Results 71 to 80 of about 157,517 (293)
Penetrance rate estimation in autosomal dominant conditions
Genetics and Molecular Biology, 2012 Accurate estimates of the penetrance rate of autosomal dominant conditions are important, among other issues, for optimizing recurrence risks in genetic counseling. The present work on penetrance rate estimation from pedigree data considers the following
Paulo A. Otto, Andréa R.V.R. Horimoto
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Kidney Medicine, 2022 Rationale & Objective: Little is known about symptoms and disease impacts in adolescents with autosomal dominant polycystic kidney disease (ADPKD).
Dorothee Oberdhan +5 more
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Familial sinus node dysfunction with autosomal dominant inheritance. [PDF]
, 1978 H. Immo Lehmann, Ulrike Klein
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AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Pachyonychia congenita: A case report
Journal of Indian Academy of Oral Medicine and Radiology, 2019 Pachyonychia congenita (PC) is a rare autosomal dominant disorder of keratinization. It is usually present at birth or develops within 1 year of birth. It is classified into four types, but type-1 (Jadassohn–Lewandowsky type) and type-2 (Jackson–Lawler ...
Silpa Ramachandran +3 more
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Isolated growth hormone deficiency: Two families with autosomal dominant inheritance [PDF]
, 1974 E.M.E. Poskitt, P H Rayner
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala +8 more
wiley +1 more source
Hepatology, EarlyView., 2022 Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel +93 more
wiley +1 more source
Journal of Pharmacy and Bioallied Sciences, 2017 Marfan syndrome (MFS) is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1 in 10,000 individuals and equal distribution in both genders. The main clinical manifestation of this disorder consists of an
T Sivasankari +3 more
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