A
Albert de la Chapelle
Researcher at Ohio State University
Publications - 421
Citations - 68531
Albert de la Chapelle is an academic researcher from Ohio State University. The author has contributed to research in topics: Gene & Cancer. The author has an hindex of 109, co-authored 421 publications receiving 63666 citations. Previous affiliations of Albert de la Chapelle include Merck & Co. & University of Ulm.
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Journal ArticleDOI
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells
Erik L. Bao,Satish K. Nandakumar,Satish K. Nandakumar,Satish K. Nandakumar,Xiaotian Liao,Xiaotian Liao,Xiaotian Liao,Alexander G. Bick,Juha Karjalainen,Marcin Tabaka,Olga I. Gan,Olga I. Gan,Aki S. Havulinna,Tuomo Kiiskinen,Caleb A. Lareau,Aitzkoa Lopez de Lapuente Portilla,Bo Li,Bo Li,Connor A. Emdin,Connor A. Emdin,Veryan Codd,Veryan Codd,Christopher P. Nelson,Christopher P. Nelson,Christopher J. Walker,Claire Churchhouse,Albert de la Chapelle,Daryl E. Klein,Björn Nilsson,Björn Nilsson,Peter W.F. Wilson,Peter W.F. Wilson,Kelly Cho,Kelly Cho,Saiju Pyarajan,J. Michael Gaziano,J. Michael Gaziano,Nilesh J. Samani,Nilesh J. Samani,Aviv Regev,Aviv Regev,Aviv Regev,Aarno Palotie,Aarno Palotie,Benjamin M. Neale,John E. Dick,John E. Dick,Pradeep Natarajan,Pradeep Natarajan,Christopher J. O'Donnell,Mark J. Daly,Mark J. Daly,Michael Milyavsky,Sekar Kathiresan,Sekar Kathiresan,Vijay G. Sankaran +55 more
TL;DR: A large-scale genome-wide association study identifies 17 genetic loci that are associated with the risk of myeloproliferative neoplasms (MPNs), and shows that the modulation of haematopoietic stem cell function drives MPN risk.
Journal ArticleDOI
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis
Tuija Sulisalo,Pertti Sistonen,Johanna Hästbacka,Claes Wadelius,Outi Mäkitie,Albert de la Chapelle,Ilkka Kaitila,Ilkka Kaitila +7 more
TL;DR: The CHH gene is mapped by linkage analysis with 5 markers to chromosome 9 and no heterogeneity was observed in 14 Finnish families, nor was there evidence of reduced penetrance.
Journal ArticleDOI
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.
Stephan M. Tanner,Zhongyuan Li,James D. Perko,C. Öner,Mualla Cetin,Cigdem Altay,Zekiye Yurtsever,Karen L. David,Laurence Faivre,Essam A.R. Ismail,Ralph Gräsbeck,Albert de la Chapelle +11 more
TL;DR: In a series of families clinically diagnosed with likely IGS, at least six displayed no evidence of mutations in CUBN or AMN, and a region in chromosome 11 showed evidence of linkage in four families, meaning the disease should be classified as hereditary IF deficiency.
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Genetic Background of Congenital Chloride Diarrhea in High-Incidence Populations: Finland, Poland, and Saudi Arabia and Kuwait
Pia Höglund,Mari Auranen,Jerzy Socha,Kataryna Popinska,Hisham Nazer,Usha Rajaram,Abdullah Al Sanie,Mohammed Al-Ghanim,Christer Holmberg,Albert de la Chapelle,Juha Kere +10 more
TL;DR: It is confirmed that the same locus is mutated in all cases of CLD studied so far, and in Poland, a relatively common founder mutation is likely to highlight a set of rare mutations that would very rarely produce homozygosity alone, suggesting that mutations in the CLD locus are not rare events.
Journal ArticleDOI
The Frequency of an Inactivating Point Mutation (566C→T) of the Human Follicle-Stimulating Hormone Receptor Gene in Four Populations Using Allele-Specific Hybridization and Time-Resolved Fluorometry
Min Jiang,Kristiina Aittomäki,Christel Nilsson,Pirjo Pakarinen,Antti Iitiä,Toni Torresani,Henrik Simonsen,Victor H.H. Goh,Kim Pettersson,Albert de la Chapelle,Ilpo Huhtaniemi +10 more
TL;DR: The results suggest that the 566C-->T mutation of the FSHR gene is enriched in Finland, but is uncommon in other populations.