Results 311 to 320 of about 554,004 (364)

Genetic and phenotypic profile of 112 patients with X‐linked Charcot–Marie–Tooth disease type 1

European Journal of Neurology, 2018
Background and purposeX‐linked Charcot–Marie–Tooth disease type 1 (CMTX1), caused by mutations in gap junction protein beta 1 (GJB1), is characterized by various central nervous system symptoms and gender differences of clinical severity. The aim of this study was to identify the frequency and mutation spectrum of CMTX1 patients in Japan and to ...
J.‐H. Yuan, Y. Sakiyama, A. Hashiguchi, M. Ando, Y. Okamoto, A. Yoshimura, Y. Higuchi, H. Takashima   +7 more
openaire   +2 more sources

X-linked lymphoproliferative disease: genetics and biochemistry.

Reviews in immunogenetics, 2001
Primary immunodeficiencies comprise a broad group of disorders due to germline mutations in genes regulating lymphocyte development and function. One of these genes, DSHP (also known as SH2D1A, SAP), is mutated in X-linked lymphoproliferative syndrome (XLP), an inherited immunodeficiency characterized by increased susceptibility to primary Epstein-Barr
openaire   +1 more source

Data from electronic healthcare records expand our understanding of X‐linked genetic diseases

American Journal of Medical Genetics Part A
AbstractDisease specific cohort studies have reported details on X linked (XL) disorders affecting females. We investigated the spectrum and penetrance of XL disorders seen in electronic health records (EHR). We generated a cohort of individuals diagnosed with XL disorders at Vanderbilt University Medical Center over 20 years.
Rory J. Tinker, Lisa Bastarache, Kimberly Ezell, Serena M. Neumann, Yutaka Furuta, Karee A. Morgan, John A. Phillips   +6 more
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Two kindred with x-linked recessive tuberculous mycobacterial disease: towards a genetic theory of infectious diseases

Pathology, 2010
The observation that only a small fraction of individuals infected by infectious agents develop clinical disease raises fundamental questions about the actual pathogenesis of infectious diseases. Epidemiological and experimental evidence is accumulating to suggest that human genetics plays a major role in this process.
openaire   +1 more source

[Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019
To detect mutation of NDP gene in a pedigree affected with Norrie disease.Sanger sequencing was used to analyze the NDP gene at Xp11.3. Prenatal diagnosis was performed on amniotic fluid sample after the causative gene was detected.Sanger sequencing has revealed a c.2T>C (p.M1T) missense mutation of the NDP gene in the proband and the fetus.
Xinmiao, Yang, Wenwen, Li, Xueping, Shen, Huifen, Shao, Guosong, Shen   +4 more
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Genetic testing in prostate cancer management: Considerations informing primary care

Ca-A Cancer Journal for Clinicians, 2022
Veda N Giri, Todd M Morgan, Jacob E Berchuck   +2 more
exaly  

Non-invasive pre-implantation genetic diagnosis of X-linked disorders.

Medical Hypotheses, 2014
S. Assou, O. Aït‐Ahmed, S. El Messaoudi, A. Thierry, S. Hamamah   +4 more
semanticscholar   +1 more source

[Clinical and genetic analysis of a Chinese family affected with X-linked Charcot-Marie-Tooth disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2014
To study the clinical manifestations and identify causative mutations for a Chinese family affected with X-linked Charcot-Marie-Tooth disease.Clinical, electrophysiological and pathological features of the family were carefully analyzed by neurologists. Blood samples were obtained from the proband and other family members.
Yapei, Feng, Lin, Li, Xiao, Li, Guilong, Wang, Jiangxia, Li, Qiji, Liu   +5 more
openaire   +1 more source

KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.

European Journal of Medical Genetics, 2014
Thainá Fernandez Gonçalves, A. P. Gonçalves, Natalia Fintelman Rodrigues, J. M. dos Santos, M. M. Pimentel, C. Santos-Rebouças   +5 more
semanticscholar   +1 more source

Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3.

Ophthalmology (Rochester, Minn.), 1990
R. Lewis, R. Nussbaum, D. Stambolian
semanticscholar   +1 more source