Wyke, J; Thomas, G; Bodmer, W; et al.. "Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.." Journal of medical genetics. Vol. 35, no. 1. (January 1998.): 42-4.

Jiang, M; Aittomaki, K; Nilsson, C; Pakarinen, P; Iitia, A; Torresani, T; Simonsen, H; Goh, V; Pettersson, K; de la Chapelle, A; Huhtaniemi, I. "The frequency of an inactivating point mutation (566CT) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. -->." The Journal of clinical endocrinology and metabolism. Vol. 83, no. 12. (January 1998.): 4338-43.

Caligiuri, M, A; Strout, M, P; Lawrence, D; Arthur, D, C; Baer, M, R; Yu, F; Knuutila, S; Mrozek, K; Oberkircher, A, R; Marcucci, G; de la Chapelle, A; Elonen, E; Block, A, W; Rao, P, N; Herzig, G, P; Powell, B, L; Ruutu, T; Schiffer, C, A; Bloomfield, C D. "Rearrangement of ALL1 (MLL) in acute myeloid leukemia with normal cytogenetics.." Cancer research. Vol. 58, no. 1. (January 1998.): 55-9.

Ala-Mello, S; Sankila, E, M; Koskimies, O; de la Chapelle, A; Kaariainen, H. "Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism.." Journal of medical genetics. Vol. 35, no. 4. (January 1998.): 279-83.

Ranta, S; Zhang, Y; Ross, B; Lonka, L; Takkunen, E; Messer, A; Sharp, J; Wheeler, R; Kusumi, K; Mole, S; Liu, W; Soares, M, B; Bonaldo, M, F; Hirvasniemi, A; de la Chapelle, A; Gilliam, T, C; Lehesjoki, A E. "The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.." Nature genetics. Vol. 23, no. 2. (January 1999.): 233-6.

Loukola, A; Salovaara, R; Kristo, P; Moisio, A, L; Kaariainen, H; Ahtola, H; Eskelinen, M; Harkonen, N; Julkunen, R; Kangas, E; Ojala, S; Tulikoura, J; Valkamo, E; Jarvinen, H; Mecklin, J, P; de la Chapelle, A; Aaltonen, L A. "Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer.." American journal of pathology. Vol. 155, no. 6. (January 1999.): 1849-53.

Loukola, A; de la Chapelle, A; Aaltonen, L A. "Strategies for screening for hereditary non-polyposis colorectal cancer.." Journal of medical genetics. Vol. 36, no. 11. (January 1999.): 819-22.

Deere, M; Dieguez, J, L; Yoon, S, J; Hewett-Emmett, D; de la Chapelle, A; Hecht, J T. "Genomic characterization of human DSPG3.." Genome research. Vol. 9, no. 5. (January 1999.): 449-56.

de la Chapelle, A. "Testing tumors for microsatellite instability.." European journal of human genetics : EJHG. Vol. 7, no. 4. (January 1999.): 407-8.

Aminoff, M; Carter, J, E; Chadwick, R, B; Johnson, C; Grasbeck, R; Abdelaal, M, A; Broch, H; Jenner, L, B; Verroust, P, J; Moestrup, S, K; de la Chapelle, A; Krahe, R. "Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.." Nature genetics. Vol. 21, no. 3. (January 1999.): 309-13.

Nystrom-Lahti, M; Holmberg, M; Fidalgo, P; Salovaara, R; de la Chapelle, A; Jiricny, J; Peltomaki, P. "Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds.." Genes, chromosomes & cancer. Vol. 26, no. 4. (January 1999.): 372-5.

Lynch, H, T; de la Chapelle, A. "Genetic susceptibility to non-polyposis colorectal cancer.." Journal of medical genetics. Vol. 36, no. 11. (January 1999.): 801-18.

Watowich, S, S; Xie, ; XKlingmuller, U; Kere, J; Lindlof, M; Berglund, S; de la Chapelle, A. "Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state.." Blood. Vol. 94, no. 7. (January 1999.): 2530-2.

Paavola, P; Avela, K; Horelli-Kuitunen, N; Barlund, M; Kallioniemi, A; Idanheimo, N; Kyttala, M; de la Chapelle, A; Palotie, A; Lehesjoki, A, E; Peltonen, L. "High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.." Genome research. Vol. 9, no. 3. (January 1999.): 267-76.

Hastbacka, J; Kerrebrock, A; Mokkala, K; Clines, G; Lovett, M; Kaitila, I; de la Chapelle, A; Lander, E S. "Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).." European journal of human genetics : EJHG. Vol. 7, no. 6. (January 1999.): 664-70.

Pyatt, R; Chadwick, R, B; Johnson, C, K; Adebamowo, C; de la Chapelle, A; Prior, T W. "Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing.." American journal of pathology. Vol. 155, no. 2. (January 1999.): 349-53.

Prior, T, W; Chadwick, R, B; Papp, A, C; Arcot, A, N; Isa, A, M; Pearl, D, K; Stemmermann, G; Percesepe, A; Loukola, A; Aaltonen, L, A; De La Chapelle, A. "The I1307K polymorphism of the APC gene in colorectal cancer.." Gastroenterology. Vol. 116, no. 1. (January 1999.): 58-63.

Moseley, R, H; Hoglund, P; Wu, G, D; Silberg, D, G; Haila, S; de la Chapelle, A; Holmberg, C; Kere, J. "Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea.." The American journal of physiology. Vol. 276, no. 1 Pt 1. (January 1999.): G185-92.

Huopaniemi, L; Rantala, A; Forsius, H; Somer, M; de la Chapelle, A; Alitalo, T. "Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.." European journal of human genetics : EJHG. Vol. 7, no. 3. (January 1999.): 368-76.

Huopaniemi, L; Fellman, J; Rantala, A; Eriksson, A; Forsius, H; De La Chapelle, A; Alitalo, T. "Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene.." Annals of human genetics. Vol. 63, no. Pt 6. (January 1999.): 521-33.

Cormand, B; Avela, K; Pihko, H; Santavuori, P; Talim, B; Topaloglu, H; de la Chapelle, A; Lehesjoki, A E. "Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.." American journal of human genetics. Vol. 64, no. 1. (January 1999.): 126-35.

Aarnio, M; Sankila, R; Pukkala, E; Salovaara, R; Aaltonen, L, A; de la Chapelle, A; Peltomaki, P; Mecklin, J, P; Jarvinen, H J. "Cancer risk in mutation carriers of DNA-mismatch-repair genes.." International journal of cancer. Journal international du cancer. Vol. 81, no. 2. (January 1999.): 214-8.

Wallgren-Pettersson, C; Pelin, K; Hilpela, P; Donner, K; Porfirio, B; Graziano, C; Swoboda, K, J; Fardeau, M; Urtizberea, J, A; Muntoni, F; Sewry, C; Dubowitz, V; Iannaccone, S; Minetti, C; Pedemonte, M; Seri, M; Cusano, R; Lammens, M; Castagna-Sloane, A; Beggs, A, H; et al.. "Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.." Neuromuscular disorders : NMD. Vol. 9, no. 8. (January 1999.): 564-72.

Sarraf, P; Mueller, E; Smith, W, M; Wright, H, M; Kum, J, B; Aaltonen, L, A; de la Chapelle, A; Spiegelman, B, M; Eng, C. "Loss-of-function mutations in PPAR gamma associated with human colon cancer.." Molecular cell. Vol. 3, no. 6. (January 1999.): 799-804.

Pelin, K; Hilpela, P; Donner, K; Sewry, C; Akkari, P, A; Wilton, S, D; Wattanasirichaigoon, D; Bang, M, L; Centner, T; Hanefeld, F; Odent, S; Fardeau, M; Urtizberea, J, A; Muntoni, F; Dubowitz, V; Beggs, A, H; Laing, N, G; Labeit, S; de la Chapelle, A; Wallgren-Pettersson, C. "Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.." Proceedings of the National Academy of Sciences of the United States of America. Vol. 96, no. 5. (January 1999.): 2305-10.

Kuismanen, S, A; Holmberg, M, T; Salovaara, R; Schweizer, P; Aaltonen, L, A; de La Chapelle, A; Nystrom-Lahti, M; Peltomaki, P. "Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers.." Proceedings of the National Academy of Sciences of the United States of America. Vol. 96, no. 22. (January 1999.): 12661-6.

Kozyraki, R; Fyfe, J; Kristiansen, M; Gerdes, C; Jacobsen, C; Cui, S; Christensen, E, I; Aminoff, M; de la Chapelle, A; Krahe, R; Verroust, P, J; Moestrup, S K. "The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein.." Nature medicine. Vol. 5, no. 6. (January 1999.): 656-61.

Hoglund, P; Holmberg, C; Haila, S; de la Chapelle, A; Kere, J. "[Congenital chloride diarrhea gene error in the anion transporter protein]." Duodecim; laaketieteellinen aikakauskirja. Vol. 115, no. 17. (January 1999.): 1833-41.

Chadwick, R, B; Meek, J, E; Prior, T, W; Peltomaki, P; de La Chapelle, A. "Polymorphisms in a pseudogene highly homologous to PMS2.." Human mutation. Vol. 16, no. 6. (January 2000.): 530-.

Salovaara, R; Loukola, A; Kristo, P; Kaariainen, H; Ahtola, H; Eskelinen, M; Harkonen, N; Julkunen, R; Kangas, E; Ojala, S; Tulikoura, J; Valkamo, E; Jarvinen, H; Mecklin, J, P; Aaltonen, L, A; de la Chapelle, A. "Population-based molecular detection of hereditary nonpolyposis colorectal cancer.." Journal of clinical oncology : official journal of the American Society of Clinical Oncology. Vol. 18, no. 11. (January 2000.): 2193-200.

Elsas, L, J; Ljungqvist, A; Ferguson-Smith, M, A; Simpson, J, L; Genel, M; Carlson, A, S; Ferris, E; de la Chapelle, A; Ehrhardt, A A. "Gender verification of female athletes.." Genetics in medicine : official journal of the American College of Medical Genetics. Vol. 2, no. 4. (January 2000.): 249-54.

Joensuu, T; Hamalainen, R; Lehesjoki, A, E; de la Chapelle, A; Sankila, E M. "A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q.." Genomics. Vol. 63, no. 3. (January 2000.): 409-16.

Yan, H; Papadopoulos, N; Marra, G; Perrera, C; Jiricny, J; Boland, C, R; Lynch, H, T; Chadwick, R, B; de la Chapelle, A; Berg, K; Eshleman, J, R; Yuan, W; Markowitz, S; Laken, S, J; Lengauer, C; Kinzler, K, W; Vogelstein, B. "Conversion of diploidy to haploidy.." Nature. Vol. 403, no. 6771. (January 2000.): 723-4.

Jarvinen, H, J; Aarnio, M; Mustonen, H; Aktan-Collan, K; Aaltonen, L, A; Peltomaki, P; De La Chapelle, A; Mecklin, J P. "Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer.." Gastroenterology. Vol. 118, no. 5. (January 2000.): 829-34.

Desai, D, C; Lockman, J, C; Chadwick, R, B; Gao, ; XPercesepe, A; Evans, D, G; Miyaki, M; Yuen, S, T; Radice, P; Maher, E, R; Wright, F, A; de La Chapelle, A. "Recurrent germline mutation in MSH2 arises frequently de novo.." Journal of medical genetics. Vol. 37, no. 9. (January 2000.): 646-52.

Simpson, J, L; Ljungqvist, A; Ferguson-Smith, M, A; de la Chapelle, A; Elsas, L J 2nd; Ehrhardt, A, A; Genel, M; Ferris, E, A; Carlson, A. "Gender verification in the Olympics.." JAMA : the journal of the American Medical Association. Vol. 284, no. 12. (January 2000.): 1568-9.

Ranta, S; Zhang, Y; Ross, B; Takkunen, E; Hirvasniemi, A; de la Chapelle, A; Gilliam, T, C; Lehesjoki, A E. "Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation.." European journal of human genetics : EJHG. Vol. 8, no. 5. (January 2000.): 381-4.

Kuismanen, S, A; Holmberg, M, T; Salovaara, R; de la Chapelle, A; Peltomaki, P. "Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers.." American journal of pathology. Vol. 156, no. 5. (January 2000.): 1773-9.

Kristiansen, M; Aminoff, M; Jacobsen, C; de La Chapelle, A; Krahe, R; Verroust, P, J; Moestrup, S K. "Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.." Blood. Vol. 96, no. 2. (January 2000.): 405-9.

Aktan-Collan, K; Mecklin, J, P; Jarvinen, H; Nystrom-Lahti, M; Peltomaki, P; Soderling, I; Uutela, A; de la Chapelle, A; Kaariainen, H. "Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction.." International journal of cancer. Journal international du cancer. Vol. 89, no. 1. (January 2000.): 44-50.

Aktan-Collan, K; Mecklin, J, P; de la Chapelle, A; Peltomaki, P; Uutela, A; Kaariainen, H. "Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer.." Journal of medical genetics. Vol. 37, no. 2. (January 2000.): 108-13.

Adebamowo, C, A; Adeyi, O; Pyatt, R; Prior, T, W; Chadwick, R, B; de la Chapelle, A. "Case report on hereditary non-polyposis colon cancer (HNPCC) in Nigeria.." African journal of medicine and medical sciences. Vol. 29, no. 1. (January 2000.): 71-3.

Pellegata, N, S; Dieguez-Lucena, J, L; Joensuu, T; Lau, S; Montgomery, K, T; Krahe, R; Kivela, T; Kucherlapati, R; Forsius, H; de la Chapelle, A. "Mutations in KERA, encoding keratocan, cause cornea plana.." Nature genetics. Vol. 25, no. 1. (January 2000.): 91-5.

Maury, C, P; Liljestrom, M; Boysen, G; Tornroth, T; de la Chapelle, A; Nurmiaho-Lassila, E L. "Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type).." Journal of clinical pathology. Vol. 53, no. 2. (January 2000.): 95-9.

Chadwick, R, B; Jiang, G, L; Bennington, G, A; Yuan, B; Johnson, C, K; Stevens, M, W; Niemann, T, H; Peltomaki, P; Huang, S; de la Chapelle, A. "Candidate tumor suppressor RIZ is frequently involved in colorectal carcinogenesis.." Proceedings of the National Academy of Sciences of the United States of America. Vol. 97, no. 6. (January 2000.): 2662-7.

Nakagawa, H; Nuovo, G, J; Zervos, E, E; Martin, E W Jr; Salovaara, R; Aaltonen, L, A; de la Chapelle, A. "Age-related hypermethylation of the 5' region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development.." Cancer research. Vol. 61, no. 19. (January 2001.): 6991-5.

Nakagawa, H; Chadwick, R, B; Peltomaki, P; Plass, C; Nakamura, Y; de La Chapelle, A. "Loss of imprinting of the insulin-like growth factor II gene occurs by biallelic methylation in a core region of H19-associated CTCF-binding sites in colorectal cancer.." Proceedings of the National Academy of Sciences of the United States of America. Vol. 98, no. 2. (January 2001.): 591-6.

Burghes, A, H; Vaessin, H, E; de La Chapelle, A. "Genetics. The land between Mendelian and multifactorial inheritance.." Science. Vol. 293, no. 5538. (January 2001.): 2213-4.

Mailman, M, D; Hemingway, T; Darsey, R, L; Glasure, C, E; Huang, Y; Chadwick, R, B; Heinz, J, W; Papp, A, C; Snyder, P, J; Sedra, M, S; Schafer, R, W; Abuelo, D, N; Reich, E, W; Theil, K, S; Burghes, A, H; de la Chapelle, A; Prior, T W. "Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.." Human genetics. Vol. 108, no. 2. (January 2001.): 109-15.

Ridanpaa, M; van Eenennaam, H; Pelin, K; Chadwick, R; Johnson, C; Yuan, B; vanVenrooij, W; Pruijn, G; Salmela, R; Rockas, S; Makitie, O; Kaitila, I; de la Chapelle, A. "Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.." Cell. Vol. 104, no. 2. (January 2001.): 195-203.

Nykjaer, A; Fyfe, J, C; Kozyraki, R; Leheste, J, R; Jacobsen, C; Nielsen, M, S; Verroust, P, J; Aminoff, M; de la Chapelle, A; Moestrup, S, K; Ray, R; Gliemann, J; Willnow, T, E; Christensen, E I. "Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3).." Proceedings of the National Academy of Sciences of the United States of America. Vol. 98, no. 24. (January 2001.): 13895-900.

Tanner, S, M; Austin, J, L; Leone, G; Rush, L, J; Plass, C; Heinonen, K; Mrozek, K; Sill, H; Knuutila, S; Kolitz, J, E; Archer, K, J; Caligiuri, M, A; Bloomfield, C, D; de La Chapelle, A. "BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia.." Proceedings of the National Academy of Sciences of the United States of America. Vol. 98, no. 24. (January 2001.): 13901-6.

Eng, C; Hampel, H; de la Chapelle , A. "Genetic testing for cancer predisposition.." Annual review of medicine. Vol. 52, (January 2001.): 371-400.

Virtaneva, K; Wright, F, A; Tanner, S, M; Yuan, B; Lemon, W, J; Caligiuri, M, A; Bloomfield, C, D; de La Chapelle , A; Krahe, R. "Expression profiling reveals fundamental biological differences in acute myeloid leukemia with isolated trisomy 8 and normal cytogenetics.." Proceedings of the National Academy of Sciences of the United States of America. Vol. 98, no. 3. (January 2001.): 1124-9.

Huang, Y; Prasad, M; Lemon, W, J; Hampel, H; Wright, F, A; Kornacker, K; LiVolsi, V; Frankel, W; Kloos, R, T; Eng, C; Pellegata, N, S; de la Chapelle, A. "Gene expression in papillary thyroid carcinoma reveals highly consistent profiles.." Proceedings of the National Academy of Sciences of the United States of America. Vol. 98, no. 26. (January 2001.): 15044-9.

Steele-Perkins, G; Fang, W; Yang, X, H; Van Gele, M; Carling, T; Gu, J; Buyse, I, M; Fletcher, J, A; Liu, J; Bronson, R; Chadwick, R, B; de la Chapelle, A; Zhang, ; XSpeleman, F; Huang, S. "Tumor formation and inactivation of RIZ1, an Rb-binding member of a nuclear protein-methyltransferase superfamily.." Genes & development. Vol. 15, no. 17. (January 2001.): 2250-62.

Joensuu, T; Hamalainen, R; Yuan, B; Johnson, C; Tegelberg, S; Gasparini, P; Zelante, L; Pirvola, U; Pakarinen, L; Lehesjoki, A, E; de la Chapelle, A; Sankila, E M. "Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.." American journal of human genetics. Vol. 69, no. 4. (January 2001.): 673-84.

Chadwick, R, B; Pyatt, R, E; Niemann, T, H; Richards, S, K; Johnson, C, K; Stevens, M, W; Meek, J, E; Hampel, H; Prior, T, W; de la Chapelle, A. "Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma.." Journal of medical genetics. Vol. 38, no. 7. (January 2001.): 461-6.

Nakagawa, Hidewaki; Yan, Hai; Lockman, Janet; Hampel, Heather; Kinzler, Kenneth, W; Vogelstein, Bert; De La Chapelle, Albert. "Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements.." Cancer research. Vol. 62, no. 16. (January 2002.): 4579-82.

Yoon, Heejei; Liyanarachchi, Sandya; Wright, Fred, A; Davuluri, Ramana; Lockman, Janet, C; de la Chapelle, Albert; Pellegata, Natalia S. "Gene expression profiling of isogenic cells with different TP53 gene dosage reveals numerous genes that are affected by TP53 dosage and identifies CSPG2 as a direct target of p53.." Proceedings of the National Academy of Sciences of the United States of America. Vol. 99, no. 24. (January 2002.): 15632-7.

Wutz, Krisztina; Sauer, Christian; Zrenner, Eberhart; Lorenz, Birgit; Alitalo, Tiina; Broghammer, Martina; Hergersberg, Martin; de la Chapelle, Albert; Weber, Bernhard H, F; Wissinger, Bernd; Meindl, Alfons; Pusch, Carsten M. "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.." European journal of human genetics : EJHG. Vol. 10, no. 8. (January 2002.): 449-56.

Foulkes, W, D; Thiffault, I; Gruber, S, B; Horwitz, M; Hamel, N; Lee, C; Shia, J; Markowitz, A; Figer, A; Friedman, E; Farber, D; Greenwood, C M, T; Bonner, J, D; Nafa, K; Walsh, T; Marcus, V; Tomsho, L; Gebert, J; Macrae, F, A; Gaff, C, L; et al.. "The founder mutation MSH2*1906GC is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. -->." American journal of human genetics. Vol. 71, no. 6. (January 2002.): 1395-412.

de La Chapelle, Albert. "Microsatellite instability phenotype of tumors: genotyping or immunohistochemistry? The jury is still out.." Journal of clinical oncology : official journal of the American Society of Clinical Oncology. Vol. 20, no. 4. (January 2002.): 897-9.

Zhou, Xiao-Ping; Loukola, Anu; Salovaara, Reijo; Nystrom-Lahti, Minna; Peltomaki, Paivi; de la Chapelle, Albert; Aaltonen, Lauri, A; Eng, Charis. "PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers.." American journal of pathology. Vol. 161, no. 2. (January 2002.): 439-47.

Nakagawa, Hidewaki; Hampel, Heather; de la Chapelle, Albert. "Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques.." Human mutation. Vol. 22, no. 3. (January 2003.): 258-.

Baldus, Claudia, D; Tanner, Stephan, M; Ruppert, Amy, S; Whitman, Susan, P; Archer, Kellie, J; Marcucci, Guido; Caligiuri, Michael, A; Carroll, Andrew, J; Vardiman, James, W; Powell, Bayard, L; Allen, Steven, L; Moore, Joseph, O; Larson, Richard, A; Kolitz, Jonathan, E; de la Chapelle, Albert; Bloomfield, Clara D. "BAALC expression predicts clinical outcome of de novo acute myeloid leukemia patients with normal cytogenetics: a Cancer and Leukemia Group B Study.." Blood. Vol. 102, no. 5. (January 2003.): 1613-8.

Baldus, Claudia, D; Tanner, Stephan, M; Kusewitt, Donna, F; Liyanarachchi, Sandya; Choi, Changsun; Caligiuri, Michael, A; Bloomfield, Clara, D; de la Chapelle, Albert. "BAALC, a novel marker of human hematopoietic progenitor cells.." Experimental hematology. Vol. 31, no. 11. (January 2003.): 1051-6.

Tanner, Stephan, M; Aminoff, Maria; Wright, Fred, A; Liyanarachchi, Sandya; Kuronen, Mervi; Saarinen, Anne; Massika, Orit; Mandel, Hanna; Broch, Harald; de la Chapelle, Albert. "Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.." Nature genetics. Vol. 33, no. 3. (January 2003.): 426-9.

Lynch, Henry, T; de la Chapelle, Albert. "Hereditary colorectal cancer.." The New England journal of medicine. Vol. 348, no. 10. (January 2003.): 919-32.

de la Chapelle, Albert. "Microsatellite instability.." The New England journal of medicine. Vol. 349, no. 3. (January 2003.): 209-10.

de la Chapelle, Albert. "2002 William Allan Award Address. Inherited human diseases: victories, challenges, disappointments.." American journal of human genetics. Vol. 72, no. 2. (January 2003.): 236-40.

Pyatt, R, E; Nakagawa, H; Hampel, H; Sedra, M; Fuchik, M, B; Comeras, I; de la Chapelle, A; Prior, T W. "Identification of a deletion in the mismatch repair gene, MSH2, using mouse-human cell hybrids monosomal for chromosome 2.." Clinical genetics. Vol. 63, no. 3. (January 2003.): 215-8.

Kolehmainen, Juha; Black, Graeme C, M; Saarinen, Anne; Chandler, Kate; Clayton-Smith, Jill; Traskelin, Ann-Liz; Perveen, Rahat; Kivitie-Kallio, Satu; Norio, Reijo; Warburg, Mette; Fryns, Jean-Pierre; de la Chapelle, Albert; Lehesjoki, Anna-Elina. "Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.." American journal of human genetics. Vol. 72, no. 6. (January 2003.): 1359-69.

Huang, Ying; de la Chapelle, Albert; Pellegata, Natalia S. "Hypermethylation, but not LOH, is associated with the low expression of MT1G and CRABP1 in papillary thyroid carcinoma.." International journal of cancer. Journal international du cancer. Vol. 104, no. 6. (January 2003.): 735-44.

Wagner, Anja; Barrows, Alicia; Wijnen, Juul Th; van der Klift, Heleen; Franken, Patrick, F; Verkuijlen, Paul; Nakagawa, Hidewaki; Geugien, Marjan; Jaghmohan-Changur, Shantie; Breukel, Cor; Meijers-Heijboer, Hanne; Morreau, Hans; van Puijenbroek, Marjo; Burn, John; Coronel, Stephany; Kinarski, Yulia; Okimoto, Ross; Watson, Patrice; Lynch, Jane, F; de la Chapelle, Albert; et al.. "Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.." American journal of human genetics. Vol. 72, no. 5. (January 2003.): 1088-100.

Umar, Asad; Boland, C Richard; Terdiman, Jonathan, P; Syngal, Sapna; de la Chapelle, Albert; Ruschoff, Josef; Fishel, Richard; Lindor, Noralane, M; Burgart, Lawrence, J; Hamelin, Richard; Hamilton, Stanley, R; Hiatt, Robert, A; Jass, Jeremy; Lindblom, Annika; Lynch, Henry, T; Peltomaki, Paivi; Ramsey, Scott, D; Rodriguez-Bigas, Miguel, A; Vasen, Hans F, A; Hawk, Ernest, T; et al.. "Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.." Journal of the National Cancer Institute. Vol. 96, no. 4. (January 2004.): 261-8.

Lynch, Henry, T; Coronel, Stephanie, M; Okimoto, Ross; Hampel, Heather; Sweet, Kevin; Lynch, Jane, F; Barrows, Ali; Wijnen, Juul; van der Klift, Heleen; Franken, Patrick; Wagner, Anja; Fodde, Riccardo; de la Chapelle, Albert. "A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States.." JAMA : the journal of the American Medical Association. Vol. 291, no. 6. (January 2004.): 718-24.

Nakagawa, Hidewaki; Lockman, Janet, C; Frankel, Wendy, L; Hampel, Heather; Steenblock, Kelle; Burgart, Lawrence, J; Thibodeau, Stephen, N; de la Chapelle, Albert. "Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.." Cancer research. Vol. 64, no. 14. (January 2004.): 4721-7.

Nakagawa, Hidewaki; Liyanarachchi, Sandya; Davuluri, Ramana, V; Auer, Herbert; Martin, Edward W Jr; de la Chapelle, Albert; Frankel, Wendy L. "Role of cancer-associated stromal fibroblasts in metastatic colon cancer to the liver and their expression profiles.." Oncogene. Vol. 23, no. 44. (January 2004.): 7366-77.

Aldred, Micheala, A; Huang, Ying; Liyanarachchi, Sandya; Pellegata, Natalia, S; Gimm, Oliver; Jhiang, Sissy; Davuluri, Ramana, V; de la Chapelle, Albert; Eng, Charis. "Papillary and follicular thyroid carcinomas show distinctly different microarray expression profiles and can be distinguished by a minimum of five genes.." Journal of clinical oncology : official journal of the American Society of Clinical Oncology. Vol. 22, no. 17. (January 2004.): 3531-9.

de la Chapelle, Albert. "Genetic predisposition to colorectal cancer.." Nature reviews Cancer. Vol. 4, no. 10. (January 2004.): 769-80.

de la Chapelle A. Nat Rev Cancer. Vol. 4:769-780, 2004, (January 2004.): 769-780.

Baldus CD, Liyanarachchi S, Mrozek K, Auer H, Tanner SM, Guimond M, Ruppert AS, Mohamed N, Davuluri RV, Caligiuri MA, Bloomfield CD, de la Chapelle A. "Acute myeloid leukemia with complex karyotypes and abnormal chromosome 21:amplification discloses overexpression of APP, ETS2 and ERG genes.." PNAS. Vol. 101, (January 2004.): 3915-3920.

Kariola, R; Hampel, H; Frankel, W, L; Raevaara, T, E; de la Chapelle, A; Nystrom-Lahti, M. "MSH6 missense mutations are often associated with no or low cancer susceptibility.." British journal of cancer. Vol. 91, no. 7. (January 2004.): 1287-92.

Fyfe, John, C; Madsen, Mette; Hojrup, Peter; Christensen, Erik, I; Tanner, Stephan, M; de la Chapelle, Albert; He, Qianchuan; Moestrup, Soren K. "The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.." Blood. Vol. 103, no. 5. (January 2004.): 1573-9.

Tanner, Stephan, M; Li, Zhongyuan; Bisson, Ryan; Acar, Ceren; Oner, Cihan; Oner, Reyhan; Cetin, Mualla; Abdelaal, Mohamed, A; Ismail, Essam, A; Lissens, Willy; Krahe, Ralf; Broch, Harald; Grasbeck, Ralph; de la Chapelle, Albert. "Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.." Human mutation. Vol. 23, no. 4. (January 2004.): 327-33.

Prasad, Manju, L; Pellegata, Natalia, S; Kloos, Richard, T; Barbacioru, Catalin; Huang, Ying; de la Chapelle, Albert. "CITED1 protein expression suggests Papillary Thyroid Carcinoma in high throughput tissue microarray-based study.." Thyroid : official journal of the American Thyroid Association. Vol. 14, no. 3. (January 2004.): 169-75.

Prasad, M, L; Huang, Y; Pellegata, N, S; de la Chapelle, A; Kloos, R T. "Hashimoto's thyroiditis with papillary thyroid carcinoma (PTC)-like nuclear alterations express molecular markers of PTC.." Histopathology. Vol. 45, no. 1. (January 2004.): 39-46.

Raevaara, Tiina, E; Korhonen, Mari, K; Lohi, Hannes; Hampel, Heather; Lynch, Elly; Lonnqvist, Karin, E; Holinski-Feder, Elke; Sutter, Christian; McKinnon, Wendy; Duraisamy, Sekhar; Gerdes, Anne-Marie; Peltomaki, Paivi; Kohonen-Ccorish, Maija; Mangold, Elisabeth; Macrae, Finlay; Greenblatt, Marc; de la Chapelle, Albert; Nystrom, Minna. "Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.." Gastroenterology. Vol. 129, no. 2. (January 2005.): 537-49.

Pasche, Boris; Knobloch, Thomas, J; Bian, Yansong; Liu, Junjian; Phukan, Sharbani; Rosman, Diana; Kaklamani, Virginia; Baddi, Lisa; Siddiqui, Farida, S; Frankel, Wendy; Prior, Thomas, W; Schuller, David, E; Agrawal, Amit; Lang, Jas; Dolan, M Eileen; Vokes, Everett, E; Lane, William, S; Huang, Chiang-Ching; Caldes, Trinidad; Di Cristofano, Antonio; et al.. "Somatic acquisition and signaling of TGFBR1*6A in cancer.." JAMA : the journal of the American Medical Association. Vol. 294, no. 13. (January 2005.): 1634-46.

Satoskar, Anjali, A; Tanner, Stephan, M; Weinstein, Michael; Qualman, Stephen, J; de la Chapelle, Albert. "Baalc, a marker of mesoderm and muscle.." Gene Expression Patterns : GEP. Vol. 5, no. 4. (January 2005.): 463-73.

Marcucci, Guido; Baldus, Claudia, D; Ruppert, Amy, S; Radmacher, Michael, D; Mrozek, Krzysztof; Whitman, Susan, P; Kolitz, Jonathan, E; Edwards, Colin, G; Vardiman, James, W; Powell, Bayard, L; Baer, Maria, R; Moore, Joseph, O; Perrotti, Danilo; Caligiuri, Michael, A; Carroll, Andrew, J; Larson, Richard, A; de la Chapelle, Albert; Bloomfield, Clara D. "Overexpression of the ETS-related gene, ERG, predicts a worse outcome in acute myeloid leukemia with normal karyotype: a Cancer and Leukemia Group B study.." Journal of clinical oncology : official journal of the American Society of Clinical Oncology. Vol. 23, no. 36. (January 2005.): 9234-42.

He, Qianchuan; Madsen, Mette; Kilkenney, Adam; Gregory, Brittany; Christensen, Erik, I; Vorum, Henrik; Hojrup, Peter; Schaffer, Alejandro, A; Kirkness, Ewen, F; Tanner, Stephan, M; de la Chapelle, Albert; Giger, Urs; Moestrup, Soren, K; Fyfe, John C. "Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo.." Blood. Vol. 106, no. 4. (January 2005.): 1447-53.

He, Huiling; Olesnanik, Katie; Nagy, Rebecca; Liyanarachchi, Sandya; Prasad, Manju, L; Stratakis, Constantine, A; Kloos, Richard, T; de la Chapelle, Albert. "Allelic variation in gene expression in thyroid tissue.." Thyroid : official journal of the American Thyroid Association. Vol. 15, no. 7. (January 2005.): 660-7.

He, Huiling; Jazdzewski, Krystian; Li, Wei; Liyanarachchi, Sandya; Nagy, Rebecca; Volinia, Stefano; Calin, George, A; Liu, Chang-Gong; Franssila, Kaarle; Suster, Saul; Kloos, Richard, T; Croce, Carlo, M; de la Chapelle, Albert. "The role of microRNA genes in papillary thyroid carcinoma.." Proceedings of the National Academy of Sciences of the United States of America. Vol. 102, no. 52. (January 2005.): 19075-80.

Hampel, Heather; Stephens, Julie, A; Pukkala, Eero; Sankila, Risto; Aaltonen, Lauri, A; Mecklin, Jukka-Pekka; de la Chapelle, Albert. "Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.." Gastroenterology. Vol. 129, no. 2. (January 2005.): 415-21.

Hampel, Heather; Frankel, Wendy, L; Martin, Edward; Arnold, Mark; Khanduja, Karamjit; Kuebler, Philip; Nakagawa, Hidewaki; Sotamaa, Kaisa; Prior, Thomas, W; Westman, Judith; Panescu, Jenny; Fix, Dan; Lockman, Janet; Comeras, Ilene; de la Chapelle, Albert. "Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).." The New England Journal of Medicine. Vol. 352, no. 18. (January 2005.): 1851-60.

Tanner, Stephan, M; Li, Zhongyuan; Perko, James, D; Oner, Cihan; Cetin, Mualla; Altay, Cigdem; Yurtsever, Zekiye; David, Karen, L; Faivre, Laurence; Ismail, Essam, A; Grasbeck, Ralph; de la Chapelle, Albert. "Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.." Proceedings of the National Academy of Sciences of the United States of America. Vol. 102, no. 11. (January 2005.): 4130-3.

Prasad, Manju, L; Pellegata, Natalia, S; Huang, Ying; Nagaraja, Haikady, N; de la Chapelle, Albert; Kloos, Richard T. "Galectin-3, fibronectin-1, CITED-1, HBME1 and cytokeratin-19 immunohistochemistry is useful for the differential diagnosis of thyroid tumors.." Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. Vol. 18, no. 1. (January 2005.): 48-57.

de la Chapelle, Albert. "The incidence of Lynch syndrome.." Familial cancer. Vol. 4, no. 3. (January 2005.): 233-7.

de la Chapelle A. Familial Cancer. Vol. 4, (January 2005.): 233-237.

Sotamaa, Kaisa; Liyanarachchi, Sandya; Mecklin, Jukka-Pekka; Jarvinen, Heikki; Aaltonen, Lauri, A; Peltomaki, Paivi; de la Chapelle, Albert. "p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome.." Clinical cancer research : an official journal of the American Association for Cancer Research. Vol. 11, no. 19 Pt 1. (January 2005.): 6840-4.

Bian, Yansong; Caldes, Trinidad; Wijnen, Juul; Franken, Patrick; Vasen, Hans; Kaklamani, Virginia; Nafa, Khedoudja; Peterlongo, Paolo; Ellis, Nathan; Baron, John, A; Burn, John; Moeslein, Gabriela; Morrison, Patrick, J; Chen, Yu; Ahsan, Habibul; Watson, Patrice; Lynch, Henry, T; de la Chapelle, Albert; Fodde, Riccardo; Pasche, Boris. "TGFBR1*6A may contribute to hereditary colorectal cancer.." Journal of clinical oncology : official journal of the American Society of Clinical Oncology. Vol. 23, no. 13. (January 2005.): 3074-8.

Al-Alami, Jamil, R; Tanner, Stephan, M; Tayeh, Marwan, K; de la Chapelle, Albert; El-Shanti, Hatem. "Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.." Saudi Medical Journal. Vol. 26, no. 7. (January 2005.): 1061-4.

Hampel, Heather; Frankel, Wendy; Panescu, Jenny; Lockman, Janet; Sotamaa, Kaisa; Fix, Daniel; Comeras, Ilene; La Jeunesse, Jennifer; Nakagawa, Hidewaki; Westman, Judith, A; Prior, Thomas, W; Clendenning, Mark; Penzone, Pamela; Lombardi, Janet; Dunn, Patti; Cohn, David, E; Copeland, Larry; Eaton, Lynne; Fowler, Jeffrey; Lewandowski, George; et al.. "Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.." Cancer research. Vol. 15, (January 2006.): 7810-7.

Clendenning, Mark; Hampel, Heather; LaJeunesse, Jennifer; Lindblom, Annika; Lockman, Jan; Nilbert, Mef; Senter, Leigha; Sotamaa, Kaisa; de la Chapelle, Albert. "Long-range PCR facilitates the identification of PMS2-specific mutations.." Human Mutation. Vol. 27, no. 5. (January 2006.): 490-5.

Ollila S, Sarantaus L, Kariola R, Chan P, Hampel H, Holinski-Feder E, Macrae F, Kohonen-Corish M, Gerdes A-M, Peltomäki P, Mangold E, de la Chapelle A, Greenblatt M, Nystrom M. "Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.." Gastroenterology. Vol. 131, (January 2006.): 1408-1417.

Zervos EE, Tanner SM, Osborne DA, Bloomston M, Rosemurgy AS, Ellison EC, Melvin WS, de la Chapelle A. "Differential gene expression in patients genetically predisposed to pancreatic cancer.." J Surg Res. Vol. 135, (January 2006.): 317-322.

Nuovo GJ, Nakagawa H, Sotamaa K, de la Chapelle A. "Hypermethylation of the MLH1 promoter with concomitant absence of transcript and protein occurs in small patches of crypt cells in unaffected mucosa from sporadic colorectal carcinoma.." Diag Mol Path. Vol. 15, (January 2006.): 17-23.

138. Lynch HT, Boland RC, Gong G, Shaw TG, Lynch PM, Fodde R, Lynch JF, de la Chapelle A. "138. Lynch HT, Boland RC, Gong G, Shaw TG, Lynch PM, Fodde R, Lynch JF, de la Chapelle A: Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance, and management implications.." Eur J Hum Genet. Vol. 14:, (January 2006.): 390-402.

Yearsley M, Hampel H, Lehman A, Nakagawa H, de la Chapelle A, Frankel WL. "Histologic features distinguish microsatellite-high from microsatellite-low and microsatellite-stable colorectal carcinomas, but do not differentiate germline mutations from methylation of the MLH1 promoter.." Human Pathol. Vol. 37, (January 2006.): 831-838.

Lynch, Henry, T; de la Chapelle, Albert; Hampel, Heather; Wagner, Anja; Fodde, Riccardo; Lynch, Jane, F; Okimoto, Ross; Clark, Mary Beth; Coronel, Stephanie; Trowonou, Abdon; Fu, Yun-Xin; Haynatzki, Gleb, R; Gong, Gordon. "American founder mutation for Lynch syndrome. Prevalence estimates and implications.." Cancer. Vol. 106, no. 2. (January 2006.): 448-52.

Broides A, Yerushalmi B, Levy R, Hadad N, Kaplun N, Tanner SM, de la Chapelle A, Levy J. "Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function.." J Ped Hematology Oncol. Vol. 28, (January 2006.): 715-719.

Plass C, Byrd JC, Raval A, Tanner SM, de la Chapelle A. "Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genes.." Br J Haematol. Vol. 139, (January 2007.): 744-752.

Raval, Aparna; Tanner, Stephan, M; Byrd, John, C; Angerman, Elizabeth, B; Perko, James, D; Chen, Shih-Shih; Hackanson, Bjorn; Grever, Michael, R; Lucas, David, M; Matkovic, Jennifer, J; Lin, Thomas, S; Kipps, Thomas, J; Murray, Fiona; Weisenburger, Dennis; Sanger, Warren; Lynch, Jane; Watson, Patrice; Jansen, Mary; Yoshinaga, Yuko; Rosenquist, Richard; et al.. "Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.." Cell. Vol. 129, (January 2007.): 879-890.

Yoon H, He H, Nagy R, Davuluri R, Suster S, Schoenberg D, Pellegata N, de la Chapelle A. "Identification of a novel noncoding RNA gene, NAMA, that is correlated with BRAF mutation in papillary thyroid carcinoma, and associated with growth arrest.." Int J Cancer. Vol. 121, (January 2007.): 767-775.

Jalkanen, Reetta; Bech-Hansen, N Torben; Tobias, Rose; Sankila, Eeva-Marja; Mantyjarvi, Maija; Forsius, Henrik; de la Chapelle, Albert; Alitalo, Tiina. "A novel CACNA1F gene mutation causes Aland Island eye disease.." Investigative ophthalmology & visual science. Vol. 48, no. 6. (January 2007.): -.

Hampel, Heather; Panescu, Jenny; Lockman, Janet; Sotamaa, Kaisa; Fix, Daniel; Comeras, Ilene; LaJeunesse, Jennifer; Nakagawa, Hidewaki; Westman, Judith, A; Prior, Thomas, W; Clendenning, Mark; de la Chapelle, Albert; Frankel, Wendy; Penzone, Pamela; Cohn, David, E; Copeland, Larry; Eaton, Lynne; Fowler, Jeffrey; Lombardi, Janet; Dunn, Patti; et al.. "Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients.." Cancer research. Vol. 67, no. 19. (January 2007.): -.

Plass C, Byrd JC, Raval A, Tanner SM, de la Chapelle A. "Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genes." Br J Haematol. Vol. 139, (January 2007.): 744-.

Liskova P, Hysi P, Williams D, Ainsworth J, Shah S, de la Chapelle A, Tuft S, Bhattacharya SS. "Study of p.N247S KERA mutation in a British family with cornea plana." Mol Vision. Vol. 13, (January 2007.): 1339-1347.

Chen H, Taylor NP, Sotamaa KM, Mutch DG, Powell MA, Schmidt AP, Feng S, Hampel HL, de la Chapelle A, Goodfellow PJ. "Evidence for heritable predisposition to epigenetic silencing of MLH1.." Intl J Cancer. Vol. 120, (January 2007.): 1684-1688.

Quintero-Rivera, Fabiola; Leach, Natalia, T; de la Chapelle, Albert; Gusella, James, F; Morton, Cynthia, C; Harris, David J. "Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?." American journal of medical genetics. Part A. Vol. 143A, no. 15. (January 2007.): 1796-1798.

Clendenning, M; Senter, L; Hampel, H; Robinson, K Lagerstedt; Sun, S; Buchanan, D; Walsh, M, D; Nilbert, M; Green, J; Potter, J; Lindblom, A; de la Chapelle, A. "A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.." Journal of medical genetics. Vol. 45, no. 6. (January 2008.): -.

Hampel H; Frankel WL; Martin E; Arnold M; Khanduja K; Kuebler P; Clendenning M; Sotamaa K; Prior T; Westman JA; Panescu J; Fix D; Lockman J; LaJeunesse J; Comeras I; de la Chapelle A. "Feasibility of screening for Lynch syndrome among patients with colorectal cancer.." Journal Of Clinical Oncology: Official Journal Of The American Society Of Clinical Oncology. Vol. 26, no. 35. (December 2008.): 5783-.

van Gijn, Marielle E.; Soler, Stephan; de la Chapelle, Claire; Mulder, Marcel; Ritorre, Cecile; Kriek, Marjolein; Philibert, Laurent; van der Wielen, Michiel; Frenkel, Joost; Grandemange, Sylvie; Bakker, Egbert; van Amstel, Johannes K. Ploos; Touitou, Isabelle. "Search for copy number alterations in the Mefv gene using multiplex ligation probe amplification, experience from three diagnostic centres." European Journal of Human Genetics. Vol. 16, no. 11. (January 2008.): 1404-1406.

Valle, Laura; Serena-Acedo, Tarsicio; Liyanarachchi, Sandya; Hampel, Heather; Comeras, Ilene; Li, Zhongyuan; Zeng, Qinghua; Zhang, Hong-Tao; Pennison, Michael, J; Sadim, Maureen; Pasche, Boris; Tanner, Stephan, M; de la Chapelle, Albert. "Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer.." Science. Vol. 321, no. 5894. (January 2008.): 1361-1365.

Bonafe, L.; Hastbacka, J.; de la Chapelle, A.; Campos-Xavier, A. B.; Chiesa, C.; Forlino, A.; Superti-Furga, A.; Rossi, A.. "A novel mutation in the sulfate transporter gene Slc26a2 (dtdst) specific to the Finnish population causes de la Chapelle dysplasia." Journal of Medical Genetics. Vol. 45, no. 12. (January 2008.): 827-831.

Senter, Leigha; Clendenning, Mark; Sotamaa, Kaisa; Hampel, Heather; Green, Jane; Potter, John, D; Lindblom, Annika; Lagerstedt, Kristina; Thibodeau, Stephen, N; Lindor, Noralane, M; Young, Joanne; Winship, Ingrid; Dowty, James, G; White, Darren, M; Hopper, John, L; Baglietto, Laura; Jenkins, Mark, A; de la Chapelle, Albert. "The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.." Gastroenterology. Vol. 135, no. 2. (January 2008.): -.

Jazdzewski, Krystian; Murray, Elizabeth, L; Franssila, Kaarle; Jarzab, Barbara; Schoenberg, Daniel, R; de la Chapelle, Albert. "Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma.." Proceedings of the National Academy of Sciences of the United States of America. Vol. 105, no. 20. (January 2008.): -.

Clendenning M, Baze MD, Sun S, Walsh K, Liyanarachchi S, Fix D, Schunemann V, Comeras I, Deacon M, Lynch JF, Gong G, Thomas BC, Thibodeau SN, Lynch HT, Hampel H, de la Chapelle A. "Origins and prevalence of the American founder mutation of MSH2." Cancer Research. Vol. 68, (January 2008.): 2145-2153.

Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Clendenning M, Sotamaa K, Prior T, Westman J, Panescu J, Fix D, Lockman J, LaJeunesse J, Comeras I, de la Chapelle A. "Feasibility of screening for Lynch syndrome among colorectal cancer patients." Journal of Clinical Oncology. (January 2008.): -.

Langer, Christian; Radmacher, Michael, D; Ruppert, Amy, S; Whitman, Susan, P; Paschka, Peter; Mrozek, Krzysztof; Baldus, Claudia, D; Vukosavljevic, Tamara; Liu, Chang-Gong; Ross, Mary, E; Powell, Bayard, L; de la Chapelle, Albert; Kolitz, Jonathan, E; Larson, Richard, A; Marcucci, Guido; Bloomfield, Clara, D; Bloomfield, Clara D. "High BAALC expression associates with other molecular prognostic markers, poor outcome, and a distinct gene-expression signature in cytogenetically normal patients younger than 60 years with acute myeloid leukemia: a Cancer and Leukemia Group B (CALGB)." Blood. Vol. 111, no. 11. (January 2008.): -.

Tanner, Stephan Markus; Anonymous; de la Chapelle, Albert. "Baalc expression as a diagnostic marker for acute leukemia." Official Gazette of the United States Patent and Trademark Office Patents. (January 2008.): -.

South, Christopher, D; Hampel, Heather; Comeras, Ilene; Westman, Judith, A; Frankel, Wendy, L; de la Chapelle, Albert. "The frequency of Muir-Torre syndrome among Lynch syndrome families.." Journal of the National Cancer Institute. Vol. 100, no. 4. (January 2008.): 277-281.

Noel, Gregory; Bruniquel, Denis; DeGuibert, Sophie; Birebent, Brigitte; Grosset, Jean-Marc; Bernard, Marc; Dauriac, Charlie; Lamy-De-la-Chapelle, Thierry; Semana, Gilbert; Brinster, Cartne. "Regulatory Cd4(+)cd25(hi) T cells conserve their function and phenotype after granulocyte colony-stimulating factor treatment in human hematopoietic stem cell transplantation." Human Immunology. Vol. 69, no. 6. (January 2008.): 329-337.

Lynch, Henry, T; Drescher, Kristen, M; de la Chapelle, Albert. "Immunology and the Lynch syndrome.." Gastroenterology. Vol. 134, no. 4. (January 2008.): -.

Lynch HT, Drescher KM, de la Chapelle A. "Immunology and the Lynch syndrome." Gastroenterology. Vol. 134, (January 2008.): 1246-1249.

Luder AS, Tanner SM, de la Chapelle A, Walter JH. "Amnionless (AMN) mutations in Imerslund-Grasbeck syndrome may be associated with disturbed vitamin B(12) transport into th eCNS." Journal of Inherited Metabolic Disease. no. E-published. (January 2008.): -.

Bonafé L; Hästbacka J; de la Chapelle A; Campos-Xavier AB; Chiesa C; Forlino A; Superti-Furga A; Rossi A. "A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.." Journal Of Medical Genetics. Vol. 45, no. 12. (December 2008.): 827-.

He H; Nagy R; Liyanarachchi S; Jiao H; Li W; Suster S; Kere J; de la Chapelle A. "A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24.." Cancer Research. Vol. 69, no. 2. (January 2009.): 625-.

Gudmundsson J, Sulem P, Gudbjartsson DF, Jonasson JG, Sigurdsson A, Bergthorsson JT, He H, Blondal T, Geller F, Jakobsdottir M, Magnusdottir DN, Matthiasdottir S, Stacey SN, Skarphedinsson OB, Helgadottir H, Li W, Nagy R, Aguillo E, Faure E, et al. "Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations." Nature Genetics. Vol. e-published ahead of print, (January 2009.): -.

Jazdzewski K; Liyanarachchi S; Swierniak M; Pachucki J; Ringel MD; Jarzab B; de la Chapelle A. "Polymorphic mature microRNAs from passenger strand of pre-miR-146a contribute to thyroid cancer.." Proceedings Of The National Academy Of Sciences Of The United States Of America. Vol. 106, no. 5. (February 2009.): 1502-.

Zighelboim I, Powell MA, Babb SA, Whelan AJ, Schmidt AP, Clendenning M, Senter L, Thibodeau SN, de la Chapelle A, Goodfellow PJ. "Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome." Familial Cancer. (January 2009.): -.

Zeng, Qinghua; Phukan, Sharbani; Xu, Yanfei; Sadim, Maureen; Liosman, Diana S.; Pennison, Michael; Liao, Jie; Yang, Guang-Yu; Huang, Chiang-Ching; Valle, Laura; Di Cristofano, Antonio; de la Chapelle, Albert; Pasche, Boris. "Tgfbr1 Haploinsufficiency Is a Potent Modifier of Colorectal Cancer Development." Cancer Research. Vol. 69, no. 2. (January 2009.): 678-686.

Zeng Q; Phukan S; Xu Y; Sadim M; Rosman DS; Pennison M; Liao J; Yang GY; Huang CC; Valle L; Di Cristofano A; de la Chapelle A; Pasche B. "Tgfbr1 haploinsufficiency is a potent modifier of colorectal cancer development.." Cancer Research. Vol. 69, no. 2. (January 2009.): 678-.

He, Huiling; Nagy, Rebecca; Liyanarachchi, Sandya; Jiao, Hong; Li, Wei; Suster, Saul; Kere, Juha; de la Chapelle, Albert. "A Susceptibility Locus for Papillary Thyroid Carcinoma on Chromosome 8q24." Cancer Research. Vol. 69, no. 2. (January 2009.): 625-631.

de la Chapelle, Albert; Palomaki, Glenn; Hampel, Heather. "Identifying Lynch syndrome." International Journal of Cancer. Vol. 125, no. 6. (January 2009.): 1492-1493.

de la Chapelle, A.. "Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci." Oncogene. Vol. 28, no. 38. (January 2009.): 3345-3348.

de la Chapelle A, Palomaki G, Hampel H. "Identifying Lynch syndrome." International Journal of Cancer. Vol. 125, (January 2009.): 1492-1493.

Jazdzewski, Krystian; de la Chapelle, Albert. "Genomic sequence matters A Snp in microrna-146a can turn anti-apoptotic." Cell Cycle. Vol. 8, no. 11. (January 2009.): 1642-1643.

Gudmundsson, Julius; Sulem, Patrick; Jonasson, Jon G.; Gudbjartsson, Daniel; He, Huiling; Geller, Frank; Stacey, Simon N.; Li, Wei; Nagy, Rebecca; Aguillo, Esperanza; Faure, Eduardo; Prats, Enrique; Saez, Berta; Godino, Javier; Kristvinsson, Hoskuldur; Saenz-Cusi, Alberto; Gulcher, Jeffrey R.; Jonsson, Thorvaldur; Rafnar, Thorunn; Hjartarsson, Hannes; et al.. "Common sequence variants confer susceptibility to thyroid cancer. Results from a genome-wide association study.." Proceedings of the American Association for Cancer Research Annual Meeting. Vol. 50, (January 2009.): 460-.

Guda, Kishore; Natale, Leanna; Lutterbaugh, James; Wiesner, Georgia L.; Lewis, Susan; Tanner, Stephan M.; Tomsic, Jerneja; Valle, Laura; de la Chapelle, Albert; Elston, Robert C.; Willis, Joseph; Markowitz, Sanford D.. "Infrequent Detection of Germline Allele-specific Expression of Tgfbr1 in Lymphoblasts and Tissues of Colon Cancer Patients." Cancer Research. Vol. 69, no. 12. (January 2009.): 4959-4961.

Guda K, Natale L, Lutterbaugh J, Wiesner GL, Lewis S, Tanner SM, Tomsic J, Valle L, de la Chapelle A, Elston RC, Willis J, Markowitz SD. "Infrequent detection of germline allele-specific expression of TGFBR1 in lymphoblasts and tissues of colon cancer patients." Cancer Research. Vol. 69, (January 2009.): 4959-4961.

Dr Albert De La Chapelle. "Haller nagot stort pa att ske inom prediktiv medicin." Finska Lakaresallskapets Handlingar. Vol. 169, (January 2009.): 6-12.

Dr Albert De La Chapelle. "Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci." Oncogene. (January 2009.): -.

de la Chapelle A. "Lynch syndrome deletions in unexpected places.." Human Mutation. Vol. 30, no. 2. (February 2009.): v-.

Volinia S, Galasso M, Costinean S, Tagliavini L, Gamberoni G, Drusco A, Marchesini J, Mascellani N, Sana ME, Jarour RA, Desponts C, Teitell M, Baffa R, Aquelan R, Nickoloff B, Taccioli C, Garzon R, Di Leva G, Fabbri M, Catozzi M, Previati M, Ambs S, Palumbo T, Garofalo M, Veronese A, Bottoni A, Gasparini P, Iorio MV, Harris CC, Visone R, Pekarsky Y, de la Chapelle A, Bloom ston M, Dillhoff M, Rassenti LZ, Kipps TJ, Huebner K, Picchiori F, Lenze D, Cairo S, Buendia M-A, Pineau P, Dejean A, Zanesi N, Rossi S, Calin G, Liu C-G, Palatini J, Negrini M, Vecchione A, Rosenberg A, Croce CM. "Reprogramming of miRNA networks in cancer and leukemia." Genome Research. Vol. 20, (January 2010.): 589-599.

Buchanan DD, Sweet K, Drini M, Jenkins MA, Win AK, Gattas M, Walsh MD< Clendenning M, McKeone D, Walters R, Roberts A, Young A, Hampel H, Hoper JL, Goldblatt J, George J, Suthers GK, Phillips K, Young GP, Chow E, Parry S, Woodall S, Tucker K, Muir A, Field M, Greening S, Gallinger S, Green J, Woods MO, Spaetgens R, de la Chapelle A, Macrae F, Walker NI, Jass JR, Young P. "Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study." International Journal of Colorectal Diseases. Vol. 25, (January 2010.): 703-712.

Tomsic J, Guda K, Liyanarachchi S, Hampel H, Natale L, Markowitz SD, Tanner SM, de la Chapelle A. "Allele-specific expression of TGFBR1 in colon cancer patients." Carcinogenesis. no. e-pub ahead of print. (August 2010.): -.

Iuliano R, Palmieri D, He H, Iervolino A, Borbone E, Pallante P, Cianflone A, Nagy R, Alder H, Calin G, Trapasso F, Giordano C, Croce CM, de la Chapelle A, Fusco A. "Role of PTPRJ genotype in the risk for papillary thyroid carcinoma." Endocr Relat Cancer. no. e-pub ahead of print. (September 2010.): -.

Westman, Judith A.; Ferketich, Amy K.; Kauffman, Ross M.; MacEachern, Steven N.; Wilkins, J. R., III; Wilcox, Patricia P.; Pilarski, Robert T.; Nagy, Rebecca; Lemeshow, Stanley; de la Chapelle, Albert; Bloomfield, Clara D.. "Low cancer incidence rates in Ohio Amish." Cancer Causes & Control. Vol. 21, no. 1. (January 2010.): 69-75.

Dutch Lynch Syndrome Study Grp; Baglietto, Laura; Lindor, Noralane M.; Dowty, James G.; White, Darren M.; Wagner, Anja; Garcia, Encarna B. Gomez; Vriends, Annette H. J. T.; Cartwright, Nicola R.; Barnetson, Rebecca A.; Farrington, Susan M.; Tenesa, Albert; Hampel, Heather; Buchanan, Daniel; Arnold, Sven; Young, Joanne; Walsh, Michael D.; Jass, Jeremy; Macrae, Finlay; Antill, Yoland; et al.. "Risks of Lynch Syndrome Cancers for Msh6 Mutation Carriers." Journal of the National Cancer Institute (Cary). Vol. 102, no. 3. (January 2010.): 193-201.

Jazdzewski K, Boguslawska J, Jendrzejewski J, Liyanarachchi S, Pachucki J, Wardyn KA, Nauman A, de la Chapelle A. "Thyroid hormone receptor Beta (ThRB) is a major target gene for microRNAs deregulated in papillary thyroid carcinoma (PTC)." J Clin Endocrin Metab. no. epub. (January 2010.): -.

de la Chapelle A, Hampel H. "Clinical relevance of microsatellite instability in colorectal cancer." Journal of Clinical Oncology. no. epub ahead of print. (January 2010.): -.

Woods MO, Younghusband HB, Parfrey PS, Gallinger S, McLaughlin J, Dicks E, Stuckless S, Pollett A, Bapat B, Mrkonjic M, de la Chapelle A, Clendenning M, Thibodeau SN, Simms M, Dohey A, Williams P, Robb D, Searle C, Green JS, Green RC. "The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease." Gut. (January 2010.): -.

Baglietto L, Lindor NM, Dowty JG, White DM, Wagner A, Garcia EBG, Vriends AHJT, Dutch Lynch Syndrome Study Group, Cartwright NR, Tenesa A, Farrington SM, Barnestson RA, Hampel H, Buchanan D, Arnold S, Young J, Walsh MD, Jass J, Macrae F, Antill Y, Winship IM, Giles GG, Goldblatt J, Parry S, Suthers G, Leggett B, Butz M, Aronson M, Poynter JN, Baron JA, Colon Cancer Family Registry, Le Marchand L, Haile R, Gallinger S, Hopper JL, Potter J, de la Chapelle A, Vasen HF, Dunlop MG, Thibodeau SN, Jenkins MA. "Lynch syndrome cancer risks for MSH6 mutation carriers." J Natl Cancer Inst.. Vol. 102, (January 2010.): 193-201.

 

Reference Works

January 2005 Marcucci G, Baldus CD, Ruppert AS, Radmacher MD, Mrózek K, Whitman SP, Kolitz JE, Edwards CG, Vardiman JW, Powell BL, Baer MR, Moore JO, Perrotti D, Caligiuri MA, Carroll AJ, Larson RA, de la Chapelle A, Bloomfield CD."Overexpression of the ERG gene is an adverse prognostic factor in acute myeloid leukemia (AML) with normal cytogenetics (NC): a Cancer and Leukemia Group B Study (CALGB)" . : #23
January 2005 He H, Jazdzewski K, Li W, Liyanarachchi S, Nagy R, Volinia S, Calin GA, Liu C-G, Franssila K, Suster S, Kloos RT, Croce CM, de la Chapelle A."The role of micro-RNA genes in papillary thyroid carcinoma" . : p.7
January 2005 Hampel H, Panescu J, Sotamaa K, Fix D, Frankel W, Comeras I, Penzone P, Lombardi J, Dunn P, Cohn D, Copeland L, Eaton L, Fowler J, Lewandowski G, Vaccarello L, Bell J, Reid G, de la Chapelle A."Detection of hereditary nonpolyposis colorectal cancer (HNPCC) among newly diagnosed endometrial cancer patients" . : p. 64, #235
January 2005 Cohn DE, Zanagnolo V, Copeland LJ, Hampel H, de la Chapelle A, Kelbick N, Resnick KE, Morrison CD, Frankel WL, Fowler JM."Improved outcomes with an intact DNA mismatch repair system in endometrial cancer: A tissue microarray study including correlation with surgicopathologic variables" . : p. 86, #32
January 2005 Clendenning M, Hampel H, LaJeunesse J, Lindblom A, Lockman J, Nilbert M, Sotamaa K, de la Chapelle A:."Long range PCR facilitates the identification of PMS2 specific mutations" . : #11
January 2005 Clendenning M, Hampel H, LaJeunesse J, Lindblom A, Lockman J, Nilbert M, Sotamaa K, de la Chapelle A."Long range PCR facilitates the identification of PMS2 specific mutations" . : p. 210, #1078/F
January 2005 Katz ML, Ferketich A, Paskett ED, Westman J, Lemeshow S, Clinton S, de la Chapelle A, Bloomfield C."Cancer screening among Amish adults" San Francisco.
January 2006 Mahooti S, Hampel H, LaJeunesse J, Sotamaa K, de la Chapelle A, Frankel WL."MLH1 and PMS2 protein expression in 103 colorectal carcinomas with MLH1 promoter methylation and without MLH1 or PMS2 germline mutation" . : 113A
January 2006 Mahooti S, Hampel H, LaJeunesse J, Sotamaa K, de la Chapelle A, Frankel WL."Amsterdam criteria, Bethesda guidelines and histologic findings in 34 patients with hereditary nonpolyposis colorectal cancer" . : 113A
January 2006 Clendenning M, Hampel H, LaJeunesse J, Lindblom A, Lockman J, Nilbert M, Sotamaa K, de la Chapelle A."Long range PCR facilitates the identification of PMS2 specific mutations" . : p.73
January 2006 Pasche B, Knobloch TJ, Bian Y, Liu J, Phukan S, Rosman D, Kaklamani V, Baddi L, Siddidqui FS, Frankel W, Prior TW, Schuller DE, et al."Somatic acquisition and signaling of TGFBR1*6A in Cancer" . : 105
January 2006 De Lott LB, Smith WM, Lehman A, de la Chapelle A, Frankel WL."CDX2 staining is decreased in microsatellite unstable colorectal carcinomas" . : 106A
March 2006 de la Chapelle A."The genetic predisposition to colon cancer" . : 20
January 2007 Raval A, Tanner SM, Byrd JC, Angerman EB, Perko JD, Chen S-S, Hackanson B, Grever MR, Lucas DM, Matkovic JJ, Lin TS, Kipps TJ, Murray F, Weisenburger D, Sanger W, Lynch J, Watson P, Jansen M, Yoshinaga Y, Rosenquist R, De Jong PJ, Coggill P, Beck S, Lynch, de la Chapelle A, Plass C."Loss or reduced expression of DAPK1 contributes to heritable predisposition to CLL" . : LB
January 2007 Jenkins MA, Baglietto L, Dowty JG, Vasen HF, de la Chapelle A, Hampel HL, Dunlop MB, Thibodeau SN, Lindor NM."Risk of cancer in MSH6 mutation carriers: an international collaboration." .
January 2007 Jazdzewski K, Murray EL, He H, Nagy R, Franssila K, Jarzab B, Suster S, Kloos RT, Schoenberg DR, de la Chapelle A."Polymorphism and somatic mutation within pre-miR146a change the predisposition to Papillary Thyroid Carcinoma (PTC)" . : # 85057
January 2007 Jazdzewski K, Liyanarachchi S, Ambroziak M, Liu C-G, Pachucki J, de la Chapelle A.."MicroRNAs regulate CTLA-4, PTPN22, and CD40 genes expression and contribute to the pathogenesis of Graves’ disease." .
January 2007 Alam S, Hampel H, Bloomston M, LaJeunesse J, de la Chapelle A, Frankel WL."Tissue microarrays provide a cost-effective method for screening colorectal carcinomas for Lynch syndrome." .
January 2007 South CD, Hampel H, Comeras I, Westman J, de la Chapelle A."Prevalence of Muir-Torre syndrome in a Lynch syndrome database" .
February 2007 Sotamaa K, Tanner SM, de la Chapelle A."Heritable predisposition to epigenetic silencing of MLH1" Columbus. : #94
February 2007 Langer C, Ruppert AS, Radmacher MD, Whitman SP, Paschka P, Baldus CD, Mrozek K, Kollitz JE, Marcucci G, de la Chapelle A, Bloomfield CD."High BAALC expression associates with other molecular prognostic markers, poor outcome and a distinct gene expression signature in cytogenetically normal acute myeloid leukemia (CN AML): A Cancer and Leukemia Group B (CALGB) study" Columbus. : #73
February 2007 Clendenning M, Walsh K, Liyanarachchi S, Fix D, Comeras I, Hampel H, de la Chapelle A."New haplotype and genealogical data give important implications for the origins and prevalence of the American Founder Mutation of MSH2" . : #63
November 2007 Senter L, Clendenning M, Hampel H, Sotamaa K, de la Chapelle A."Clinical phenotype of individuals with germline mutations in the PMS2 gene." . : 31
January 2008 He H, Nagy R, Jiao H, Liyanarachchi S, Li W, Kere J, de la Chapelle A."A susceptibility locus for papillary thyroid carcinoma maps to chromosome 8q24." San Diego. : 4688
January 2008 Jazdzewski K, Liyanarachchi S, Pachucki J, de la Chapelle A."Alternative mature microRNAs from passenger strand of pre-miR-146A contribute to predisposition to papillary thyroid carcinoma" . : 185
January 2008 de la Chapelle A."The role of founder mutations in Lynch syndrome" .
April 2009 Gudmundsson J, Sulem P, Jonasson JG, Gudbjartsson D, He H, Geller F, Stacey SN, Li W, Nagy R, Aguillo E, Faure E, Prts E, Saez B, Godino J, Kristvinsson H, Gulcher JR, Jonsson T, Rafnar T, Hjartarsson H, Mayordomo JI, de la Chapelle A, Hrafnkelsson J, Thorsteindottir U, Kong A, Stefansson K."Common sequence variants confer susceptibility to thyroid cancer: Results from a genome-wide association study." Denver. : 1906
May 2009 Parry S, Walsh MD, Pearson S-A, Buchanan D, Walters R, Sweet K, de la Chapelle A, Walker NI, Young J."Does expression of the gastric mucin MUC6 help identify advanced serrated colorectal polyps?" . : A450
January 2009 Jendrzejewski J, Tomsic J, Li W, He H, de la Chapelle A."Telomere length and telomerase reverse transcriptase gene copy number in patients with papillary thyroid carcinoma" . : #86
January 2009 Jazdzewski K, Liyanarachchi S, Swierniak M, Pachucki J, Ringel MD, Jarzab B, de la Chapelle A."Polymorphic mature microRNAS from passenger strand of pre-mir-146a contribute to thyroid cancer" . : #85

Inventions and Patents

Dr Albert De La Chapelle. "Means for detecting familial colon cancer (FCC)." Filed February 1996.

Dr Albert De La Chapelle. "Anhidrotic ectodermal dysplasia gene and method of detecting same." Filed September 1996.

Dr Albert De La Chapelle. "Human MSH protein." Filed January 1997.

Dr Albert De La Chapelle. "Molecular cloning of the anhidrotic ectodermal dysplasia gene." Filed December 1997.

Dr Albert De La Chapelle. "Diagnositc method employing MSH2 nucleic acids." Filed December 1997.

Dr Albert De La Chapelle. "Diagnostic method employing MSH2 protein." Filed November 1998.

 

Presentations

"Is Predictive Testing for Common Cancers Now a REality?." Presented at Teh Medical Scientist Student Organization of the Ohio State University Forum, Columbus, OH, US|USA. (January 1997)

"Molecular Screening Strategies to Identify Individuals at High Risk for Colorectal and Endometrial Cancer." Presented at The Tim de Dombal Lecture, World Congress of Gastroenterology, Vienna, AT|AUT. (January 1998)

"High-and Low-Penetrance Genes in Cancer Predispositions." Presented at The European Society of Human Genetics Annual Meeting, Lisbon, PT|PRT. (January 1998)

"Genetic Predisposition to Colon Cancer." Presented at Case Western Reserve University Seminar, Cleveland, OH. (January 1998)

"Genetic Predisposition to Colon Cancer." Presented at The Simon M. Shubitz Cancer Lecture, Chicago, IL. (January 1998)

"Genetic Predisposition to Colon Cancer." Presented at The Wick R. Williams Memorial Lecture, Philadelphia, PA. (January 1998)

"Genes Predisposing to Colorectal Cancer." Presented at The XIX Congress of Polish Oncological Society, Gdansk, PL|POL. (January 1998)

"From Laboratory to Clinic: The Impact of the Discovery of Genes for Hereditary Colon Cancer on Current Patient Management." Presented at The Future is Now: Genetics in Cancer Prevention and Diagnosis, Dayton, OH. (January 1998)

"Colon Cancer Genetics." Presented at The International Association of Cancer Registries, 32nd Annual Conference,, Atlanta, GA. (January 1998)

"Genetic Predisposition to Cancer. (in Swedish)." Presented at The Finnish Academy of Science, Helsinki, FI|FIN. (January 1999)

"Molecular Genetic Diagnosis for Hereditary Cancer." Presented at The American Society of Clinical Oncology, Thirty-Fifth Annual Meeting, Atlanta, GA. (January 1999)

"Hereditary Predisposition to Colon Cancer." Presented at The Dana-Farber Cancer Institute Seminars in Oncology and the Harvard Longwood Seminar in the Genetics of Cancer and Aging, Boston, MA. (January 1999)

"Hereditary Colon Cancer." Presented at The Department of Medical and Molecular Genetics, Indiana University School of Medicine, . (January 1999)

"Hereditary Cancer Susceptibility Syndromes." Presented at The Genetics and Molecular Biology…From Discovery to Practice Symposium, Honolulu, HI. (January 1999)

"Genetic Predisposition to Colorectal Cancer." Presented at The Medical Scientist Training Program, and Department of Genetics, Baylor College of Medicine, Houston, TX. (January 1999)

"Genetic Predisposition to Colon Cancer." Presented at The Department of Molecular Genetics, Biochemistry & Microbiology, University of Cincinnati, Cincinnati, OH. (January 1999)

"Genes Predisposing to Colorectal Cancer." Presented at The Burnham Institute, San Diego, California, Distinguished Seminar Series, San Diego, CA. (January 1999)

"Genes Predisposing to Colon Cancer." Presented at The ECCO 10, The European Cancer Conference, Vienna, AT|AUT. (January 1999)

"Population-wide Molecular Screening for HNPCC-Should it be Done." Presented at The 12th International Collaborative Group for Hereditary Non-polyposis Colorectal Cancer Meeting, Tiberias, IL|ISR. (January 2000)

"Molecular Genetics of Colon Cancer in the Clinical Context." Presented at The Gordon Research Conference on “Genes and Cancer: Pathways, Mutations and Genomics", Newport, RI. (January 2000)

"Has Gene Discovery Benefitted the Colorectal Cancer Patient?." Presented at The Gastrointestinal Cancer Symposium, University of California, San Francisco, CA. (January 2000)

"Genetic Predisposition to Colon Cancer." Presented at The Rudbeck Symposium: Cancer—from Molecular Mechanisms to Clinical Therapy, Uppsala, SE|SWE. (January 2000)

"Cancer is a Genetic Disease." Presented at The Genetic Challenge Symposium, Department of Genetics, Lund, SE|SWE. (January 2000)

"Cancer is a Genetic Disease." Presented at The Genetic Challenge Symposium, Department of Genetics, Lund, SE|SWE. (January 2000)

"Population-based Molecular Screening for HNPCC and its Implications." Presented at The American Association for Cancer Research International Conference, Seoul. (January 2001)

"Population-based Molecular Screening for Hereditary Nonpolyposis Colorectal Cancer and its Implications." Presented at The National Cancer Institute, Center for Cancer Research, Bethesda, MD. (January 2001)

"Methylation and Imprinting in Colon Cancer." Presented at The American Association for Cancer Research, Conference on Genetic Modifiers of Cancer Susceptibility: Lessons from Human Population Studies and Mouse Models, Lake Tahoe, NV. (January 2001)

"Hereditary Nonpolyposis Colorectal Cancer: Population-based Molecular Screening and its Implications." Presented at The Yonsei University Cancer Conference, Seoul. (January 2001)

"Hereditary Nonpolyposis Colorectal Cancer: Natural History, Mutation Detection and Molecular Screening." Presented at The American Society of Human Genetics Annual Meeting, San Diego, CA. (January 2001)

"Hereditary Colon Cancer: Molecular Diagnosis, Population-wide Screening and Prevention." Presented at The University of Wisconsin Genetics Colloquium on the Genetic Analysis of Human Biology, Madison, WI. (January 2001)

"Has Gene Detection Benefitted the Cancer Patient." Presented at The Tenth International Congress of Human Genetics, Vienna, AT|AUT. (January 2001)

"Genetic Predisposition to Colorectal Cancer." Presented at The Keystone Symposium: The Molecular Medicine of Colorectal Cancer, Taos, NM. (January 2001)

"Genetic Predisposition to Colon Cancer." Presented at The Rudbeck Symposium: Cancer—from Molecular Mechanisms to Clinical Therapy, Uppsala, SE|SWE. (January 2001)

"Can Genetic Testing be Used in the Prevention of Cancer?." Presented at The Université Libre de Bruxelles, Fondation Erasme, Brussels, BE|BEL. (January 2001)

"Translational Cancer Genetics: From Mismatch Repair Deficiency to Cancer Prevention." Presented at The Mildred Scheel Cancer Conference, Gästehaus Petersberg, DE|DEU. (January 2002)

"Molecular Screening for Mismatch Repair Related Cancer." Presented at The American Association for Cancer Research Conference on Colon Cancer: Genetics to Prevention, Philadelphia, PA. (January 2002)

"Inherited Human Diseases: Challenges, Victories and Disappointments." Presented at The American Society of Human Genetics William Allan Award Presentation and Lecture, Baltimore, MD. (January 2002)

"Genetic and Epigenetic Predisposition to Colon Cancer." Presented at 229. Joint International Journal of Cancer/Meyenburg-Stiftung Lectureship, Heidelberg, DE|DEU. (January 2002)

"BAALC, the Human Member of a Novel Mammalian Neuroectoderm Gene Lineage, is Implicated in Hematopoiesis and Acute Leukemia." Presented at The European Society of Human Genetics Mauro Baschirotto Award Lecture, Strasbourg, FR|FRA. (January 2002)

"BAALC, the Human Member of a Novel Mammalian Neuroectoderm Gene Lineage, is Implicated in Hematopoiesis and Acute Leukemia." Presented at The Finnish Association for Medical Genetics, 25th Anniversary Seminar, Helsinki, FI|FIN. (January 2002)

"Ossian Schauman's Institute of Genetics." Presented at Folkhalsan Institute of Genetics 40th Anniversary Seminar, Helsinki, FI|FIN. (February 2003)

"The Genetics of Selective Intestinal Malabsorption of Vitamin B12." Presented at Folkhalsan Institute of Genetics 40th Anniversary Seminar, Helsinki, FI|FIN. (January 2003)

"Population-based Screening for Predisposition to Cancers Caused by Mismatch Repair Deficiency.." Presented at The Karolinska Research Lectures at Nobel Forum, Stockholm, SE|SWE. (January 2003)

"Microsatellite Instability Versus Immunohistochemistry in the Screening for Mismatch Repair Deficiency." Presented at The Diagnostic Guidelines for Hereditary Non-Polyposis Colorectal Cancer and Microsatellite Instability Meeting, Bethesda, MD. (January 2003)

"The Genetics of Selective Intestinal Malabsorption of Vitamin B12." Presented at The Folkhalsan Institute of Genetics 40th Anniversary Seminar, Helsinki, FI|FIN. (February 2003)

"How Should the Screening and Surveillance of Hereditary Colon Cancer be Organized in Finland." Presented at Finnish Cancer Foundation 30th Symposium, Helsinki, FI|FIN. (February 2003)

"Is Large Scale Molecular Screening for Hereditary Colorectal Cancer Feasible?." Presented at The Environmental Mutagen Society: "Environmental Mutagenesis: From Mechansims to Risk Assessment, Miami, FL. (May 2003)

"A Geneticist's Perspective on Lynch Syndrome." Presented at The Evanston Northwestern Healthcare Inaugural Henry Lynch Lectureship, Evanston, IL. (May 2003)

"Update on HNPCC." Presented at Family Cancer: Biology & Clinical Care, Oklahoma City, OK. (June 2003)

"Genetic and Epigenetic Predisposition to Colon Cancer." Presented at The Danish Society of Medical Genetics 25th Anniversary Meeting, Copenhagen, DK|DNK. (April 2003)

"Challenges of 'New' Genes: BAALC in Acute Leukemia." Presented at The 4th Benjamin Franklin Stem Cell Workshop, Berlin, DE|DEU. (October 2004)

"Genetic Predisposition to Colon Cancer." Presented at Sigrid Juselius 75th Anniversary Symposium, Helsinki, FI|FIN. (June 2005)

"Genes in the Predisposition to Colon Cancer." Presented at The Piedmont Oncology Association Fall Symposium, Myrtle Beach, SC. (September 2005)

"Genetic Predisposition to Colon Cancer." Presented at Cancer Genetics 2005, Bridging Science to Practice, Philadelphia, PA. (March 2005)

"Genetic Predisposition to Colon Cancer." Presented at American Association for Cancer Research 96th Annual Meeting, Anaheim, CA. (April 2005)

"Hereditary colorectal Cancer: How to Integate Testing into Clinical Practice." Presented at American Society of Clinical Oncology Annual Meeting, Atlanta, GA. (June 2006)

"The Genetic Predisposition to Colon Cancer." Presented at The American Association for Cancer Research, Cancer Susceptibility and Cancer Susceptibility Syndromes, Maui, HI. (March 2006)

"A Proposal to Screen all Colorectal Cancer Patients for Predisposing Mutations." Heidelberg, DE|DEU. (March 2006)

"Concluding Remarks." Presented at 50 Years of 46 Human Chromosomes: Progress in Cytogenetics, Bethesda, MD. (July 2006)

"Screening for Lynch Syndrome." Presented at Department of Veterans Affairs, Hereditary Non-Polyposis Colorectal Cancer Advisory Meeting, Washington, DC. (September 2007)

"Mutations in the PMS2 Gene." Presented at Etiological Pathways in Colorectal Cancer: Implications for Future Studies, Santa Monica, CA. (September 2007)

"Colon Cancer Genes." Presented at Cancer Genetics Seminar Series, St. Louis, MO. (February 2007)

"Genetic Testing for Colorectal Cancer Predisposition." Presented at American Association for Cancer Research Annual Meeting, Los Angelesq, CA. (April 2007)

"Genes in the Predisposition to Colon Cancer." Presented at Cancer and Heredity Symposium, Groningen. (November 2007)

"Genes in the Predisposition to Colon Cancer." Presented at Centro Nacional de Investigaciones Oncologicas Seminar Series, Madrid, ES|ESP. (January 2008)

"Genetic Predisposition to Colorectal Cancer." Presented at International Symposium on Cancer Genotypes and Cancer Phenotypes, Florence, IT|ITA. (July 2008)

 

Professional Activities

1977 - present President. Sixth International Chromosome Conference.
1977 - present Head of Organizing Committee. International Symposium on Clinical Genetics.
1977 - present Co-Organizer. First International Workshop on Chromosomes in Leukemia.
1984 - present President. Third Nordic Conference on Medical Genetics.
1985 - present European School of Haematology.
1985 - present Organizer. Eighth Human Gene Mapping Workshop.
1986 - present Howard Hughes Medical Institute.
1986 - present The Ninth International Chromosome Conference.
1986 - present The Seventh International Congress of Human Genetics.
1988 - present The International Olympic Committee.
1988 - present Association des Cytogeneticiens de Langue Francaise.
1989 - present Human Genome Organization (HUGO).
1989 - present The Tenth International Chromosome Conference.
1990 - present Scientific Advisory Board Member. Department of Medical Genetics, University of Uppsala, Sweden.
1990 - present Centre d'Etude du Polymorphisme Humaine.
1990 - present Department of Medical Genetics, University of Uppsala, Sweden.
1994 - present European Union.
1994 - present Genome Interactive Databases.
1995 - present Chairman. Famfundet Folkhalsan, Committee for the Genetics Clinic.
1996 - present European commission Working Group on Cancer Research.
1997 - present Member of the Genetics Advisory Group. The Wellcome Trust.
1997 - present Faculty member. First Baltic Postgraduate Course in Medical Genetics, Vilnius, Lithuania.
1997 - present General Motors Mott Prize Selection Committee.
2000 - present Member of Council. International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer.
2003 - present External Advisory Board Member. Cleveland G-I SPORE.
2004 - present Advisory Board Member. Genome Atlantic, Canada.
2006 - present External Advisory Board Member. Case Western Reserve University Cancer Genetics Program.
2007 - present Member. International Multidisciplinary Community Genetics Network.
1974 - 1976 European Environmental Mutagen Society.
1977 - 1980 The Finnish Society of Medical Genetics.
1983 - 1985 Chairman. International Human Gene Mapping Workshops.
1981 - 1986 Member of permanent committee. International Congress of Human Genetics.
1984 - 1990 International Workshops on Chromosomes in Leukemia.
1986 - 1990 International Conference on Prenatal Dignosis & Therapy.
1990 Co-Organizer. Nobel Symposium on th eEtiology of Human Disease at the DNA level.
1983 - 1991 International Human Gene Mapping Workshops.
1988 - 1991 The Eighth International Congress of human Genetics.
1990 - 1991 Chairman, Aims and Statutes Committee. European Society of Human Genetics.
1990 - 1991 European Society of Human Genetics.
1991 - 1992 Gene Mapping Committee.
1993 Organizer. Research Conference on Inherited Disorders & Their Genes in Different European Populations.
1993 - 1994 President. European Society of Human Genetics.
1993 - 1994 Member of planning committee for a Finnish genome initiative. Academy of Finland.
1993 - 1994 European Society of Human Genetics.
1966 - 1995 European Society of Human Genetics.
1990 - 1997 European Union.
1990 - 1997 Nordic Human Genome Project.
1992 - 1997 European Union.
1994 - 1997 European Union.
1995 - 1998 Consultant. Swedish Cultural Foundation of Finland.
1998 Teaching. University of Helsinki, course on Chromosome and Gene Alterations in Cancer.
1999 Reviewer. MIT Cancer Center, NCI site visit.
1996 - 2000 Permanent member. Finnish National Board of Medicolegal Affairs.
2003 - 2004 Reviewer. Centres of Excellence Program, Denmark.