Results 301 to 310 of about 1,280,706 (342)

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. [PDF]

Orphanet J Rare Dis
Liu Y, Ma X, Chen Z, He R, Zhang Y, Dong H, Ma Y, Wu T, Wang Q, Ding Y, Li X, Li D, Song J, Li M, Jin Y, Qin J, Yang Y.   +16 more
europepmc   +1 more source

Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases.

Dis Model Mech
Matsell E, Andersen JP, Molday RS.
europepmc   +1 more source

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Genetics of Alzheimer’s disease

Essays in Biochemistry, 1998
Mutations in any one of three genes can cause autosomal dominant, early-onset Alzheimer's disease: these genes are the amyloid precursor protein (APP) gene on chromosome 21, the presenilin-1 (PS-1) gene on chromosome 14 and the presenilin-2 (PS-2) gene on chromosome 1.
John Hardy, Mike Hutton, Jordi Pérez-Tur   +2 more
openaire   +3 more sources

The genetics of complex diseases

Trends in Cell Biology, 1999
Genetic factors influence virtually every human disorder, determining disease susceptibility or resistance and interactions with environmental factors. Our recent successes in the genetic mapping and identification of the molecular basis of mendelian traits have been remarkable.
Glenys Thomson, Michael S. Esposito
openaire   +3 more sources

Genetics of celiac disease

Best Practice & Research Clinical Gastroenterology, 2015
New insights into the underlying molecular pathophysiology of celiac disease (CeD) over the last few years have been guided by major advances in the fields of genetics and genomics. The development and use of the Immunochip genotyping platform paved the way for the discovery of 39 non-HLA loci associated to CeD, and for follow-up functional genomics ...
Isis Ricaño-Ponce, Cisca Wijmenga, Javier Gutierrez-Achury   +2 more
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Genetics of Dupuytren's disease

Joint Bone Spine, 2012
Dupuytren's disease (DD) is a progressive fibrosis of the palmar fascia characterized by the formation of a nodule, which evolves into a cord. DD is the most common hereditary disease of the connective tissue preferentially affecting Caucasoids originating from Northern Europe.
Michou, Laëtitia, Lermusiaux, Jean-Luc, Teyssedou, Jean-Pierre, Bardin, Thomas, Beaudreuil, Johann, Petit-Teixeira, Elisabeth   +5 more
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The Variability of Genetic Disease

New England Journal of Medicine, 2012
It is never boring to be a physician because patients are so different. Each patient has a story to tell, and few have disorders that match textbook descriptions. By the same token, we need to be careful when predicting the future for our patients, and finding the appropriate therapy is often a matter of trial and error as much as science and protocol.
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Genetics of disease

Current Opinion in Genetics & Development, 1996
David J. Weatherall, Andrew O.M. Wilkie
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Genetics of disease

Current Opinion in Genetics & Development, 1997
PeterN Goodfellow, Giovanna Camerino
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