Results 111 to 120 of about 207,744 (307)
The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation
, 2002 Mutations in the photopigment rhodopsin are the major cause of autosomal dominant retinitis pigmentosa. The majority of mutations in rhodopsin lead to misfolding of the protein.
Munro, PMG +3 more
core
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Clinical manifestation of autosomal dominant hyper-IgE syndrome with associated autism
Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare inborn error of immunity that affects multiple organs and presents a wide array of clinical features.
Adrianna Muciek +2 more
core +1 more source
Estudo clínico e molecular da doença renal policística autossômica dominante em duas famílias [PDF]
, 2000 Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde.Objetivos: Verificar a associação de variáveis clínicas para insuficiência renal crônica e a origem da mutação gênica em duas famílias portadoras de Doença Renal
Dias, Tânia Lúcia Viana
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, 2018 Laia Sans-Atxer,1 Dominique Joly2 1Department of Nephrology, Hospital del Mar, Institut Mar for Medical Research, Barcelona, Spain; 2Faculty of Medicine, Université Paris-Descartes, Assistance Publique-Hôpitaux de Paris, Service de Né ...
Joly D +5 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
Journal of Osteoporosis, 2011 Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen ...
I. Mouna Ben Amor +2 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain +6 more
wiley +1 more source
, 2011 Introduction: The genetics of the most common neurological disorders, including epilepsy, with mendelian inheritance has been dissected in the last twenty years. However the genetic etiology of some rare epileptic conditions is still unknown.
Coppola, Antonietta
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source