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Albert de La Chapelle

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Albert de La Chapelle
Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci.
Krystian Jazdzewski; Sandya Liyanarachchi; Michal Swierniak; Janusz Pachucki; Matthew D Ringel; Barbara Jarzab; Albert de La Chapelle
Polymorphic mature microRNAs from passenger strand of pre-miR-146a contribute to thyroid cancer.
Qinghua Zeng; Sharbani Phukan; Yanfei Xu; Maureen Sadim; Diana S Rosman; Michael Pennison; Jie Liao; Guang-Yu Yang; Chiang-Ching Huang; Laura Valle; Antonio Di Cristofano; Albert de La Chapelle; Boris Pasche
Tgfbr1 haploinsufficiency is a potent modifier of colorectal cancer development.

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All Publications

2009: Albert de La Chapelle
Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci.
Oncogene 2009;28(38):3345-8.
2009: Krystian Jazdzewski; Sandya Liyanarachchi; Michal Swierniak; Janusz Pachucki; Matthew D Ringel; Barbara Jarzab; Albert de La Chapelle
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: Qinghua Zeng; Sharbani Phukan; Yanfei Xu; Maureen Sadim; Diana S Rosman; Michael Pennison; Jie Liao; Guang-Yu Yang; Chiang-Ching Huang; Laura Valle; Antonio Di Cristofano; Albert de La Chapelle; Boris Pasche
Tgfbr1 haploinsufficiency is a potent modifier of colorectal cancer development.
Cancer research 2009;69(2):678-86.
2009: Huiling He; Rebecca Nagy; Sandya Liyanarachchi; Hong Jiao; Wei Li; Saul Suster; Juha Kere; Albert de La Chapelle
A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24.
Cancer research 2009;69(2):625-31.
2008: Heather Hampel; Wendy L Frankel; Edward Martin; Mark Arnold; Karamjit Khanduja; Philip Kuebler; Mark Clendenning; Kaisa Sotamaa; Thomas W Prior; Judith A Westman; Jenny Panescu; Dan Fix; Janet Lockman; Jennifer LaJeunesse; Ilene Comeras; Albert de La Chapelle
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: Laura Valle; Tarsicio Serena-Acedo; Sandya Liyanarachchi; Heather Hampel; Ilene Comeras; Zhongyuan Li; Qinghua Zeng; Hong-Tao Zhang; Michael J Pennison; Maureen Sadim; Boris Pasche; Stephan M Tanner; Albert de La Chapelle
Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer.
Science (New York, N.Y.) 2008;321(5894):1361-5.
2008: Leigha Senter; Mark Clendenning; Kaisa Sotamaa; Heather Hampel; Jane Green; John D Potter; Annika Lindblom; Kristina Lagerstedt; Stephen N Thibodeau; Noralane M Lindor; Joanne Young; Ingrid Winship; James G Dowty; Darren M White; John L Hopper; Laura Baglietto; Mark A Jenkins; Albert de La Chapelle
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Gastroenterology 2008;135(2):419-28.
2008: Christian Langer; Michael D Radmacher; Amy S Ruppert; Susan P Whitman; Peter Paschka; Krzysztof Mrózek; Claudia D Baldus; Tamara Vukosavljevic; Chang-gong liu; Mary Elizabeth Ross; Bayard L Powell; Albert de La Chapelle; Jonathan E Kolitz; Richard A Larson; Guido Marcucci; Clara D Bloomfield
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: Mark Clendenning; L Senter; Heather Hampel; K Lagerstedt Robinson; S Sun; D Buchanan; M D Walsh; Mef Nilbert; J Green; J Potter; Annika Lindblom; Albert de La Chapelle
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
Journal of medical genetics 2008;45(6):340-5.
2008: Krystian Jazdzewski; Elizabeth L Murray; Kaarle Franssila; Barbara Jarzab; Daniel R Schoenberg; Albert de La Chapelle
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: Henry T Lynch; Kristen Drescher; Albert de La Chapelle
Immunology and the Lynch syndrome.
Gastroenterology 2008;134(4):1246-9.
2008: Mark Clendenning; Mark E Baze; Shuying Sun; Kyle Walsh; Sandya Liyanarachchi; Daniel Fix; Victoria Schunemann; Ilene Comeras; Molly Deacon; Jane F Lynch; Gordon Gong; Brittany C Thomas; Stephen N Thibodeau; Henry T Lynch; Heather Hampel; Albert de La Chapelle
Origins and prevalence of the American Founder Mutation of MSH2.
Cancer research 2008;68(7):2145-53.
2008: Christopher D South; Heather Hampel; Ilene Comeras; Judith A Westman; Wendy L Frankel; Albert de La Chapelle
The frequency of Muir-Torre syndrome among Lynch syndrome families.
Journal of the National Cancer Institute 2008;100(4):277-81.
2007: Christoph Plass; John C Byrd; Aparna Raval; Stephan M Tanner; Albert de La Chapelle
Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genes.
British journal of haematology 2007;139(5):744-52.
2007: Heather Hampel; Jenny Panescu; Janet Lockman; Kaisa Sotamaa; Daniel Fix; Ilene Comeras; Jennifer LaJeunesse; Hidewaki Nakagawa; Judith A Westman; Thomas W Prior; Mark Clendenning; Albert de La Chapelle; Wendy Frankel; Pamela Penzone; David E Cohn; Larry Copeland; Lynne Eaton; Jeffrey Fowler; Janet Lombardi; Patti Dunn; Jeffrey Bell; Gary Reid; George Lewandowski; Luis Vaccarello
Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients.
Cancer research 2007;67(19):9603.
2007: Fabiola Quintero-Rivera; Natalia T Leach; Albert de La Chapelle; James Gusella; Cynthia C Morton; David J Harris
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: Aparna Raval; Stephan M Tanner; John C Byrd; Elizabeth B Angerman; James D Perko; shih-shih chen; Björn Hackanson; Michael R Grever; David M Lucas; Jennifer J Matkovic; Thomas S Lin; Thomas Kipps; Fiona Murray; Dennis D Weisenburger; Warren G Sanger; Jane Lynch; Patrice Watson; Mary Jansen; Yuko Yoshinaga; Richard Rosenquist; Pieter J de Jong; Penny Coggill; Stephan Beck; Henry Lynch; Albert de La Chapelle; Christoph Plass
Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.
Cell 2007;129(5):879-90.
2007: Reetta Jalkanen; N Torben Bech-Hansen; Rose Tobias; Eeva-Marja Sankila; Maija Mäntyjärvi; Henrik Forsius; Albert de La Chapelle; Tiina Alitalo
A novel CACNA1F gene mutation causes Aland Island eye disease.
Investigative ophthalmology & visual science 2007;48(6):2498-502.
2007: Huiping Chen; Nicholas P Taylor; Kaisa M Sotamaa; David G Mutch; Matthew A Powell; Amy P Schmidt; Sheng Feng; Heather L Hampel; Albert de La Chapelle; Paul J Goodfellow
Evidence for heritable predisposition to epigenetic silencing of MLH1.
International journal of cancer. Journal international du cancer 2007;120(8):1684-8.
2007: Vasily Vasko; Allan V Espinosa; William Scouten; Huiling He; Herbert Auer; Sandya Liyanarachchi; Alexandr Larin; Victoria Savchenko; Gary L Francis; Albert de La Chapelle; Motoyasu Saji; Matthew D Ringel
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: Petra Liskova; Pirro G Hysi; Denise Williams; John R Ainsworth; Sunil Shah; Albert de La Chapelle; Stephen J Tuft; Shomi S Bhattacharya
Study of p.N247S KERA mutation in a British family with cornea plana.
Molecular vision 2007;13():1339-47.
2006: Saara Ollila; Laura Sarantaus; Reetta Kariola; Philip Chan; Heather Hampel; Elke Holinski-Feder; Finlay Macrae; M R J Kohonen-Corish; Anne-Marie Gerdes; Päivi Peltomäki; Elisabeth Mangold; Albert de La Chapelle; Marc S Greenblatt; Minna Nyström
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Gastroenterology 2006;131(5):1408-17.
2006: Emmanuel E Zervos; Stephan M Tanner; Dana A Osborne; Mark Bloomston; Alexander S Rosemurgy; E Christopher Ellison; W Scott Melvin; Albert de La Chapelle
Differential gene expression in patients genetically predisposed to pancreatic cancer.
The Journal of surgical research 2006;135(2):317-22.
2006: Heather Hampel; Wendy Frankel; Jenny Panescu; Janet Lockman; Kaisa Sotamaa; Daniel Fix; Ilene Comeras; Jennifer La Jeunesse; Hidewaki Nakagawa; Judith A Westman; Thomas W Prior; Mark Clendenning; Pamela Penzone; Janet Lombardi; Patti Dunn; David E Cohn; Larry Copeland; Lynne Eaton; Jeffrey Fowler; George Lewandowski; Luis Vaccarello; Jeffrey Bell; Gary Reid; Albert de La Chapelle
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.
Cancer research 2006;66(15):7810-7.
2006: Martha Yearsley; Heather Hampel; Amy Lehman; Hidewaki Nakagawa; Albert de La Chapelle; Wendy L Frankel
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: Mark Clendenning; Heather Hampel; Jennifer LaJeunesse; Annika Lindblom; Janet Lockman; Mef Nilbert; Leigha Senter; Kaisa Sotamaa; Albert de La Chapelle
Long-range PCR facilitates the identification of PMS2-specific mutations.
Human mutation 2006;27(5):490-5.
2006: Henry T Lynch; C Richard Boland; Gordon Gong; Trudy G Shaw; Patrick M Lynch; Riccardo Fodde; Jane F Lynch; Albert de La Chapelle
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: Henry T Lynch; Albert de La Chapelle; Heather Hampel; Anja Wagner; Riccardo Fodde; Jane F Lynch; Ross Okimoto; Mary Beth Clark; Stephanie M Coronel; Abdon Trowonou; Yun-Xin Fu; Gleb Haynatzki; Gordon Gong
American founder mutation for Lynch syndrome. Prevalence estimates and implications.
Cancer 2006;106(2):448-52.
2005: Huiling He; Krystian Jazdzewski; Wei Li; Sandya Liyanarachchi; Rebecca Nagy; Stefano Volinia; George A Calin; Chang-gong liu; Kaarle Franssila; Saul Suster; Richard T Kloos; Carlo M Croce; Albert de La Chapelle
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: Guido Marcucci; Claudia D Baldus; Amy S Ruppert; Michael D Radmacher; Krzysztof Mrózek; Susan P Whitman; Jonathan E Kolitz; Colin G Edwards; James W Vardiman; Bayard L Powell; Maria R Baer; Joseph O Moore; Danilo Perrotti; Michael A Caligiuri; Andrew J Carroll; Richard A Larson; Albert de La Chapelle; Clara D Bloomfield
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: Boris Pasche; Thomas J Knobloch; Yansong Bian; Junjian Liu; Sharbani Phukan; Diana Rosman; Virginia G Kaklamani; Lisa Baddi; Farida S Siddiqui; Wendy Frankel; Thomas W Prior; David E Schuller; Amit Agrawal; Jas Lang; M Eileen Dolan; Everett E Vokes; William Stratton Lane; Chiang-Ching Huang; Trinidad Caldes; Antonio Di Cristofano; Heather Hampel; IngMarie Nilsson; Gunnar von Heijne; Riccardo Fodde; Vundavalli Murty; Albert de La Chapelle; Christopher M Weghorst
Somatic acquisition and signaling of TGFBR1*6A in cancer.
JAMA : the journal of the American Medical Association 2005;294(13):1634-46.
2005: Kaisa Sotamaa; Sandya Liyanarachchi; Jukka-Pekka Mecklin; Heikki Järvinen; Lauri A Aaltonen; Päivi Peltomäki; Albert de La Chapelle
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: Qianchuan He; Mette Madsen; Adam Kilkenney; Brittany L Gregory; Erik I Christensen; Henrik Vorum; Peter Højrup; Alejandro A Schäffer; Ewen F Kirkness; Stephan M Tanner; Albert de La Chapelle; Urs Giger; Søren K Moestrup; John C Fyfe
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: Tiina E Raevaara; Mari K Korhonen; Hannes Lohi; Heather Hampel; Elly Lynch; Karin E Lönnqvist; Elke Holinski-Feder; Christian Sutter; Wendy McKinnon; Sekhar Duraisamy; Anne-Marie Gerdes; Päivi Peltomäki; Maija Kohonen-Ccorish; Elisabeth Mangold; Finlay Macrae; Marc S Greenblatt; Albert de La Chapelle; Minna Nyström
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Gastroenterology 2005;129(2):537-49.
2005: Heather Hampel; Julie A Stephens; Eero Pukkala; Risto Sankila; Lauri A Aaltonen; Jukka-Pekka Mecklin; Albert de La Chapelle
Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.
Gastroenterology 2005;129(2):415-21.
2005: Huiling He; Katie Olesnanik; Rebecca Nagy; Sandya Liyanarachchi; Manju L Prasad; Constantine Straturis; Richard T Kloos; Albert de La Chapelle
Allelic variation in gene expression in thyroid tissue.
Thyroid : official journal of the American Thyroid Association 2005;15(7):660-7.
2005: Jamil R Al-Alami; Stephan M Tanner; Marwan K Tayeh; Albert de La Chapelle; Hatem El-Shanti
Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.
Saudi medical journal 2005;26(7):1061-4.
2005: Heather Hampel; Wendy L Frankel; Edward Martin; Mark Arnold; Karamjit Khanduja; Philip Kuebler; Hidewaki Nakagawa; Kaisa Sotamaa; Thomas W Prior; Judith A Westman; Jenny Panescu; Daniel Fix; Janet Lockman; Ilene Comeras; Albert de La Chapelle
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
The New England journal of medicine 2005;352(18):1851-60.
2005: Yansong Bian; Trinidad Caldes; Juul Wijnen; Patrick Franken; H F A Vasen; Virginia G Kaklamani; Khedoudja Nafa; Paolo Peterlongo; Nathan Ellis; John A Baron; John Burn; Gabriela Moeslein; Patrick J Morrison; Yu Chen; Habibul Ahsan; Patrice Watson; Henry T Lynch; Albert de La Chapelle; Riccardo Fodde; Boris Pasche
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: Anjali A Satoskar; Stephan M Tanner; Michael Weinstein; Stephen J Qualman; Albert de La Chapelle
Baalc, a marker of mesoderm and muscle.
Gene expression patterns : GEP 2005;5(4):463-73.
2005: Stephan M Tanner; Zhongyuan Li; James D Perko; Cihan Oner; Mualla Cetin; Cigdem Altay; Zekiye Yurtsever; Karen L David; Laurence Faivre; Essam A Ismail; Ralph Gustaf Grasbeck; Albert de La Chapelle
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: Albert de La Chapelle
The incidence of Lynch syndrome.
Familial cancer 2005;4(3):233-7.
2005: Manju L Prasad; Natalia S Pellegata; Ying Huang; Haikady N Nagaraja; Albert de La Chapelle; Richard T Kloos
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.
2004: Reetta Kariola; Heather Hampel; W L Frankel; Tiina E Raevaara; Albert de La Chapelle; Minna Nyström-Lahti
MSH6 missense mutations are often associated with no or low cancer susceptibility.
British journal of cancer 2004;91(7):1287-92.
2004: Albert de La Chapelle
Genetic predisposition to colorectal cancer.
Nature reviews. Cancer 2004;4(10):769-80.
2004: Hidewaki Nakagawa; Sandya Liyanarachchi; Ramana V Davuluri; Herbert Auer; Edward W Martin; Albert de La Chapelle; Wendy L Frankel
Role of cancer-associated stromal fibroblasts in metastatic colon cancer to the liver and their expression profiles.
Oncogene 2004;23(44):7366-77.
2004: Micheala A Aldred; Ying Huang; Sandya Liyanarachchi; Natalia S Pellegata; Oliver Gimm; Sissy M Jhiang; Ramana V Davuluri; Albert de La Chapelle; Charis Eng
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: Hidewaki Nakagawa; Janet Lockman; Wendy L Frankel; Heather Hampel; Kelle Steenblock; Lawrence J Burgart; Stephen N Thibodeau; Albert de La Chapelle
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: Manju L Prasad; Ying Huang; Natalia S Pellegata; Albert de La Chapelle; Richard T Kloos
Hashimoto's thyroiditis with papillary thyroid carcinoma (PTC)-like nuclear alterations express molecular markers of PTC.
Histopathology 2004;45(1):39-46.
2004: Stephan M Tanner; Zhongyuan Li; Ryan Bisson; Ceren Acar; Cihan Oner; Reyhan Oner; Mualla Cetin; Mohamed A Abdelaal; Essam A Ismail; Willy Lissens; Ralf Krahe; Harald Broch; Ralph Gustaf Grasbeck; Albert de La Chapelle
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: Claudia D Baldus; Sandya Liyanarachchi; Krzysztof Mrózek; Herbert Auer; Stephan M Tanner; Martin Guimond; Amy S Ruppert; Nehad Mohamed; Ramana V Davuluri; Michael A Caligiuri; Clara D Bloomfield; Albert de La Chapelle
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: Manju L Prasad; Natalia S Pellegata; Richard T Kloos; Catalin Barbacioru; Ying Huang; Albert de La Chapelle
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: John C Fyfe; Mette Madsen; Peter Højrup; Erik I Christensen; Stephan M Tanner; Albert de La Chapelle; Qianchuan He; Søren K Moestrup
The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.
Blood 2004;103(5):1573-9.
2004: Asad Umar; C Richard Boland; Jonathan P Terdiman; Sapna Syngal; Albert de La Chapelle; Josef Rüschoff; Richard Fishel; Noralane M Lindor; Lawrence J Burgart; Richard Hamelin; Stanley R Hamilton; Robert A Hiatt; Jeremy Jass; Annika Lindblom; Henry T Lynch; Paivi Peltomaki; Scott D Ramsey; Miguel A Rodriguez-Bigas; H F A Vasen; Ernest T Hawk; J Carl Barrett; Andrew N Freedman; sudhir srivastava
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: Henry T Lynch; Stephanie M Coronel; Ross Okimoto; Heather Hampel; Kevin Sweet; Jane F Lynch; Alicia Barrows; Juul Wijnen; Heleen van der Klift; Patrick Franken; Anja Wagner; Riccardo Fodde; Albert de La Chapelle
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: Claudia D Baldus; Stephan M Tanner; Donna F Kusewitt; Sandya Liyanarachchi; Changsun Choi; Michael A Caligiuri; Clara D Bloomfield; Albert de La Chapelle
BAALC, a novel marker of human hematopoietic progenitor cells.
Experimental hematology 2003;31(11):1051-6.
2003: Hidewaki Nakagawa; Heather Hampel; Albert de La Chapelle
Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques.
Human mutation 2003;22(3):258.
2003: Claudia D Baldus; Stephan M Tanner; Amy S Ruppert; Susan P Whitman; Kellie J Archer; Guido Marcucci; Michael A Caligiuri; Andrew J Carroll; James W Vardiman; Bayard L Powell; Steven Allen; Joseph O Moore; Richard A Larson; Jonathan E Kolitz; Albert de La Chapelle; Clara D Bloomfield
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: Albert de La Chapelle
Microsatellite instability.
The New England journal of medicine 2003;349(3):209-10.
2003: Juha Kolehmainen; Graeme C M Black; Anne Juvonen; Kate Chandler; Jill Clayton-Smith; Ann-Liz Träskelin; Rahat Perveen; Satu Kivitie-Kallio; Reijo Norio; Mette Warburg; Jean-Pierre Fryns; Albert de La Chapelle; Anna-Elina Lehesjoki
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: Ying Huang; Albert de La Chapelle; Natalia S Pellegata
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: Anja Wagner; Alicia Barrows; Juul Wijnen; Heleen van der Klift; Patrick F Franken; Paul Verkuijlen; Hidewaki Nakagawa; Marjan Geugien; Shantie Jaghmohan-Changur; Cor Breukel; Hanne Meijers-Heijboer; Hans Morreau; Marjo Van Puijenbroek; John Burn; Stephanie M Coronel; Yulia Kinarski; Ross Okimoto; Patrice Watson; Jane F Lynch; Albert de La Chapelle; Henry T Lynch; Riccardo Fodde
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: Henry T Lynch; Albert de La Chapelle
Hereditary colorectal cancer.
The New England journal of medicine 2003;348(10):919-32.
2003: Robert E Pyatt; Hidewaki Nakagawa; Heather Hampel; Mary S Sedra; M B Fuchik; Ilene Comeras; Albert de La Chapelle; Thomas W Prior
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: Stephan M Tanner; Maria Aminoff; Fred A Wright; Sandya Liyanarachchi; Mervi Kuronen; Anne Juvonen; Orit Massika; Hanna Mandel; Harald Broch; Albert de La Chapelle
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.
Nature genetics 2003;33(3):426-9.
2003: Albert de La Chapelle
2002 William Allan Award Address. Inherited human diseases: victories, challenges, disappointments.
American journal of human genetics 2003;72(2):236-40.
2002: Heejei Yoon; Sandya Liyanarachchi; Fred A Wright; Ramana V Davuluri; Janet Lockman; Albert de La Chapelle; Natalia S Pellegata
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: Hidewaki Nakagawa; Hai Yan; Janet Lockman; Heather Hampel; Kenneth W Kinzler; Bert Vogelstein; Albert de La Chapelle
Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements.
Cancer research 2002;62(16):4579-82.
2002: Xiao-Ping Zhou; Anu Loukola; Reijo Salovaara; Minna Nystrom-Lahti; Päivi Peltomäki; Albert de La Chapelle; Lauri A Aaltonen; Charis Eng
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: Krisztina Wutz; Christian Sauer; Eberhart Zrenner; Birgit Lorenz; Tiina Alitalo; Martina Broghammer; Martin Hergersberg; Albert de La Chapelle; Bernhard H F Weber; Bernd Wissinger; Alfons Meindl; Carsten M Pusch
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: Albert de La Chapelle
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: Ying Huang; M Prasad; William J Lemon; Heather Hampel; Fred A Wright; Karl Kornacker; Virginia A LiVolsi; Wendy Frankel; Richard T Kloos; Charis Eng; Natalia S Pellegata; Albert de La Chapelle
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: Anders Nykjaer; John C Fyfe; Renata Kozyraki; Jörg R Leheste; Christian Jacobsen; Morten S Nielsen; Pierre J Verroust; Maria Aminoff; Albert de La Chapelle; Søren K Moestrup; R Ray; Jørgen Gliemann; Thomas E Willnow; Erik I Christensen
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: Stephan M Tanner; J L Austin; Gustavo Leone; Laura J Rush; Christoph Plass; Kristiina Heinonen; Krzysztof Mrózek; H Sill; S Knuutila; Jonathan E Kolitz; Kellie J Archer; Michael A Caligiuri; Clara D Bloomfield; Albert de La Chapelle
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: Hidewaki Nakagawa; Gerard J Nuovo; Emmanuel E Zervos; Edward W Martin; Reijo Salovaara; Lauri A Aaltonen; Albert de La Chapelle
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: Tarja Joensuu; Riikka H Hämäläinen; B Yuan; C Johnson; Saara Tegelberg; P Gasparini; L Zelante; Ulla Pirvola; L Pakarinen; Anna-Elina Lehesjoki; Albert de La Chapelle; Eeva-Marja Sankila
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
American journal of human genetics 2001;69(4):673-84.
2001: Arthur H M Burghes; Harald Vaessin; Albert de La Chapelle
Genetics. The land between Mendelian and multifactorial inheritance.
Science (New York, N.Y.) 2001;293(5538):2213-4.
2001: RB Chadwick; Robert E Pyatt; Theodore H Niemann; S K Richards; CK Johnson; MW Stevens; JE Meek; Heather Hampel; Thomas W Prior; Albert de La Chapelle
Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma.
Journal of medical genetics 2001;38(7):461-6.
2001: Matthew D Mailman; T Hemingway; R L Darsey; C E Glasure; Y Huang; R B Chadwick; John W Heinz; Audrey C Papp; Pamela J Snyder; Mary S Sedra; R W Schafer; D N Abuelo; E W Reich; Karl S Theil; Arthur H M Burghes; Albert de La Chapelle; Thomas W Prior
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: Kimmo Virtaneva; Fred A Wright; Stephan M Tanner; B Yuan; William J Lemon; Michael A Caligiuri; Clara D Bloomfield; Albert de La Chapelle; Ralf Krahe
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: Maaret Ridanpää; H van Eenennaam; Katarina Pelin; R Chadwick; C Johnson; B Yuan; W vanVenrooij; G Pruijn; R Salmela; Susanna Rockas; Outi Mäkitie; Ilkka Kaitila; Albert de La Chapelle
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
Cell 2001;104(2):195-203.
2001: Hidewaki Nakagawa; RB Chadwick; Paivi Peltomaki; Christoph Plass; Y Nakamura; Albert de La Chapelle
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: Charis Eng; Heather Hampel; Albert de La Chapelle
Genetic testing for cancer predisposition.
Annual review of medicine 2001;52():371-400.
2000: RB Chadwick; JE Meek; Thomas W Prior; Paivi Peltomaki; Albert de La Chapelle
Polymorphisms in a pseudogene highly homologous to PMS2.
Human mutation 2000;16(6):530.
2000: Darius C Desai; Janet Lockman; RB Chadwick; X Gao; Antonio Percesepe; D G Evans; M Miyaki; S T Yuen; P Radice; E R Maher; Fred A Wright; Albert de La Chapelle
Recurrent germline mutation in MSH2 arises frequently de novo.
Journal of medical genetics 2000;37(9):646-52.
2000: M Kristiansen; Maria Aminoff; Christian Jacobsen; Albert de La Chapelle; Ralf Krahe; Pierre J Verroust; Søren K Moestrup
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: Reijo Salovaara; Anu Loukola; Paula Kristo; Helena Kääriäinen; H Ahtola; Matti Eskelinen; N Härkönen; Risto Julkunen; E Kangas; S Ojala; J Tulikoura; E Valkamo; Heikki Järvinen; Jukka-Pekka Mecklin; Lauri A Aaltonen; Albert de La Chapelle
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: Sirpa Ranta; Y Zhang; Barbara Ross; E Takkunen; Aune Hirvasniemi; Albert de La Chapelle; T Conrad Gilliam; Anna-Elina Lehesjoki
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: Natalia S Pellegata; JL Dieguez-Lucena; T Joensuu; S Lau; K T Montgomery; Ralf Krahe; T Kivelä; R Kucherlapati; H Forsius; Albert de La Chapelle
Mutations in KERA, encoding keratocan, cause cornea plana.
Nature genetics 2000;25(1):91-5.
2000: Shannon Kuismanen; MT Holmberg; Reijo Salovaara; Albert de La Chapelle; Päivi Peltomäki
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: Heikki J Järvinen; Markku T Aarnio; Harri Mustonen; Katja Aktan-Collan; Lauri A Aaltonen; Päivi Peltomäki; Albert de La Chapelle; Jukka-Pekka Mecklin
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer.
Gastroenterology 2000;118(5):829-34.
2000: RB Chadwick; G L Jiang; G A Bennington; B Yuan; CK Johnson; MW Stevens; Theodore H Niemann; Paivi Peltomaki; Shouxiong Huang; Albert de La Chapelle
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: Clement Adebamowo; OA Adeyi; Robert E Pyatt; Thomas W Prior; RB Chadwick; Albert de La Chapelle
Case report on hereditary non-polyposis colon cancer (HNPCC) in Nigeria.
African journal of medicine and medical sciences 2000;29(1):71-3.
2000: C P J Maury; Mikko Liljeström; G Boysen; T Törnroth; Albert de La Chapelle; EL Nurmiaho-Lassila
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: Tarja Joensuu; Riikka H Hämäläinen; Anna-Elina Lehesjoki; Albert de La Chapelle; Eeva-Marja Sankila
A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q.
Genomics 2000;63(3):409-16.
2000: Katja Aktan-Collan; Jukka-Pekka Mecklin; Albert de La Chapelle; Päivi Peltomäki; Antti Uutela; Helena Kääriäinen
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: Katja Aktan-Collan; Jukka-Pekka Mecklin; Heikki Järvinen; Minna Nyström-Lahti; Päivi Peltomäki; I Söderling; Antti Uutela; Albert de La Chapelle; Helena Kääriäinen
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: Carina Wallgren-Pettersson; Katarina Pelin; P Hilpelä; Kristian Donner; Berardino Porfirio; Claudio Graziano; Kathryn J Swoboda; M Fardeau; J Andoni Urtizberea; Francesco Muntoni; Caroline Sewry; Victor Dubowitz; Susan T Iannaccone; C Minetti; M Pedemonte; Marco Seri; Roberto Cusano; M Lammens; A Castagna-Sloane; Alan H Beggs; Nigel G Laing; Albert de La Chapelle
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.
Neuromuscular disorders : NMD 1999;9(8):564-72.
1999: Anu Loukola; Reijo Salovaara; Paula Kristo; Anu-Liisa Moisio; Helena Kääriäinen; H Ahtola; Matti Eskelinen; N Härkönen; Risto Julkunen; E Kangas; S Ojala; J Tulikoura; E Valkamo; Heikki Järvinen; Jukka-Pekka Mecklin; Albert de La Chapelle; Lauri A Aaltonen
Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer.
The American journal of pathology 1999;155(6):1849-53.
1999: Minna Nyström-Lahti; MT Holmberg; P Fidalgo; Reijo Salovaara; Albert de La Chapelle; Josef Jiricny; Päivi Peltomäki
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: Laura Huopaniemi; Johan Fellman; Anne Rantala; Aldur Eriksson; Henrik Forsius; Albert de La Chapelle; Tiina Alitalo
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: Anu Loukola; Albert de La Chapelle; Lauri A Aaltonen
Strategies for screening for hereditary non-polyposis colorectal cancer.
Journal of medical genetics 1999;36(11):819-22.
1999: Henry T Lynch; Albert de La Chapelle
Genetic susceptibility to non-polyposis colorectal cancer.
Journal of medical genetics 1999;36(11):801-18.
1999: Shannon Kuismanen; MT Holmberg; Reijo Salovaara; Pascal Schweizer; Lauri A Aaltonen; Albert de La Chapelle; Minna Nyström-Lahti; Päivi Peltomäki
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: Sirpa Ranta; Y Zhang; Barbara Ross; Liina Lonka; E Takkunen; A Messer; J Sharp; R Wheeler; K Kusumi; Sara E Mole; W Liu; M B Soares; M F Bonaldo; Aune Hirvasniemi; Albert de La Chapelle; T Conrad Gilliam; Anna-Elina Lehesjoki
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: Johanna Hästbacka; A Kerrebrock; K Mokkala; GA Clines; M Lovett; Ilkka Kaitila; Albert de La Chapelle; Eric S Lander
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
European journal of human genetics : EJHG 1999;7(6):664-70.
1999: Robert E Pyatt; RB Chadwick; CK Johnson; Clement Adebamowo; Albert de La Chapelle; Thomas W Prior
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: Renata Kozyraki; John C Fyfe; M Kristiansen; C Gerdes; Christian Jacobsen; S Cui; Erik I Christensen; Maria Aminoff; Albert de La Chapelle; Ralf Krahe; Pierre J Verroust; Søren K Moestrup
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: Albert de La Chapelle
Testing tumors for microsatellite instability.
European journal of human genetics : EJHG 1999;7(4):407-8.
1999: Markku T Aarnio; Risto Sankila; Eero Pukkala; Reijo Salovaara; Lauri A Aaltonen; Albert de La Chapelle; Päivi Peltomäki; Jukka-Pekka Mecklin; Heikki J Järvinen
Cancer risk in mutation carriers of DNA-mismatch-repair genes.
International journal of cancer. Journal international du cancer 1999;81(2):214-8.
1999: Laura Huopaniemi; Anne Rantala; Henrik Forsius; Mirja Somer; Albert de La Chapelle; Tiina Alitalo
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: Katarina Pelin; P Hilpelä; Kristian Donner; Caroline Sewry; P Anthony Akkari; Stephen D Wilton; Duangrurdee Wattanasirichaigoon; Marie-Louise Bang; T Centner; F Hanefeld; S Odent; M Fardeau; J Andoni Urtizberea; Francesco Muntoni; Victor Dubowitz; Alan H Beggs; Nigel G Laing; Siegfried Labeit; Albert de La Chapelle; Carina Wallgren-Pettersson
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: Maria Aminoff; J E Carter; R B Chadwick; C Johnson; Ralph Gustaf Grasbeck; Mohamed A Abdelaal; Harald Broch; L B Jenner; Pierre J Verroust; Søren K Moestrup; Albert de La Chapelle; Ralf Krahe
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
Nature genetics 1999;21(3):309-13.
1999: P Paavola; Kristiina Avela; Nina Horelli-Kuitunen; Maarit Bärlund; Anne Kallioniemi; N Idänheimo; M Kyttälä; Albert de La Chapelle; Aarno Palotie; Anna-Elina Lehesjoki; Leena Peltonen
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: Pia Höglund; Christer Holmberg; S Haila; Albert de La Chapelle; Juha Kere
[Congenital chloride diarrhea gene error in the anion transporter protein].
Duodecim; lääketieteellinen aikakauskirja 1999;115(17):1833-41.
1999: Bru Cormand; Kristiina Avela; Helena Pihko; Pirkko Santavuori; Beril Talim; Haluk Topaloglu; Albert de La Chapelle; Anna-Elina Lehesjoki
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: Richard H Moseley; Pia Höglund; Gary D Wu; Debra G Silberg; S Haila; Albert de La Chapelle; Christer Holmberg; Juha Kere
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: Thomas W Prior; R B Chadwick; Audrey C Papp; A N Arcot; A M Isa; Dennis K Pearl; G Stemmermann; Antonio Percesepe; Anu Loukola; Lauri A Aaltonen; Albert de La Chapelle
The I1307K polymorphism of the APC gene in colorectal cancer.
Gastroenterology 1999;116(1):58-63.
1998: Albert de La Chapelle; Fred A Wright
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: Pia Höglund; Mari Auranen; J Socha; K Popinska; H Nazer; U Rajaram; A Al Sanie; M Al-Ghanim; Christer Holmberg; Albert de La Chapelle; Juha Kere
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: Antonio Percesepe; Paula Kristo; Lauri A Aaltonen; Maurizio Ponz de Leon; Albert de La Chapelle; Päivi Peltomäki
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: S Haila; Pia Höglund; S W Scherer; J R Lee; Paula Kristo; Beth Coyle; Richard C Trembath; Christer Holmberg; Albert de La Chapelle; Juha Kere
Genomic structure of the human congenital chloride diarrhea (CLD) gene.
Gene 1998;214(1-2):87-93.
1998: Albert de La Chapelle; P Peltomäki
The genetics of hereditary common cancers.
Current opinion in genetics & development 1998;8(3):298-303.
1998: Lauri A Aaltonen; Reijo Salovaara; Paula Kristo; F Canzian; Akseli Hemminki; Päivi Peltomäki; R B Chadwick; Helena Kääriäinen; Matti Eskelinen; Heikki Järvinen; Jukka-Pekka Mecklin; Albert de La Chapelle
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: Sirpa Ala-Mello; Eeva-Marja Sankila; Olli Koskimies; Albert de La Chapelle; Helena Kääriäinen
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: Akseli Hemminki; D Markie; Ian Tomlinson; E Avizienyte; S Roth; Anu Loukola; Graham R Bignell; William Warren; M Aminoff; Pia Höglund; Heikki Järvinen; Paula Kristo; Katarina Pelin; Maaret Ridanpää; Reijo Salovaara; T Toro; Walter Bodmer; S Olschwang; A S Olsen; Michael R Stratton; Albert de La Chapelle; Lauri A Aaltonen
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.
Nature 1998;391(6663):184-7.
1998: Akseli Hemminki; E Avizienyte; S Roth; Anu Loukola; Lauri A Aaltonen; Heikki Järvinen; Albert de La Chapelle
[A serine/threonine kinase gene defective in Peutz-Jeghers syndrome].
Duodecim; lääketieteellinen aikakauskirja 1998;114(7):667-8.
1998: Kimmo Virtaneva; L Paulin; Ralf Krahe; Albert de La Chapelle; Anna-Elina Lehesjoki
The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online.
Human mutation 1998;12(3):218.
1998: MT Holmberg; Paula Kristo; R B Chadwicks; Jukka-Pekka Mecklin; Heikki Järvinen; Albert de La Chapelle; Minna Nyström-Lahti; Päivi Peltomäki
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: Pia Höglund; S Haila; K H Gustavson; Mikko Taipale; Katariina Hannula; K Popinska; Christer Holmberg; J Socha; Albert de La Chapelle; Juha Kere
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.
Human mutation 1998;11(4):321-7.
1998: S Olschwang; D Markie; Sheila Seal; Kay Neale; Robin Phillips; SE Cottrell; I Ellis; Shirley Hodgson; P Zauber; A Spigelman; T Iwama; S Loff; C McKeown; C Marchese; J Sampson; S Davies; Ian C Talbot; J Wyke; G Thomas; Walter Bodmer; Akseli Hemminki; E Avizienyte; Albert de La Chapelle; L Aaltonen; Ian Tomlinson
Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.
Journal of medical genetics 1998;35(1):42-4.
1997: Sirpa Ranta; Anna-Elina Lehesjoki; M De Fatima Bonaldo; James A Knowles; Aune Hirvasniemi; Barbara Ross; P J de Jong; MB Soares; Albert de La Chapelle; T Conrad Gilliam
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: Katarina Pelin; Maaret Ridanpää; Kristian Donner; Stephen D Wilton; J Krishnarajah; Nigel Laing; B Kolmerer; S Millevoi; Siegfried Labeit; Albert de La Chapelle; C Wallgren-Petterson
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: Juha Kolehmainen; Reijo Norio; Satu Kivitie-Kallio; Esa Tahvanainen; Albert de La Chapelle; Anna-Elina Lehesjoki
Refined mapping of the Cohen syndrome gene by linkage disequilibrium.
European journal of human genetics : EJHG 1997;5(4):206-13.
1997: Laura Huopaniemi; Anne Rantala; Esa Tahvanainen; Albert de La Chapelle; Tiina Alitalo
Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis.
American journal of human genetics 1997;60(5):1139-49.
1997: Kristiina Avela; Marita Lipsanen-Nyman; Jaakko Perheentupa; Carina Wallgren-Pettersson; Sylvie Marchand; S Fauré; Pertti Sistonen; Albert de La Chapelle; Anna-Elina Lehesjoki
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: Kimmo Virtaneva; Elena D'Amato; J Miao; Marjaleena Koskiniemi; Reijo Norio; G Avanzini; S Franceschetti; Roberto Michelucci; Carlo Alberto Tassinari; S Omer; L A Pennacchio; Richard Myers; JL Dieguez-Lucena; Ralf Krahe; Albert de La Chapelle; Anna-Elina Lehesjoki
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.
Nature genetics 1997;15(4):393-6.
1997: Ying Wu; Minna Nyström-Lahti; Jan Osinga; M W G Looman; Päivi Peltomäki; Lauri A Aaltonen; Albert de La Chapelle; Robert M W Hofstra; Charles H C M Buys
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: T Sulisalo; Outi Mäkitie; Pertti Sistonen; Maaret Ridanpää; Wa'el El-Rifai; O Ruuskanen; Albert de La Chapelle; Ilkka Kaitila
Uniparental disomy in cartilage-hair hypoplasia.
European journal of human genetics : EJHG 1997;5(1):35-42.
1997: Päivi Peltomäki; Albert de La Chapelle
Mutations predisposing to hereditary nonpolyposis colorectal cancer.
Advances in cancer research 1997;71():93-119.
1997: Akseli Hemminki; Ian Tomlinson; D Markie; Heikki Järvinen; Pertti Sistonen; AM Björkqvist; Sakari Knuutila; Reijo Salovaara; Walter Bodmer; D Shibata; Albert de La Chapelle; Lauri A Aaltonen
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.
1996: Anu-Liisa Moisio; Pertti Sistonen; J Weissenbach; Albert de La Chapelle; Päivi Peltomäki
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.
American journal of human genetics 1996;59(6):1243-51.
1996: Albert de La Chapelle
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: Pia Höglund; S Haila; J Socha; L Tomaszewski; Ulpu Saarialho-Kere; Marja-Liisa Karjalainen-Lindsberg; Karri Airola; Christer Holmberg; Albert de La Chapelle; Juha Kere
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.
Nature genetics 1996;14(3):316-9.
1996: Kristiina Aittomäki; R Herva; Ulf-Hakan Stenman; Katri S Juntunen; P Ylöstalo; Outi Hovatta; Albert de La Chapelle
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: Juha Kere; Anand K Srivastava; O Montonen; Jonathan (Jon) Zonana; N Thomas; Betsy M Ferguson; F Munoz; D Morgan; A Clarke; P Baybayan; E Y Chen; S Ezer; Ulpu Saarialho-Kere; Albert de La Chapelle; David Schlessinger
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
Nature genetics 1996;13(4):409-16.
1996: F Canzian; Reijo Salovaara; Akseli Hemminki; Paula Kristo; R B Chadwick; Lauri A Aaltonen; Albert de La Chapelle
Semiautomated assessment of loss of heterozygosity and replication error in tumors.
Cancer research 1996;56(14):3331-7.
1996: Minna Nyström-Lahti; Y Wu; Anu-Liisa Moisio; Robert M W Hofstra; Jan Osinga; Jukka-Pekka Mecklin; Heikki J Järvinen; Jaakko Leisti; Charles H C M Buys; Albert de La Chapelle; Päivi Peltomäki
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: Kimmo Virtaneva; J Miao; A L Träskelin; N Stone; J A Warrington; J Weissenbach; Richard Myers; D R Cox; Pertti Sistonen; Albert de La Chapelle
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: Sirpa Ranta; Anna-Elina Lehesjoki; Aune Hirvasniemi; J Weissenbach; B Ross; S M Leal; Albert de La Chapelle; T Conrad Gilliam
Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.
Genome research 1996;6(5):351-60.
1996: Esa Tahvanainen; A S Villanueva; Henrik Forsius; P Salo; Albert de La Chapelle
Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12.
Genome research 1996;6(4):249-54.
1996: L A Pennacchio; Anna-Elina Lehesjoki; N E Stone; Virginia L Willour; Kimmo Virtaneva; J Miao; E D'Amato; L Ramirez; M Faham; Marjaleena Koskiniemi; J A Warrington; Reijo Norio; Albert de La Chapelle; D R Cox; Richard Myers
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
Science (New York, N.Y.) 1996;271(5256):1731-4.
1996: N E Stone; Jian-Bing Fan; Virginia L Willour; L A Pennacchio; J A Warrington; A Hu; Albert de La Chapelle; Anna-Elina Lehesjoki; D R Cox; Richard Myers
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: Pia Höglund; S Haila; Stephen W Scherer; Lap-Chee Tsui; Eric Green; J Weissenbach; Christer Holmberg; Albert de La Chapelle; Juha Kere
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: Esa Tahvanainen; Henrik Forsius; J Kolehmainen; M Damsten; Johan Fellman; Albert de La Chapelle
The genetics of cornea plana congenita.
Journal of medical genetics 1996;33(2):116-9.
1996: Albert de La Chapelle
[Is it possible to eradicate inherited polyposis coli in colorectal cancer by using genetic diagnosis].
Duodecim; lääketieteellinen aikakauskirja 1996;112(15):1365-8.
1996: Albert de La Chapelle
[Helicopter Science].
Duodecim; lääketieteellinen aikakauskirja 1996;112(14):1311-2.
1996: Kristiina Aittomäki; Juha S Tapanainen; Ilpo Huhtaniemi; Albert de La Chapelle
[Inherited primary amenorrhea. The first gynecological disease of Finnish heritage].
Duodecim; lääketieteellinen aikakauskirja 1996;112(1):9-11.
1995: Esa Tahvanainen; Henrik Forsius; M Damsten; E Karila; J Kolehmainen; J Weissenbach; Pertti Sistonen; Albert de La Chapelle
Linkage disequilibrium mapping of the cornea plana congenita gene CNA2.
Genomics 1995;30(3):409-14.
1995: P Salo; Helena Kääriäinen; V Petrovic; Päivi Peltomäki; D C Page; Albert de La Chapelle
Molecular mapping of the putative gonadoblastoma locus on the Y chromosome.
Genes, chromosomes & cancer 1995;14(3):210-4.
1995: M Aminoff; Esa Tahvanainen; Ralph Gustaf Grasbeck; J Weissenbach; H Broch; Albert de La Chapelle
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: Kristiina Aittomäki; J L Lucena; Pirjo Pakarinen; Pertti Sistonen; Juha S Tapanainen; J Gromoll; R Kaskikari; Eeva-Marja Sankila; H Lehväslaiho; A R Engel; E Nieschlag; Ilpo Huhtaniemi; Albert de La Chapelle
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.
Cell 1995;82(6):959-68.
1995: Pia Höglund; Pertti Sistonen; Reijo Norio; Christer Holmberg; A Dimberg; Karl-Henrik Gustavson; Albert de La Chapelle; Juha Kere
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium.
American journal of human genetics 1995;57(1):95-102.
1995: Sirpa Ranta; Helena Pihko; Pirkko Santavuori; Esa Tahvanainen; Albert de La Chapelle
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.
Neuromuscular disorders : NMD 1995;5(3):221-5.
1995: Esa Tahvanainen; Henrik Forsius; E Karila; Sirpa Ranta; M Eerola; J Weissenbach; Pertti Sistonen; Albert de La Chapelle
Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis.
Genomics 1995;26(2):290-3.
1995: P Salo; Helena Kääriäinen; D C Page; Albert de La Chapelle
Deletion mapping of stature determinants on the long arm of the Y chromosome.
Human genetics 1995;95(3):283-6.
1995: T Sulisalo; I van der Burgt; D L Rimoin; J Bonaventure; D Sillence; J B Campbell; D Chitayat; C I Scott; Albert de La Chapelle; Pertti Sistonen
Genetic homogeneity of cartilage-hair hypoplasia.
Human genetics 1995;95(2):157-60.
1995: Albert de La Chapelle; Päivi Peltomäki
Genetics of hereditary colon cancer.
Annual review of genetics 1995;29():329-48.
1995: Outi Mäkitie; T Sulisalo; Albert de La Chapelle; Ilkka Kaitila
Cartilage-hair hypoplasia.
Journal of medical genetics 1995;32(1):39-43.
1995: Eeva-Marja Sankila; L Pakarinen; Helena Kääriäinen; Kristiina Aittomäki; S Karjalainen; Pertti Sistonen; Albert de La Chapelle
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.
Human molecular genetics 1995;4(1):93-8.
1994: Akseli Hemminki; Päivi Peltomäki; Jukka-Pekka Mecklin; Heikki Järvinen; Reijo Salovaara; Minna Nyström-Lahti; Albert de La Chapelle; Lauri A Aaltonen
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer.
Nature genetics 1994;8(4):405-10.
1994: T Sulisalo; J Klockars; Outi Mäkitie; Clair A Francomano; Albert de La Chapelle; Ilkka Kaitila; Pertti Sistonen
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.
American journal of human genetics 1994;55(5):937-45.
1994: Pia Höglund; Christer Holmberg; Albert de La Chapelle; Juha Kere
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: J Hästbacka; Albert de La Chapelle; Melanie M Mahtani; GA Clines; Mary Reeve; Mark J Daly; B A Hamilton; K Kusumi; B Trivedi; A Weaver
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.
Cell 1994;78(6):1073-87.
1994: Esa Tahvanainen; Sirpa Ranta; Aune Hirvasniemi; E Karila; Jaakko Leisti; Pertti Sistonen; J Weissenbach; Anna-Elina Lehesjoki; Albert de La Chapelle
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: Minna Nyström-Lahti; Pertti Sistonen; Jukka-Pekka Mecklin; Liisa Pylkkänen; Lauri A Aaltonen; Heikki Järvinen; J Weissenbach; Albert de La Chapelle; Päivi Peltomäki
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: Anna-Elina Lehesjoki; Carlo Alberto Tassinari; G Avanzini; Roberto Michelucci; S Franceschetti; A Antonelli; Guido Rubboli; Albert de La Chapelle
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: Esa Tahvanainen; Reijo Norio; E Karila; Sirpa Ranta; J Weissenbach; Pertti Sistonen; Albert de La Chapelle
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.
Nature genetics 1994;7(2):201-4.
1994: T Sulisalo; Clair A Francomano; Pertti Sistonen; J F Maher; Victor A McKusick; Albert de La Chapelle; Ilkka Kaitila
High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.
Genomics 1994;20(3):347-53.
1994: H Boyd; J Kaste; E Hovi; U M Ritanen-Mohammed; Helena Kääriäinen; Albert de La Chapelle; Anna-Elina Lehesjoki
Familial pericentric inversion inv(8)(p23q11).
Journal of medical genetics 1994;31(3):201-5.
1994: Juha Kere; Xavier Estivill; M Chillón; N Morral; Virginia Nunes; Reijo Norio; E Savilahti; Albert de La Chapelle
Cystic fibrosis in a low-incidence population: two major mutations in Finland.
Human genetics 1994;93(2):162-6.
1994: Albert de La Chapelle; J Hästbacka; Anna-Elina Lehesjoki; T Sulisalo; J Kere; Esa Tahvanainen; Pertti Sistonen
[Linkage and linkage disequilibrium in the Finnish disease heritage].
Duodecim; lääketieteellinen aikakauskirja 1994;110(7):654-64.
1994: Lauri A Aaltonen; Risto Sankila; Jukka-Pekka Mecklin; Heikki Järvinen; Eero Pukkala; Päivi Peltomäki; Albert de La Chapelle
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: Albert de La Chapelle; P Harper; Helena Kääriäinen; Reijo Norio
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: Juha Kere; Pertti Sistonen; Christer Holmberg; Albert de La Chapelle
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: S Koskinen; T Onnelainen; Albert de La Chapelle; Juha Kere
A rare reciprocal translocation (12;21) segregating for nine generations.
Human genetics 1993;92(5):509-12.
1993: Anna-Elina Lehesjoki; R Eldridge; J Eldridge; B J Wilder; Albert de La Chapelle
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: Pertti Sistonen; A L Träskelin; H Lehväslaiho; Albert de La Chapelle
Genetic mapping of the erythropoietin receptor gene.
Human genetics 1993;92(3):299-301.
1993: Albert de La Chapelle
Disease gene mapping in isolated human populations: the example of Finland.
Journal of medical genetics 1993;30(10):857-65.
1993: Anna-Elina Lehesjoki; Marjaleena Koskiniemi; Reijo Norio; S Tirrito; Pertti Sistonen; Eric S Lander; Albert de La Chapelle
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: Albert de La Chapelle; A L Träskelin; E Juvonen
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: J Hästbacka; R Salonen; P Laurila; Albert de La Chapelle; Ilkka Kaitila
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.
Journal of medical genetics 1993;30(4):265-8.
1993: T Sulisalo; Pertti Sistonen; J Hästbacka; Claes Wadelius; Outi Mäkitie; Albert de La Chapelle; Ilkka Kaitila
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.
Nature genetics 1993;3(4):338-41.
1993: Albert de La Chapelle; Pertti Sistonen; H Lehväslaiho; E Ikkala; E Juvonen
Familial erythrocytosis genetically linked to erythropoietin receptor gene.
Lancet 1993;341(8837):82-4.
1992: Päivi Peltomäki; Ragnhild A Lothe; A L Børresen; S D Fosså; A Brøgger; Albert de La Chapelle
Chromosome 12 in human testicular cancer: dosage changes and their parental origin.
Cancer genetics and cytogenetics 1992;64(1):21-6.
1992: J Hästbacka; Albert de La Chapelle; Ilkka Kaitila; Pertti Sistonen; A Weaver; Eric S Lander
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland.
Nature genetics 1992;2(3):204-11.
1992: Albert de La Chapelle; R Tolvanen; G Boysen; J Santavy; L Bleeker-Wagemakers; C P J Maury; Juha Kere
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.
Nature genetics 1992;2(2):157-60.
1992: Rigmor Solberg; Pertti Sistonen; A L Träskelin; D Bérubé; Jacques Simard; Peter Krajci; Tore Jahnsen; Albert de La Chapelle
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: C P J Maury; Juha Kere; R Tolvanen; Albert de La Chapelle
Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease.
Genomics 1992;13(3):902-3.
1992: Albert de La Chapelle; Juha Kere; GEORGE SACK; R Tolvanen; C P J Maury
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: Eeva-Marja Sankila; R Tolvanen; José A J M van den Hurk; Frans P M Cremers; Albert de La Chapelle
Aberrant splicing of the CHM gene is a significant cause of choroideremia.
Nature genetics 1992;1(2):109-13.
1991: J Hästbacka; Pertti Sistonen; Ilkka Kaitila; B Weiffenbach; Kenneth K Kidd; Albert de La Chapelle
A linkage map spanning the locus for diastrophic dysplasia (DTD).
Genomics 1991;11(4):968-73.
1991: Päivi Peltomäki; Pertti Sistonen; Jukka-Pekka Mecklin; Liisa Pylkkänen; Heikki Järvinen; J W Simons; Kathleen R Cho; Bert Vogelstein; Albert de La Chapelle
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: Eeva-Marja Sankila; Pertti Sistonen; Frans P M Cremers; Albert de La Chapelle
Choroideremia: linkage analysis with physically mapped close DNA-markers.
Human genetics 1991;87(3):348-52.
1991: Päivi Peltomäki; O Alfthan; Albert de La Chapelle
Oncogenes in human testicular cancer: DNA and RNA studies.
British journal of cancer 1991;63(6):851-8.
1991: Juha Kere; R Tolvanen; H Donis-Keller; Albert de La Chapelle
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: Anna-Elina Lehesjoki; Marjaleena Koskiniemi; Pertti Sistonen; J Miao; J Hästbacka; Reijo Norio; Albert de La Chapelle
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: Tiina Alitalo; T A Kruse; P Ahrens; H M Albertsen; Aldur W Eriksson; Albert de La Chapelle
Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region.
Human genetics 1991;86(6):599-603.
1991: Anna-Elina Lehesjoki; Pertti Sistonen; Vesa Rasi; Albert de La Chapelle
Hemophilia A: genetic prediction and linkage studies in all available families in Finland.
Clinical genetics 1991;39(3):199-209.
1991: Tiina Alitalo; T A Kruse; Albert de La Chapelle
Refined localization of the gene causing X-linked juvenile retinoschisis.
Genomics 1991;9(3):505-10.
1991: Päivi Peltomäki; Ragnhild A Lothe; A L Børresen; S D Fosså; A Brøgger; Albert de La Chapelle
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: Tiina Alitalo; T A Kruse; Henrik Forsius; Aldur W Eriksson; Albert de La Chapelle
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: Päivi Peltomäki; H Järvinen; Albert de La Chapelle
[Early diagnosis and screening of colonic adenomatous polyposis].
Duodecim; lääketieteellinen aikakauskirja 1991;107(17):1405-9.
1990: C P J Maury; Juha Kere; R Tolvanen; Albert de La Chapelle
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.
FEBS letters 1990;276(1-2):75-7.
1990: J Hästbacka; Ilkka Kaitila; Pertti Sistonen; Albert de La Chapelle
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: Juha Kere; E Savilahti; Reijo Norio; Xavier Estivill; Albert de La Chapelle
Cystic fibrosis mutation delta F508 in Finland: other mutations predominate.
Human genetics 1990;85(4):413-5.
1990: Anna-Elina Lehesjoki; Vesa Rasi; Albert de La Chapelle
Hemophilia B: diagnostic value of RFLP analysis in 19 of the 20 known Finnish families.
Clinical genetics 1990;38(3):187-97.
1990: Päivi Peltomäki; A Halme; Albert de La Chapelle
Human testicular cancer. Changes in autosomal dosage.
Cancer genetics and cytogenetics 1990;48(1):1-12.
1990: Eeva-Marja Sankila; G A Bruns; M Schwartz; Eeva Nikoskelainen; E Niebuhr; S V Hodgson; A F Wright; Albert de La Chapelle
DXS26 (HU16) is located in Xq21.1.
Human genetics 1990;85(1):117-20.
1990: Anna-Elina Lehesjoki; Eeva-Marja Sankila; J Miao; Mirja Somer; R Salonen; Juhani Rapola; Albert de La Chapelle
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: David C Page; Christine M Disteche; E M Simpson; Albert de La Chapelle; M Andersson; T Alitalo; Laura G Brown; P Green; G Akots
Chromosomal localization of ZFX--a human gene that escapes X inactivation--and its murine homologs.
Genomics 1990;7(1):37-46.
1990: Helena Kääriäinen; M Lindlöf; Hannu Somer; Albert de La Chapelle
Genetic counselling in Duchenne and Becker muscular dystrophy is problematic when carrier studies give controversial results.
Clinical genetics 1990;37(3):179-87.
1990: Albert de La Chapelle; J Hästbacka; T Korhonen; J Mäenpää
The etiology of XX sex reversal.
Reproduction, nutrition, development 1990;Suppl 1():39s-49s.
1990: Albert de La Chapelle
[New genetics in medicine].
Duodecim; lääketieteellinen aikakauskirja 1990;106(8):609-16.
1989: Eeva-Marja Sankila; T Lehner; Aldur W Eriksson; Henrik Forsius; J Kärnä; D Page; J Ott; Albert de La Chapelle
Haplotype and multipoint linkage analysis in Finnish choroideremia families.
Human genetics 1989;84(1):66-70.
1989: Tiina Alitalo; Kimmo Kontula; Riitta Koistinen; K Aalto-Setälä; M Julkunen; Olli A Jänne; Markku Seppala; Albert de La Chapelle
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: Päivi Peltomäki; A Halme; Albert de La Chapelle
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: Juha Kere; Reijo Norio; E Savilahti; Xavier Estivill; Albert de La Chapelle
Cystic fibrosis in Finland: a molecular and genealogical study.
Human genetics 1989;83(1):20-5.
1989: M Keinänen; C D Bloomfield; J Machnicki; James D Griffin; Albert de La Chapelle
Human bone marrow cytogenetics: growth factors stimulate metaphases for specific lineages.
Leukemia 1989;3(6):405-12.
1989: Juha Kere; H Donis-Keller; Tapani Ruutu; Albert de La Chapelle
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: Tiina Alitalo; Huntington F Willard; Albert de La Chapelle
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.
1989: Juha Kere; Tapani Ruutu; K A Davies; I B Roninson; P C Watkins; R Winqvist; Albert de La Chapelle
Chromosome 7 long arm deletion in myeloid disorders: a narrow breakpoint region in 7q22 defined by molecular mapping.
Blood 1989;73(1):230-4.
1988: Tiina Alitalo; Henrik Forsius; J Kärnä; R R Frants; Aldur W Eriksson; S Wood; T A Kruse; Albert de La Chapelle
Linkage relationships and gene order around the locus for X-linked retinoschisis.
American journal of human genetics 1988;43(4):476-83.
1988: Albert de La Chapelle
The complicated issue of human sex determination.
American journal of human genetics 1988;43(1):1-3.
1988: Päivi Peltomäki; N O Bianchi; Sakari Knuutila; Lasse Teerenhovi; Erkki Elonen; R Leskinen; Albert de La Chapelle
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: M Keinänen; James D Griffin; C D Bloomfield; J Machnicki; Albert de La Chapelle
Clonal chromosomal abnormalities showing multiple-cell-lineage involvement in acute myeloid leukemia.
The New England journal of medicine 1988;318(18):1153-8.
1988: Tiina Alitalo; Jari Tiihonen; P Hakola; Albert de La Chapelle
Molecular characterization of a Y;15 translocation segregating in a family.
Human genetics 1988;79(1):29-35.
1988: Magnus Andersson; D C Page; D Pettay; I Subrt; C Turleau; J de Grouchy; Albert de La Chapelle
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: Magnus Andersson; D C Page; L G Brown; K Elfving; Albert de La Chapelle
Characterization of a (Y;4) translocation by DNA hybridization.
Human genetics 1988;78(4):377-81.
1988: Juha Kere; Sakari Knuutila; Tapani Ruutu; R Leskinen; Albert de La Chapelle
Monocytic involvement by monosomy 7 preceded acute myelomonocytic leukemia in a patient with myelodysplastic syndrome.
Leukemia 1988;2(2):69-73.
1988: M Lindlöf; Helena Kääriäinen; Gert-Jan B van Ommen; Albert de La Chapelle
Microdeletions in patients with X-linked muscular dystrophy: molecular-clinical correlations.
Clinical genetics 1988;33(2):131-9.
1988: Petri Saviranta; M Lindlöf; Anna-Elina Lehesjoki; Hannu Kalimo; H Lang; V Sonninen; Marja-Liisa Savontaus; Albert de La Chapelle
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: David C Page; R Mosher; E M Simpson; Elizabeth M C Fisher; G Mardon; J Pollack; B McGillivray; Albert de La Chapelle; Laura G Brown
The sex-determining region of the human Y chromosome encodes a finger protein.
Cell 1987;51(6):1091-104.
1987: L Keskiaho; Sakari Knuutila; Helena Pihko; A Nuutila; U Kaski; M Koivikko; Albert de La Chapelle
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: Albert de La Chapelle; R Lahtinen
Monosomy 7 predisposes to diabetes insipidus in leukaemia and myelodysplastic syndrome.
European journal of haematology 1987;39(5):404-11.
1987: David C Page; K Bieker; Laura G Brown; S Hinton; M Leppert; J M Lalouel; M Lathrop; M Nystrom-Lahti; Albert de La Chapelle; Raymond White
Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes.
Genomics 1987;1(3):243-56.
1987: Juha Kere; Tapani Ruutu; R Lahtinen; Albert de La Chapelle
Molecular characterization of chromosome 7 long arm deletions in myeloid disorders.
Blood 1987;70(5):1349-53.
1987: M Lindlöf; Pertti Sistonen; Albert de La Chapelle
Linked polymorphic DNA markers in the prediction of X-linked muscular dystrophy.
Annals of human genetics 1987;51(Pt 4):317-28.
1987: M Lindlöf; Juha Kere; Matti Ristola; Heikki Repo; Marjatta Leirisalo-Repo; Harriet von Koskull; P Ammälä; Albert de La Chapelle
Prenatal diagnosis of X-linked chronic granulomatous disease using restriction fragment length polymorphism analysis.
Genomics 1987;1(1):87-92.
1987: Tiina Alitalo; J Kärnä; Henrik Forsius; Albert de La Chapelle
X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85.
Clinical genetics 1987;32(3):192-5.
1987: T Lakkala-Paranko; Kaarle Franssila; K Lappalainen; R Leskinen; Sakari Knuutila; Albert de La Chapelle; C D Bloomfield
Chromosome abnormalities in peripheral T-cell lymphoma.
British journal of haematology 1987;66(4):451-60.
1987: Eeva-Marja Sankila; Albert de La Chapelle; J Kärnä; Henrik Forsius; R Frants; A Eriksson
Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence.
Clinical genetics 1987;31(5):315-22.
1987: M Keinänen; Sakari Knuutila; C D Bloomfield; Erkki Elonen; Albert de La Chapelle
Bone marrow cytogenetics: the lineage of dividing cells changes during the first few hours in culture.
Leukemia 1987;1(1):32-7.
1987: Albert de La Chapelle
The Y-chromosomal and autosomal testis-determining genes.
Development (Cambridge, England) 1987;101 Suppl():33-8.
1986: M Keinänen; Sakari Knuutila; C D Bloomfield; Erkki Elonen; Albert de La Chapelle
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: Sakari Knuutila; Erkki Elonen; Lasse Teerenhovi; L Rossi; R Leskinen; C D Bloomfield; Albert de La Chapelle
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: Kari Alitalo; K Saksela; R Winqvist; R Alitalo; Jorma Keski-Oja; M Laiho; M Ilvonen; Sakari Knuutila; Albert de La Chapelle
Acute myelogenous leukaemia with c-myc amplification and double minute chromosomes.
Lancet 1985;2(8463):1035-9.
1985: M Lindlöf; P Ammälä; Hannu Somer; Mirja Somer; K O Simola; Albert de La Chapelle
[Diagnosis of Duchenne's muscular dystrophy using recombinant DNA technics].
Duodecim; lääketieteellinen aikakauskirja 1985;101(22):2184-91.