Results 71 to 80 of about 28,399 (219)

Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN

Molecular Genetics & Genomic Medicine
Background Congenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. Variants in RAPSN are a common cause of CMS, accounting for approximately 14%–27% of all CMS cases.
Zhiping Zhang, Xueluo Zhang, Huiqin Xue, Liming Chu, Lina Hu, Xingyu Bi, Pengfei Zhu, Dongdong Zhang, Jiayao Chen, Xiangrong Cui, Lingyin Kong, Bo Liang, Xueqing Wu   +12 more
doaj   +1 more source

Detection of Gene Localization in a Large Concomitant Strabismus Family

Türk Oftalmoloji Dergisi, 2013
Purpose: To define the gene locus related with concomitant strabismus in a large exotropia family. Material and Method: A three-generation family including 31 individuals among which 17 members had basic exotropia and 3 members had intermittent ...
Kadriye Erkan Turan, Emin Cumhur Şener, Ali Şefik Sanaç   +2 more
doaj   +1 more source

Haplotype association analysis.

, 2013
Haplotype association analysis illustrating z-Normalized AFQT scores among different genotype carriers pre-injury, Phase II and Phase III. Haplotype 6 SNPs (A) include all the SNPs in LD.
Mårten Risling (339954), David Goldman (52224), Elham Rostami (339949), Colin A. Hodgkinson (52219), Matteo Pardini (339953), Olga Dal Monte (339951), Frank Krueger (259142), Jordan Grafman (23293), Serguei Zoubak (339950), Vanessa Raymont (339952)   +9 more
core   +1 more source

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, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Locality, geographic and haplotype information for samples used in CO1 haplotype analysis including haplotype distribution and diversity statistics.

, 2019
Locality, geographic and haplotype information for samples used in CO1 haplotype analysis including haplotype distribution and diversity statistics.
Dwayne D. Hegedus (1945678), Owen O. Olfert (6890129), Tara D. Gariepy (3278070), Jennifer Holowachuk (6890126), Martin A. Erlandson (3684556), Cathy Coutu (455473), Boyd A. Mori (3326061)   +6 more
core   +1 more source

Biochemical and Immunohistochemical Associations of TDP‐43 and Cryptic RNA With Hippocampal and Amygdala Volumetrics in Alzheimer's Disease

Annals of Neurology, EarlyView.
Objective Immunohistochemically (IHC) measured transactive response DNA‐binding protein 43 (TDP‐43) inclusions are observed in Alzheimer's disease (AD) and are associated with medial temporal lobe atrophy. Accumulation of cryptic exons occurs in AD in response to TDP‐43 pathology.
Hossam Youssef, Rodolfo G. Gatto, Nikhil B. Ghayal, Virginia Estades Ayuso, Karen R. Jansen‐West, Judith A. Dunmore, Yuping Song, Mei Yue, Casey N. Cook, Michael DeTure, Bailey D. Rawlinson, Monica Castanedes‐Casey, Clifford R. Jack Jr, Ronald C. Petersen, Dennis W. Dickson, Leonard Petrucelli, Jennifer L. Whitwell, Mercedes Prudencio, Keith A. Josephs   +18 more
wiley   +1 more source

Genetic‐Proteomic Integration Identifies Predictive Plasma Proteins for Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Multiple sclerosis (MS) develops after a prolonged preclinical phase. Identifying circulating biomarkers that capture this early biology can improve risk stratification and guide intervention. We aimed to identify plasma proteins driving MS susceptibility using large‐scale proteogenomic integration and to evaluate their prediagnostic ...
Yuan Ding, Dylan Hamitouche, Simon Thebault, Patrick Kearns, Ahmed Abdelhak, Adil Harroud   +5 more
wiley   +1 more source

Haplotype analysis of POLB SNPs.

, 2015
Haplotype analysis of POLB SNPs.
Bin Liu (5899), Fengchun Zhang (309978), Chongwei Cao (768986), Jing Li (10611), Yuan Li (67017), Shulan Zhang (138557), Si Chen (164760), Yongzhe Li (528191), Ziyan Wu (141134), Ping Li (31981)   +9 more
core   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source