Results 101 to 110 of about 156,383 (305)

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

Haplotypes frequency and association analysis. [PDF]

, 2014
Significant p-values are in italic bold. Common Haplotypes are shown, if frequency more than 2.5%.1Based on 10000 permutations.2Corrected by Bonferroni.3Based on comparison of frequency distribution of all haplotypes for the combination of SNPs ...
Bao Zhang (186933), Dexing Zhong (610984), Zufei Feng (610983), Haojie Yang (488653), Nan Zhang (46264), Yuehong Xu (610982), Bo Zhang (6559), Tianxiao Zhang (172364)   +7 more
core   +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

HLA and hemochromatosis disease association in São Miguel Island [PDF]

, 2008
Mestrado em Biologia Molecular e CelularA hemocromatose hereditária uma doença autossómica recessiva do metabolismo do ferro, geralmente associada à mutação C282Y no gene HFE. Presume-se que a origem desta mutação tenha ocorrido por acaso no haplótipo
Gomes, Cidália Maria Teixeira
core   +1 more source

Novel IL10 gene family associations with systemic juvenile idiopathic arthritis [PDF]

, 2006
Juvenile idiopathic arthritis (JIA) is the most common cause of chronic childhood disability and encompasses a number of disease subgroups. In this study we have focused on systemic JIA (sJIA), which accounts for approximately 11% of UK JIA cases.
Woo, P, Samuel, JM, Gutierrez, Ana, Lewis, C M; id_orcid, Lewis, CM, Woo, Patricia, Samuel, J M, Fife, M S, Ogilvie, Emma M., Carmel JW Stock, Fife, MS, Lewis, Cathryn M., Emma M Ogilvie, Ogilvie, EM, Ana Gutierrez, Mack, LF, Fife, Mark S., Samuel, Jane M., Thomson, W, Cathryn M Lewis, Mark S Fife, Mack, L F, Mack, Lisa F., Ogilvie, E M, Gutierrez, A, Jane M Samuel, Stock, CJW, Stock, C J W, Stock, Carmel J W, Wendy Thomson, Thomson, Wendy, Patricia Woo, Lisa F Mack   +32 more
core   +1 more source

Two Years of Ocrelizumab Treatment in Black and Hispanic People with Multiple Sclerosis in CHIMES: A Single‐Arm Clinical Trial

Annals of Neurology, EarlyView.
Objective To evaluate the effectiveness and safety of ocrelizumab in self‐identified black and Hispanic people with relapsing multiple sclerosis. Methods The Characterization of Ocrelizumab in Minorities with Multiple Sclerosis (CHIMES) trial, a prospective, open‐label, single‐arm, phase 4 study, intentionally recruited underrepresented populations in ...
Lilyana Amezcua, Anthony T. Reder, Evanthia Bernitsas, Nancy L. Monson, Timothy Vartanian, Gregory F. Wu, Mansoor Saleh, Annette Okai, Ahmed Z. Obeidat, Dilraj Sokhi, Rikisha Parekh, Jinglan Pei, Christopher Harp, David Clayton, Ibraheem Abioye, Mitzi J. Williams, for the CHIMES Study Group   +16 more
wiley   +1 more source

Haplotypes of Echinococcus granulosus sensu stricto in Chile and Their Comparison Through Sequences of the Mitochondrial cox1 Gene with Haplotypes from South America and Other Continents

Parasitologia
Cystic echinococcosis is a zoonosis caused by the cestode Echinococcus granulosus sensu stricto. Population genetic studies and phylogeographic patterns are essential to understanding the transmission dynamics of this parasite under varying environmental
Nicole Urriola-Urriola, Gabriela Rossi-Vargas, Yenny Nilo-Bustios   +2 more
doaj   +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

Analysis of cpDNA haplotypes. [PDF]

, 2016
(A) A 50% majority rule consensus tree of the Bayesian analysis. The designated haplotype numbers are in accordance with Table 1; each haplotype is represented by one sequence.
Lucia Hreusová (2938431), Jan Douda (525967), Bohumil Mandák (117143), Karol Krak (525971), Petr Vít (578708), Alexander Belyayev (2938428)   +5 more
core   +1 more source

Association of miR-146a Gene Polymorphism with Systemic Lupus Erthymatous Disease

Journal of Pure and Applied Microbiology, 2018
The present study was carried out to detect the association of microRNA-146a haplotypes polymorphisms with Systemic lupus erythematous (SLE) in Iraqi patients, PCR-SSCP technique used in present study, blood was used to DNA extraction, the results show ...
Methak Jasim AL-Jboory
doaj   +1 more source