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Albert de La Chapelle

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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de la Chapelle A
Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci.
Jazdzewski Krystian; Liyanarachchi Sandya; Swierniak Michal; Pachucki Janusz; Ringel Matthew D; Jarzab Barbara; de la Chapelle Albert
Polymorphic mature microRNAs from passenger strand of pre-miR-146a contribute to thyroid cancer.
Zeng Qinghua; Phukan Sharbani; Xu Yanfei; Sadim Maureen; Rosman 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.

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All Publications

2009: de la Chapelle A
Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci.
Oncogene 2009;28(38):3345-8.
2009: Jazdzewski Krystian; Liyanarachchi Sandya; Swierniak Michal; Pachucki Janusz; Ringel Matthew D; Jarzab Barbara; de la Chapelle Albert
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 2009;106(5):1502-5.
2009: Zeng Qinghua; Phukan Sharbani; Xu Yanfei; Sadim Maureen; Rosman 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 2009;69(2):678-86.
2009: 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 2009;69(2):625-31.
2008: Hampel Heather; Frankel Wendy L; Martin Edward; Arnold Mark; Khanduja Karamjit; Kuebler Philip; Clendenning Mark; Sotamaa Kaisa; Prior Thomas; Westman Judith A; Panescu Jenny; Fix Dan; Lockman Janet; LaJeunesse Jennifer; Comeras Ilene; de la Chapelle Albert
Feasibility of screening for Lynch syndrome among patients with colorectal cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2008;26(35):5783-8.
2008: 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 (New York, N.Y.) 2008;321(5894):1361-5.
2008: 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 2008;135(2):419-28.
2008: Langer Christian; Radmacher Michael D; Ruppert Amy S; Whitman Susan P; Paschka Peter; Mrózek 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;
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) study.
Blood 2008;111(11):5371-9.
2008: 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 2008;45(6):340-5.
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 2008;105(20):7269-74.
2008: Lynch Henry T; Drescher Kristen M; de la Chapelle Albert
Immunology and the Lynch syndrome.
Gastroenterology 2008;134(4):1246-9.
2008: Clendenning Mark; Baze Mark E; Sun Shuying; Walsh Kyle; Liyanarachchi Sandya; Fix Dan; Schunemann Victoria; Comeras Ilene; Deacon Molly; Lynch Jane F; Gong Gordon; Thomas Brittany C; Thibodeau Stephen N; Lynch Henry T; Hampel Heather; de la Chapelle Albert
Origins and prevalence of the American Founder Mutation of MSH2.
Cancer research 2008;68(7):2145-53.
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 2008;100(4):277-81.
2007: Plass Christoph; Byrd John C; Raval Aparna; Tanner Stephan M; de la Chapelle Albert
Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genes.
British journal of haematology 2007;139(5):744-52.
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; Bell Jeffrey; Reid Gary; Lewandowski George; Vaccarello Luis
Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients.
Cancer research 2007;67(19):9603.
2007: 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 2007;143A(15):1796-8.
2007: Raval Aparna; Tanner Stephan M; Byrd John C; Angerman Elizabeth B; Perko James D; Chen Shih-Shih; Hackanson Björn; 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; de Jong Pieter J; Coggill Penny; Beck Stephan; Lynch Henry; de la Chapelle Albert; Plass Christoph
Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.
Cell 2007;129(5):879-90.
2007: Jalkanen Reetta; Bech-Hansen N Torben; Tobias Rose; Sankila Eeva-Marja; Mäntyjärvi Maija; Forsius Henrik; de la Chapelle Albert; Alitalo Tiina
A novel CACNA1F gene mutation causes Aland Island eye disease.
Investigative ophthalmology & visual science 2007;48(6):2498-502.
2007: Chen Huiping; Taylor Nicholas P; Sotamaa Kaisa M; Mutch David G; Powell Matthew A; Schmidt Amy P; Feng Sheng; Hampel Heather L; de la Chapelle Albert; Goodfellow Paul J
Evidence for heritable predisposition to epigenetic silencing of MLH1.
International journal of cancer. Journal international du cancer 2007;120(8):1684-8.
2007: Vasko Vasily; Espinosa Allan V; Scouten William; He Huiling; Auer Herbert; Liyanarachchi Sandya; Larin Alexander; Savchenko Victoria; Francis Gary L; de la Chapelle Albert; Saji Motoyasu; Ringel Matthew D
Gene expression and functional evidence of epithelial-to-mesenchymal transition in papillary thyroid carcinoma invasion.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(8):2803-8.
2007: Liskova Petra; Hysi Pirro G; Williams Denise; Ainsworth John R; Shah Sunil; de la Chapelle Albert; Tuft Stephen J; Bhattacharya Shomi S
Study of p.N247S KERA mutation in a British family with cornea plana.
Molecular vision 2007;13():1339-47.
2006: Ollila Saara; Sarantaus Laura; Kariola Reetta; Chan Philip; Hampel Heather; Holinski-Feder Elke; Macrae Finlay; Kohonen-Corish Maija; Gerdes Anne-Marie; Peltomäki Päivi; Mangold Elisabeth; de la Chapelle Albert; Greenblatt Marc; Nyström Minna
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Gastroenterology 2006;131(5):1408-17.
2006: Zervos Emmanuel E; Tanner Stephan M; Osborne Dana A; Bloomston Mark; Rosemurgy Alexander S; Ellison E Christopher; Melvin W Scott; de la Chapelle Albert
Differential gene expression in patients genetically predisposed to pancreatic cancer.
The Journal of surgical research 2006;135(2):317-22.
2006: 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; Vaccarello Luis; Bell Jeffrey; Reid Gary; de la Chapelle Albert
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.
Cancer research 2006;66(15):7810-7.
2006: Yearsley Martha; Hampel Heather; Lehman Amy; Nakagawa Hidewaki; de la Chapelle Albert; Frankel Wendy L
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 pathology 2006;37(7):831-8.
2006: 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 2006;27(5):490-5.
2006: Lynch Henry T; Boland C Richard; Gong Gordon; Shaw Trudy G; Lynch Patrick M; Fodde Riccardo; Lynch Jane F; de la Chapelle Albert
Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications.
European journal of human genetics : EJHG 2006;14(4):390-402.
2006: 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 2006;106(2):448-52.
2005: 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 2005;102(52):19075-80.
2005: Marcucci Guido; Baldus Claudia D; Ruppert Amy S; Radmacher Michael D; Mrózek 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 2005;23(36):9234-42.
2005: 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; Hampel Heather; Nilsson IngMarie; von Heijne Gunnar; Fodde Riccardo; Murty V V V S; de la Chapelle Albert; Weghorst Christopher M
Somatic acquisition and signaling of TGFBR1*6A in cancer.
JAMA : the journal of the American Medical Association 2005;294(13):1634-46.
2005: Sotamaa Kaisa; Liyanarachchi Sandya; Mecklin Jukka-Pekka; Järvinen Heikki; Aaltonen Lauri A; Peltomäki Päivi; 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 2005;11(19 Pt 1):6840-4.
2005: Raevaara Tiina E; Korhonen Mari K; Lohi Hannes; Hampel Heather; Lynch Elly; Lönnqvist Karin E; Holinski-Feder Elke; Sutter Christian; McKinnon Wendy; Duraisamy Sekhar; Gerdes Anne-Marie; Peltomäki Päivi; Kohonen-Ccorish Maija; Mangold Elisabeth; Macrae Finlay; Greenblatt Marc; de la Chapelle Albert; Nyström Minna
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Gastroenterology 2005;129(2):537-49.
2005: 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 2005;129(2):415-21.
2005: He Qianchuan; Madsen Mette; Kilkenney Adam; Gregory Brittany; Christensen Erik I; Vorum Henrik; Højrup Peter; Schäffer Alejandro A; Kirkness Ewen F; Tanner Stephan M; de la Chapelle Albert; Giger Urs; Moestrup Søren K; Fyfe John C
Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo.
Blood 2005;106(4):1447-53.
2005: 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 2005;15(7):660-7.
2005: 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 2005;26(7):1061-4.
2005: 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 2005;352(18):1851-60.
2005: Bian Yansong; Caldes Trinidad; Wijnen Juul; Franken Patrick; Vasen Hans; Kaklamani Virginia; Nafa Khédoudja; 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 2005;23(13):3074-8.
2005: 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 2005;5(4):463-73.
2005: Tanner Stephan M; Li Zhongyuan; Perko James D; Oner Cihan; Cetin Mualla; Altay Cigdem; Yurtsever Zekiye; David Karen L; Faivre Laurence; Ismail Essam A; Gräsbeck 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 2005;102(11):4130-3.
2005: 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 2005;18(1):48-57.
2005: de la Chapelle Albert
The incidence of Lynch syndrome.
Familial cancer 2005;4(3):233-7.
2004: de la Chapelle Albert
Genetic predisposition to colorectal cancer.
Nature reviews. Cancer 2004;4(10):769-80.
2004: Kariola R; Hampel H; Frankel W L; Raevaara T E; de la Chapelle A; Nyström-Lahti M
MSH6 missense mutations are often associated with no or low cancer susceptibility.
British journal of cancer 2004;91(7):1287-92.
2004: 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 2004;22(17):3531-9.
2004: Nakagawa Hidewaki; Liyanarachchi Sandya; Davuluri Ramana V; Auer Herbert; Martin Edward W; 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 2004;23(44):7366-77.
2004: 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 2004;64(14):4721-7.
2004: 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 2004;45(1):39-46.
2004: 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; Gräsbeck 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 2004;23(4):327-33.
2004: 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 2004;14(3):169-75.
2004: Baldus Claudia D; Liyanarachchi Sandya; Mrózek Krzysztof; Auer Herbert; Tanner Stephan M; Guimond Martin; Ruppert Amy S; Mohamed Nehad; Davuluri Ramana V; Caligiuri Michael A; Bloomfield Clara D; de la Chapelle Albert
Acute myeloid leukemia with complex karyotypes and abnormal chromosome 21: Amplification discloses overexpression of APP, ETS2, and ERG genes.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(11):3915-20.
2004: Fyfe John C; Madsen Mette; Højrup Peter; Christensen Erik I; Tanner Stephan M; de la Chapelle Albert; He Qianchuan; Moestrup Søren K
The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.
Blood 2004;103(5):1573-9.
2004: Umar Asad; Boland C Richard; Terdiman Jonathan P; Syngal Sapna; de la Chapelle Albert; Rüschoff 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 Païvi; Ramsey Scott D; Rodriguez-Bigas Miguel A; Vasen Hans F A; Hawk Ernest T; Barrett J Carl; Freedman Andrew N; Srivastava Sudhir
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
Journal of the National Cancer Institute 2004;96(4):261-8.
2004: 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 2004;291(6):718-24.
2003: 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 2003;31(11):1051-6.
2003: 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 2003;22(3):258.
2003: 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 2003;102(5):1613-8.
2003: de la Chapelle Albert
Microsatellite instability.
The New England journal of medicine 2003;349(3):209-10.
2003: Kolehmainen Juha; Black Graeme C M; Saarinen Anne; Chandler Kate; Clayton-Smith Jill; Träskelin 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 2003;72(6):1359-69.
2003: 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; Lynch Henry T; Fodde Riccardo
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 2003;72(5):1088-100.
2003: 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 2003;104(6):735-44.
2003: 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 2003;63(3):215-8.
2003: Lynch Henry T; de la Chapelle Albert
Hereditary colorectal cancer.
The New England journal of medicine 2003;348(10):919-32.
2003: 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 2003;33(3):426-9.
2003: de la Chapelle Albert
2002 William Allan Award Address. Inherited human diseases: victories, challenges, disappointments.
American journal of human genetics 2003;72(2):236-40.
2002: 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 2002;99(24):15632-7.
2002: 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 2002;62(16):4579-82.
2002: Zhou Xiao-Ping; Loukola Anu; Salovaara Reijo; Nystrom-Lahti Minna; Peltomäki Päivi; de la Chapelle Albert; Aaltonen Lauri A; Eng Charis
PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers.
The American journal of pathology 2002;161(2):439-47.
2002: 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 2002;10(8):449-56.
2002: 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 2002;20(4):897-9.
2001: 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 2001;98(26):15044-9.
2001: 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 2001;98(24):13895-900.
2001: Tanner S M; Austin J L; Leone G; Rush L J; Plass C; Heinonen K; Mrózek 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 2001;98(24):13901-6.
2001: Nakagawa H; Nuovo G J; Zervos E E; Martin E W; 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 2001;61(19):6991-5.
2001: Joensuu T; Hämäläinen 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 2001;69(4):673-84.
2001: Burghes A H; Vaessin H E; de La Chapelle A
Genetics. The land between Mendelian and multifactorial inheritance.
Science (New York, N.Y.) 2001;293(5538):2213-4.
2001: 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 2001;38(7):461-6.
2001: 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 2001;108(2):109-15.
2001: Ridanpää M; van Eenennaam H; Pelin K; Chadwick R; Johnson C; Yuan B; vanVenrooij W; Pruijn G; Salmela R; Rockas S; Mäkitie O; Kaitila I; de la Chapelle A
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
Cell 2001;104(2):195-203.
2001: 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 2001;98(3):1124-9.
2001: 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 2001;98(2):591-6.
2001: Eng C; Hampel H; de la Chapelle A
Genetic testing for cancer predisposition.
Annual review of medicine 2001;52():371-400.
2000: 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 2000;16(6):530.
2000: Desai D C; Lockman J C; Chadwick R B; Gao X; Percesepe 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 2000;37(9):646-52.
2000: 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 2000;96(2):405-9.
2000: Salovaara R; Loukola A; Kristo P; Kääriäinen H; Ahtola H; Eskelinen M; Härkönen N; Julkunen R; Kangas E; Ojala S; Tulikoura J; Valkamo E; Järvinen 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 2000;18(11):2193-200.
2000: 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 2000;8(5):381-4.
2000: Pellegata N S; Dieguez-Lucena J L; Joensuu T; Lau S; Montgomery K T; Krahe R; Kivelä T; Kucherlapati R; Forsius H; de la Chapelle A
Mutations in KERA, encoding keratocan, cause cornea plana.
Nature genetics 2000;25(1):91-5.
2000: Kuismanen S A; Holmberg M T; Salovaara R; de la Chapelle A; Peltomäki P
Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers.
The American journal of pathology 2000;156(5):1773-9.
2000: Järvinen H J; Aarnio M; Mustonen H; Aktan-Collan K; Aaltonen L A; Peltomäki 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 2000;118(5):829-34.
2000: 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 2000;29(1):71-3.
2000: 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 2000;97(6):2662-7.
2000: Maury C P; Liljeström M; Boysen G; Törnroth 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 2000;53(2):95-9.
2000: Joensuu T; Hämäläinen 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 2000;63(3):409-16.
2000: Aktan-Collan K; Mecklin J P; de la Chapelle A; Peltomäki P; Uutela A; Kääriäinen H
Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer.
Journal of medical genetics 2000;37(2):108-13.
2000: Aktan-Collan K; Mecklin J P; Järvinen H; Nyström-Lahti M; Peltomäki P; Söderling I; Uutela A; de la Chapelle A; Kääriäinen H
Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction.
International journal of cancer. Journal international du cancer 2000;89(1):44-50.
1999: Wallgren-Pettersson C; Pelin K; Hilpelä 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; Laing N G; de la Chapelle A
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.
Neuromuscular disorders : NMD 1999;9(8):564-72.
1999: Loukola A; Salovaara R; Kristo P; Moisio A L; Kääriäinen H; Ahtola H; Eskelinen M; Härkönen N; Julkunen R; Kangas E; Ojala S; Tulikoura J; Valkamo E; Järvinen H; Mecklin J P; de la Chapelle A; Aaltonen L A
Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer.
The American journal of pathology 1999;155(6):1849-53.
1999: Nyström-Lahti M; Holmberg M; Fidalgo P; Salovaara R; de la Chapelle A; Jiricny J; Peltomäki P
Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds.
Genes, chromosomes & cancer 1999;26(4):372-5.
1999: 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 1999;63(Pt 6):521-33.
1999: Loukola A; de la Chapelle A; Aaltonen L A
Strategies for screening for hereditary non-polyposis colorectal cancer.
Journal of medical genetics 1999;36(11):819-22.
1999: Lynch H T; de la Chapelle A
Genetic susceptibility to non-polyposis colorectal cancer.
Journal of medical genetics 1999;36(11):801-18.
1999: Kuismanen S A; Holmberg M T; Salovaara R; Schweizer P; Aaltonen L A; de La Chapelle A; Nyström-Lahti M; Peltomäki P
Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(22):12661-6.
1999: 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 1999;23(2):233-6.
1999: Hästbacka 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 1999;7(6):664-70.
1999: 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.
The American journal of pathology 1999;155(2):349-53.
1999: 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 1999;5(6):656-61.
1999: de la Chapelle A
Testing tumors for microsatellite instability.
European journal of human genetics : EJHG 1999;7(4):407-8.
1999: 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 1999;7(3):368-76.
1999: Aarnio M; Sankila R; Pukkala E; Salovaara R; Aaltonen L A; de la Chapelle A; Peltomäki P; Mecklin J P; Järvinen H J
Cancer risk in mutation carriers of DNA-mismatch-repair genes.
International journal of cancer. Journal international du cancer 1999;81(2):214-8.
1999: Aminoff M; Carter J E; Chadwick R B; Johnson C; Gräsbeck 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 1999;21(3):309-13.
1999: Paavola P; Avela K; Horelli-Kuitunen N; Bärlund M; Kallioniemi A; Idänheimo N; Kyttälä 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 1999;9(3):267-76.
1999: Pelin K; Hilpelä 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 1999;96(5):2305-10.
1999: 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 1999;64(1):126-35.
1999: Moseley R H; Höglund 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 1999;276(1 Pt 1):G185-92.
1999: 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 1999;116(1):58-63.
1999: Höglund P; Holmberg C; Haila S; de la Chapelle A; Kere J
[Congenital chloride diarrhea gene error in the anion transporter protein]
Duodecim; lääketieteellinen aikakauskirja 1999;115(17):1833-41.
1998: 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 1998;95(21):12416-23.
1998: Höglund 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 1998;63(3):760-8.
1998: Haila S; Höglund 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 1998;214(1-2):87-93.
1998: Percesepe A; Kristo P; Aaltonen L A; Ponz de Leon M; de la Chapelle A; Peltomäki P
Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability.
Oncogene 1998;17(2):157-63.
1998: de la Chapelle A; Peltomäki P
The genetics of hereditary common cancers.
Current opinion in genetics & development 1998;8(3):298-303.
1998: Aaltonen L A; Salovaara R; Kristo P; Canzian F; Hemminki A; Peltomäki P; Chadwick R B; Kääriäinen H; Eskelinen M; Järvinen 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 1998;338(21):1481-7.
1998: Ala-Mello S; Sankila E M; Koskimies O; de la Chapelle A; Kääriäinen 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 1998;35(4):279-83.
1998: 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; Hemminki A; Avizienyte E; de la Chapelle A; Aaltonen L; Tomlinson I
Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.
Journal of medical genetics 1998;35(1):42-4.
1998: Hemminki A; Markie D; Tomlinson I; Avizienyte E; Roth S; Loukola A; Bignell G; Warren W; Aminoff M; Höglund P; Järvinen H; Kristo P; Pelin K; Ridanpää M; Salovaara R; Toro T; Bodmer W; Olschwang S; Olsen A S; Stratton M R; de la Chapelle A; Aaltonen L A
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.
Nature 1998;391(6663):184-7.
1998: Hemminki A; Avizienyte E; Roth S; Loukola A; Aaltonen L A; Järvinen H; de la Chapelle A
[A serine/threonine kinase gene defective in Peutz-Jeghers syndrome]
Duodecim; lääketieteellinen aikakauskirja 1998;114(7):667-8.
1998: 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 1998;12(3):218.
1998: Holmberg M; Kristo P; Chadwicks R B; Mecklin J P; Järvinen H; de la Chapelle A; Nyström-Lahti M; Peltomäki 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 1998;11(6):482.
1998: Höglund 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 1998;11(4):321-7.
1997: 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 1997;7(9):887-96.
1997: Pelin K; Ridanpää 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 1997;5(4):229-34.
1997: 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 1997;5(4):206-13.
1997: 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 1997;60(5):1139-49.
1997: Avela K; Lipsanen-Nyman M; Perheentupa J; Wallgren-Pettersson C; Marchand S; Fauré 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 1997;60(4):896-902.
1997: 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 1997;15(4):393-6.
1997: Wu Y; Nyström-Lahti M; Osinga J; Looman M W; Peltomäki 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 1997;18(4):269-78.
1997: Sulisalo T; Mäkitie O; Sistonen P; Ridanpää M; el-Rifai W; Ruuskanen O; de la Chapelle A; Kaitila I
Uniparental disomy in cartilage-hair hypoplasia.
European journal of human genetics : EJHG 1997;5(1):35-42.
1997: Hemminki A; Tomlinson I; Markie D; Järvinen H; Sistonen P; Björkqvist 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 1997;15(1):87-90.
1997: Peltomäki P; de la Chapelle A
Mutations predisposing to hereditary nonpolyposis colorectal cancer.
Advances in cancer research 1997;71():93-119.
1996: Moisio A L; Sistonen P; Weissenbach J; de la Chapelle A; Peltomäki P
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.
American journal of human genetics 1996;59(6):1243-51.
1996: 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 1996;7(9):883-5.
1996: Höglund 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 1996;14(3):316-9.
1996: Aittomäki K; Herva R; Stenman U H; Juntunen K; Ylöstalo 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 1996;81(10):3722-6.
1996: 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 1996;13(4):409-16.
1996: 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 1996;56(14):3331-7.
1996: Nyström-Lahti M; Wu Y; Moisio A L; Hofstra R M; Osinga J; Mecklin J P; Järvinen H J; Leisti J; Buys C H; de la Chapelle A; Peltomäki P
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.
Human molecular genetics 1996;5(6):763-9.
1996: Virtaneva K; Miao J; Träskelin 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 1996;58(6):1247-53.
1996: 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 1996;6(5):351-60.
1996: 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 1996;6(4):249-54.
1996: 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 1996;6(3):218-25.
1996: Höglund 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 1996;6(3):202-10.
1996: 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 (New York, N.Y.) 1996;271(5256):1731-4.
1996: Tahvanainen E; Forsius H; Kolehmainen J; Damsten M; Fellman J; de la Chapelle A
The genetics of cornea plana congenita.
Journal of medical genetics 1996;33(2):116-9.
1996: de la Chapelle A
[Is it possible to eradicate inherited polyposis coli in colorectal cancer by using genetic diagnosis]
Duodecim; lääketieteellinen aikakauskirja 1996;112(15):1365-8.
1996: de la Chapelle A
[Helicopter Science]
Duodecim; lääketieteellinen aikakauskirja 1996;112(14):1311-2.
1996: Aittomäki K; Tapanainen J; Huhtaniemi I; de la Chapelle A
[Inherited primary amenorrhea. The first gynecological disease of Finnish heritage]
Duodecim; lääketieteellinen aikakauskirja 1996;112(1):9-11.
1995: 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 1995;30(3):409-14.
1995: Salo P; Kääriäinen H; Petrovic V; Peltomäki P; Page D C; de la Chapelle A
Molecular mapping of the putative gonadoblastoma locus on the Y chromosome.
Genes, chromosomes & cancer 1995;14(3):210-4.
1995: Aminoff M; Tahvanainen E; Gräsbeck 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 1995;57(4):824-31.
1995: Aittomäki K; Lucena J L; Pakarinen P; Sistonen P; Tapanainen J; Gromoll J; Kaskikari R; Sankila E M; Lehväslaiho 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 1995;82(6):959-68.
1995: Höglund 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 1995;57(1):95-102.
1995: 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 1995;5(3):221-5.
1995: Salo P; Kääriäinen H; Page D C; de la Chapelle A
Deletion mapping of stature determinants on the long arm of the Y chromosome.
Human genetics 1995;95(3):283-6.
1995: 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 1995;26(2):290-3.
1995: 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 1995;95(2):157-60.
1995: Mäkitie O; Sulisalo T; de la Chapelle A; Kaitila I
Cartilage-hair hypoplasia.
Journal of medical genetics 1995;32(1):39-43.
1995: Sankila E M; Pakarinen L; Kääriäinen H; Aittomäki K; Karjalainen S; Sistonen P; de la Chapelle A
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.
Human molecular genetics 1995;4(1):93-8.
1995: de la Chapelle A; Peltomäki P
Genetics of hereditary colon cancer.
Annual review of genetics 1995;29():329-48.
1994: Hemminki A; Peltomäki P; Mecklin J P; Järvinen H; Salovaara R; Nyström-Lahti M; de la Chapelle A; Aaltonen L A
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer.
Nature genetics 1994;8(4):405-10.
1994: Sulisalo T; Klockars J; Mäkitie O; Francomano C A; de la Chapelle A; Kaitila I; Sistonen P
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.
American journal of human genetics 1994;55(5):937-45.
1994: Höglund P; Holmberg C; de la Chapelle A; Kere J
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.
American journal of human genetics 1994;55(4):747-52.
1994: Hästbacka J; de la Chapelle A; Mahtani M M; Clines G; Reeve-Daly M P; Daly M; Hamilton B A; Kusumi K; Trivedi B; Weaver A
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.
Cell 1994;78(6):1073-87.
1994: Tahvanainen E; Ranta S; Hirvasniemi A; Karila E; Leisti J; Sistonen P; Weissenbach J; Lehesjoki A E; de la Chapelle A
The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(15):7267-70.
1994: Nyström-Lahti M; Sistonen P; Mecklin J P; Pylkkänen L; Aaltonen L A; Järvinen H; Weissenbach J; de la Chapelle A; Peltomäki P
Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(13):6054-8.
1994: Lehesjoki A E; Tassinari C A; Avanzini G; Michelucci R; Franceschetti S; Antonelli A; Rubboli G; de la Chapelle A
PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus.
Human genetics 1994;93(6):668-74.
1994: Tahvanainen E; Norio R; Karila E; Ranta S; Weissenbach J; Sistonen P; de la Chapelle A
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.
Nature genetics 1994;7(2):201-4.
1994: Sulisalo T; Francomano C A; Sistonen P; Maher J F; McKusick V A; de la Chapelle A; Kaitila I
High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.
Genomics 1994;20(3):347-53.
1994: Boyd H; Kaste J; Hovi E; Ritanen-Mohammed U M; Kääriäinen H; de la Chapelle A; Lehesjoki A E
Familial pericentric inversion inv(8)(p23q11).
Journal of medical genetics 1994;31(3):201-5.
1994: Kere J; Estivill X; Chillón M; Morral N; Nunes V; Norio R; Savilahti E; de la Chapelle A
Cystic fibrosis in a low-incidence population: two major mutations in Finland.
Human genetics 1994;93(2):162-6.
1994: de la Chapelle A; Hästbacka J; Lehesjoki A E; Sulisalo T; Kere J; Tahvanainen E; Sistonen P
[Linkage and linkage disequilibrium in the Finnish disease heritage]
Duodecim; lääketieteellinen aikakauskirja 1994;110(7):654-64.
1994: Aaltonen L A; Sankila R; Mecklin J P; Järvinen H; Pukkala E; Peltomäki P; de la Chapelle A
A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden.
Cancer detection and prevention 1994;18(1):57-63.
1994: de la Chapelle A; Harper P; Kääriäinen H; Norio R
A European research conference on the inherited disorders and their genes in different European populations.
European journal of human genetics : EJHG 1994;2(3):191-2.
1993: Koskinen S; Onnelainen T; de la Chapelle A; Kere J
A rare reciprocal translocation (12;21) segregating for nine generations.
Human genetics 1993;92(5):509-12.
1993: Lehesjoki A E; Eldridge R; Eldridge J; Wilder B J; de la Chapelle A
Progressive myoclonus epilepsy of Unverricht-Lundborg type: a clinical and molecular genetic study of a family from the United States with four affected sibs.
Neurology 1993;43(11):2384-6.
1993: Kere J; Sistonen P; Holmberg C; de la Chapelle A
The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator.
Proceedings of the National Academy of Sciences of the United States of America 1993;90(22):10686-9.
1993: Sistonen P; Träskelin A L; Lehväslaiho H; de la Chapelle A
Genetic mapping of the erythropoietin receptor gene.
Human genetics 1993;92(3):299-301.
1993: de la Chapelle A
Disease gene mapping in isolated human populations: the example of Finland.
Journal of medical genetics 1993;30(10):857-65.
1993: Lehesjoki A E; Koskiniemi M; Norio R; Tirrito S; Sistonen P; Lander E; de la Chapelle A
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping.
Human molecular genetics 1993;2(8):1229-34.
1993: de la Chapelle A; Träskelin A L; Juvonen E
Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.
Proceedings of the National Academy of Sciences of the United States of America 1993;90(10):4495-9.
1993: Hästbacka J; Salonen R; Laurila P; de la Chapelle A; Kaitila I
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.
Journal of medical genetics 1993;30(4):265-8.
1993: Sulisalo T; Sistonen P; Hästbacka J; Wadelius C; Mäkitie O; de la Chapelle A; Kaitila I
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.
Nature genetics 1993;3(4):338-41.
1993: de la Chapelle A; Sistonen P; Lehväslaiho H; Ikkala E; Juvonen E
Familial erythrocytosis genetically linked to erythropoietin receptor gene.
Lancet 1993;341(8837):82-4.
1992: Peltomäki P; Lothe R A; Børresen A L; Fosså S D; Brøgger A; de la Chapelle A
Chromosome 12 in human testicular cancer: dosage changes and their parental origin.
Cancer genetics and cytogenetics 1992;64(1):21-6.
1992: Hästbacka J; de la Chapelle A; Kaitila I; Sistonen P; Weaver A; Lander E
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland.
Nature genetics 1992;2(3):204-11.
1992: de la Chapelle A; Tolvanen R; Boysen G; Santavy J; Bleeker-Wagemakers L; Maury C P; Kere J
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.
Nature genetics 1992;2(2):157-60.
1992: Solberg R; Sistonen P; Träskelin A L; Bérubé D; Simard J; Krajci P; Jahnsen T; de la Chapelle A
Mapping of the regulatory subunits RI beta and RII beta of cAMP-dependent protein kinase genes on human chromosome 7.
Genomics 1992;14(1):63-9.
1992: Maury C P; Kere J; Tolvanen R; de la Chapelle A
Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease.
Genomics 1992;13(3):902-3.
1992: de la Chapelle A; Kere J; Sack G H; Tolvanen R; Maury C P
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.
Genomics 1992;13(3):898-901.
1992: Sankila E M; Tolvanen R; van den Hurk J A; Cremers F P; de la Chapelle A
Aberrant splicing of the CHM gene is a significant cause of choroideremia.
Nature genetics 1992;1(2):109-13.
1991: Hästbacka J; Sistonen P; Kaitila I; Weiffenbach B; Kidd K K; de la Chapelle A
A linkage map spanning the locus for diastrophic dysplasia (DTD).
Genomics 1991;11(4):968-73.
1991: Peltomäki P; Sistonen P; Mecklin J P; Pylkkänen L; Järvinen H; Simons J W; Cho K R; Vogelstein B; de la Chapelle A
Evidence supporting exclusion of the DCC gene and a portion of chromosome 18q as the locus for susceptibility to hereditary nonpolyposis colorectal carcinoma in five kindreds.
Cancer research 1991;51(16):4135-40.
1991: Sankila E M; Sistonen P; Cremers F; de la Chapelle A
Choroideremia: linkage analysis with physically mapped close DNA-markers.
Human genetics 1991;87(3):348-52.
1991: Peltomäki P; Alfthan O; de la Chapelle A
Oncogenes in human testicular cancer: DNA and RNA studies.
British journal of cancer 1991;63(6):851-8.
1991: Kere J; Tolvanen R; Donis-Keller H; de la Chapelle A
Refinement of human chromosome 7 map around the pro alpha 2(I)collagen gene by long-range restriction mapping.
Nucleic acids research 1991;19(10):2755-9.
1991: Lehesjoki A E; Koskiniemi M; Sistonen P; Miao J; Hästbacka J; Norio R; de la Chapelle A
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(9):3696-9.
1991: Alitalo T; Kruse T A; Ahrens P; Albertsen H M; Eriksson A W; de la Chapelle A
Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region.
Human genetics 1991;86(6):599-603.
1991: Lehesjoki A E; Sistonen P; Rasi V; de la Chapelle A
Hemophilia A: genetic prediction and linkage studies in all available families in Finland.
Clinical genetics 1991;39(3):199-209.
1991: Alitalo T; Kruse T A; de la Chapelle A
Refined localization of the gene causing X-linked juvenile retinoschisis.
Genomics 1991;9(3):505-10.
1991: Peltomäki P; Lothe R; Børresen A L; Fosså S D; Brøgger A; de la Chapelle A
Altered dosage of the sex chromosomes in human testicular cancer: a molecular genetic study.
International journal of cancer. Journal international du cancer 1991;47(4):518-22.
1991: Alitalo T; Kruse T A; Forsius H; Eriksson A W; de la Chapelle A
Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.
American journal of human genetics 1991;48(1):31-8.
1991: Peltomäki P; Järvinen H; de la Chapelle A
[Early diagnosis and screening of colonic adenomatous polyposis]
Duodecim; lääketieteellinen aikakauskirja 1991;107(17):1405-9.
1990: Maury C P; Kere J; Tolvanen R; de la Chapelle A
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.
FEBS letters 1990;276(1-2):75-7.
1990: Hästbacka J; Kaitila I; Sistonen P; de la Chapelle A
Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(20):8056-9.
1990: Kere J; Savilahti E; Norio R; Estivill X; de la Chapelle A
Cystic fibrosis mutation delta F508 in Finland: other mutations predominate.
Human genetics 1990;85(4):413-5.
1990: Lehesjoki A E; Rasi V; de la Chapelle A
Hemophilia B: diagnostic value of RFLP analysis in 19 of the 20 known Finnish families.
Clinical genetics 1990;38(3):187-97.
1990: Peltomäki P; Halme A; de la Chapelle A
Human testicular cancer. Changes in autosomal dosage.
Cancer genetics and cytogenetics 1990;48(1):1-12.
1990: Sankila E M; Bruns G A; Schwartz M; Nikoskelainen E; Niebuhr E; Hodgson S V; Wright A F; de la Chapelle A
DXS26 (HU16) is located in Xq21.1.
Human genetics 1990;85(1):117-20.
1990: Lehesjoki A E; Sankila E M; Miao J; Somer M; Salonen R; Rapola J; de la Chapelle A
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.
Journal of medical genetics 1990;27(5):288-91.
1990: Page D C; Disteche C M; Simpson E M; de la Chapelle A; Andersson M; Alitalo T; Brown L G; Green P; Akots G
Chromosomal localization of ZFX--a human gene that escapes X inactivation--and its murine homologs.
Genomics 1990;7(1):37-46.
1990: Kääriäinen H; Lindlöf M; Somer H; de la Chapelle A
Genetic counselling in Duchenne and Becker muscular dystrophy is problematic when carrier studies give controversial results.
Clinical genetics 1990;37(3):179-87.
1990: de la Chapelle A; Hästbacka J; Korhonen T; Mäenpää J
The etiology of XX sex reversal.
Reproduction, nutrition, development 1990;Suppl 1():39s-49s.
1990: de la Chapelle A
[New genetics in medicine]
Duodecim; lääketieteellinen aikakauskirja 1990;106(8):609-16.
1989: Sankila E M; Lehner T; Eriksson A W; Forsius H; Kärnä J; Page D; Ott J; de la Chapelle A
Haplotype and multipoint linkage analysis in Finnish choroideremia families.
Human genetics 1989;84(1):66-70.
1989: Alitalo T; Kontula K; Koistinen R; Aalto-Setälä K; Julkunen M; Jänne O A; Seppälä M; de la Chapelle A
The gene encoding human low-molecular weight insulin-like growth-factor binding protein (IGF-BP25): regional localization to 7p12-p13 and description of a DNA polymorphism.
Human genetics 1989;83(4):335-8.
1989: Peltomäki P; Halme A; de la Chapelle A
Molecular studies of the sex chromosomes in human testicular cancer: pronounced changes in X and Y chromosome dosage in some tumors.
Genes, chromosomes & cancer 1989;1(1):42-7.
1989: Kere J; Norio R; Savilahti E; Estivill X; de la Chapelle A
Cystic fibrosis in Finland: a molecular and genealogical study.
Human genetics 1989;83(1):20-5.
1989: Keinänen M; Bloomfield C D; Machnicki J; Griffin J D; de la Chapelle A
Human bone marrow cytogenetics: growth factors stimulate metaphases for specific lineages.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 1989;3(6):405-12.
1989: Kere J; Ruutu T; Davies K A; Roninson I B; Watkins P C; Winqvist R; de la Chapelle A
Chromosome 7 long arm deletion in myeloid disorders: a narrow breakpoint region in 7q22 defined by molecular mapping.
Blood 1989;73(1):230-4.
1989: Kere J; Donis-Keller H; Ruutu T; de la Chapelle A
Chromosome 7 long-arm deletions in myeloid disorders: terminal DNA sequences are commonly conserved and breakpoints vary.
Cytogenetics and cell genetics 1989;50(4):226-9.
1989: Alitalo T; Willard H F; de la Chapelle A
Determination of the breakpoints of 1;7 translocations in myelodysplastic syndrome by in situ hybridization using chromosome-specific alpha satellite DNA from human chromosomes 1 and 7.
Cytogenetics and cell genetics 1989;50(1):49-53.
1988: Alitalo T; Forsius H; Kärnä J; Frants R R; Eriksson A W; Wood S; Kruse T A; de la Chapelle A
Linkage relationships and gene order around the locus for X-linked retinoschisis.
American journal of human genetics 1988;43(4):476-83.
1988: de la Chapelle A
The complicated issue of human sex determination.
American journal of human genetics 1988;43(1):1-3.
1988: Peltomäki P; Bianchi N O; Knuutila S; Teerenhovi L; Elonen E; Leskinen R; de la Chapelle A
Immunoglobulin kappa and lambda light chain dual genotype rearrangement in a patient with kappa-secreting B-CLL.
European journal of cancer & clinical oncology 1988;24(7):1233-8.
1988: Alitalo T; Tiihonen J; Hakola P; de la Chapelle A
Molecular characterization of a Y;15 translocation segregating in a family.
Human genetics 1988;79(1):29-35.
1988: Andersson M; Page D C; Pettay D; Subrt I; Turleau C; de Grouchy J; de la Chapelle A
Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11.
Human genetics 1988;79(1):2-7.
1988: Keinänen M; Griffin J D; Bloomfield C D; Machnicki J; de la Chapelle A
Clonal chromosomal abnormalities showing multiple-cell-lineage involvement in acute myeloid leukemia.
The New England journal of medicine 1988;318(18):1153-8.
1988: Andersson M; Page D C; Brown L G; Elfving K; de la Chapelle A
Characterization of a (Y;4) translocation by DNA hybridization.
Human genetics 1988;78(4):377-81.
1988: Kere J; Knuutila S; Ruutu T; Leskinen R; de la Chapelle A
Monocytic involvement by monosomy 7 preceded acute myelomonocytic leukemia in a patient with myelodysplastic syndrome.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 1988;2(2):69-73.
1988: Lindlöf M; Kääriäinen H; van Ommen G J; de la Chapelle A
Microdeletions in patients with X-linked muscular dystrophy: molecular-clinical correlations.
Clinical genetics 1988;33(2):131-9.
1988: Saviranta P; Lindlöf M; Lehesjoki A E; Kalimo H; Lang H; Sonninen V; Savontaus M L; de la Chapelle A
Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.
American journal of human genetics 1988;42(1):84-8.
1987: Page D C; Mosher R; Simpson E M; Fisher E M; Mardon G; Pollack J; McGillivray B; de la Chapelle A; Brown L G
The sex-determining region of the human Y chromosome encodes a finger protein.
Cell 1987;51(6):1091-104.
1987: Keskiaho L; Knuutila S; Pihko H; Nuutila A; Kaski U; Koivikko M; de la Chapelle A
The inheritance of fragile sites: apparent absence of fra(2)(q13) in the parents of three unrelated probands.
Journal of medical genetics 1987;24(11):678-83.
1987: de la Chapelle A; Lahtinen R
Monosomy 7 predisposes to diabetes insipidus in leukaemia and myelodysplastic syndrome.
European journal of haematology 1987;39(5):404-11.
1987: Page D C; Bieker K; Brown L G; Hinton S; Leppert M; Lalouel J M; Lathrop M; Nystrom-Lahti M; de la Chapelle A; White R
Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes.
Genomics 1987;1(3):243-56.
1987: Kere J; Ruutu T; Lahtinen R; de la Chapelle A
Molecular characterization of chromosome 7 long arm deletions in myeloid disorders.
Blood 1987;70(5):1349-53.
1987: Lindlöf M; Sistonen P; de la Chapelle A
Linked polymorphic DNA markers in the prediction of X-linked muscular dystrophy.
Annals of human genetics 1987;51(Pt 4):317-28.
1987: Lindlöf M; Kere J; Ristola M; Repo H; Leirisalo-Repo M; von Koskull H; Ammälä P; de la Chapelle A
Prenatal diagnosis of X-linked chronic granulomatous disease using restriction fragment length polymorphism analysis.
Genomics 1987;1(1):87-92.
1987: Alitalo T; Kärnä J; Forsius H; de la Chapelle A
X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85.
Clinical genetics 1987;32(3):192-5.
1987: Lakkala-Paranko T; Franssila K; Lappalainen K; Leskinen R; Knuutila S; de la Chapelle A; Bloomfield C D
Chromosome abnormalities in peripheral T-cell lymphoma.
British journal of haematology 1987;66(4):451-60.
1987: Sankila E M; de la Chapelle A; Kärnä J; Forsius H; Frants R; Eriksson A
Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence.
Clinical genetics 1987;31(5):315-22.
1987: Keinänen M; Knuutila S; Bloomfield C D; Elonen E; de la Chapelle A
Bone marrow cytogenetics: the lineage of dividing cells changes during the first few hours in culture.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 1987;1(1):32-7.
1987: de la Chapelle A
The Y-chromosomal and autosomal testis-determining genes.
Development (Cambridge, England) 1987;101 Suppl():33-8.
1986: Keinänen M; Knuutila S; Bloomfield C D; Elonen E; de la Chapelle A
The proportion of mitoses in different cell lineages changes during short-term culture of normal human bone marrow.
Blood 1986;67(5):1240-3.
1986: Knuutila S; Elonen E; Teerenhovi L; Rossi L; Leskinen R; Bloomfield C D; de la Chapelle A
Trisomy 12 in B cells of patients with B-cell chronic lymphocytic leukemia.
The New England journal of medicine 1986;314(14):865-9.
1985: Alitalo K; Saksela K; Winqvist R; Alitalo R; Keski-Oja J; Laiho M; Ilvonen M; Knuutila S; de la Chapelle A
Acute myelogenous leukaemia with c-myc amplification and double minute chromosomes.
Lancet 1985;2(8463):1035-9.
1985: Lindlöf M; Ammälä P; Somer H; Somer M; Simola K O; de la Chapelle A
[Diagnosis of Duchenne's muscular dystrophy using recombinant DNA technics]
Duodecim; lääketieteellinen aikakauskirja 1985;101(22):2184-91.

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