Results 271 to 280 of about 43,167 (288)

Donor splice‐site mutation in CUL4B is likely cause of X‐linked intellectual disability

American Journal of Medical Genetics, Part A, 2014
X-linked intellectual disability is the most common form of cognitive disability in males. Syndromic intellectual disability encompasses cognitive deficits with other medical and behavioral manifestations.
Nancy J Philp, Antonio Novelli, Emilia Vitale   +2 more
exaly   +2 more sources

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Atlas of X-Linked Intellectual Disability Syndromes

2011
Abstract Atlas of X-Linked Intellectual Disability Syndromes, 3rd Edition is a comprehensive reference for clinicians, laboratory geneticists, and researchers working to diagnose and understand X-linked intellectual disability (XLID).
Roger E. Stevenson, Charles E. Schwartz, R. Curtis Rogers   +2 more
openaire   +1 more source

X‐linked intellectual disability: Phenotypic expression in carrier females

Clinical Genetics, 2019
AbstractTo better understand the landscape of female phenotypic expression in X‐linked intellectual disability (XLID), we surveyed the literature for female carriers of XLID gene alterations (n = 1098) and combined this with experience evaluating XLID kindreds at the Greenwood Genetic Center (n = 341) and at the University of Adelaide (n = 157).
Catherine A. Ziats, Charles E. Schwartz, Jozef Gecz, Marie Shaw, Michael J. Field, Roger E. Stevenson, Giovanni Neri   +6 more
openaire   +2 more sources

Hemizygous SMARCA1 variants cause X-linked intellectual disability

Journal of Human Genetics
Pathogenic SNF2 related chromatin remodeling ATPase 1 (SMARCA1) variants have been reported in patients with X-linked intellectual disability (XLID) characterized by macrocephaly and variable neurological symptoms. Here, we report two unrelated male patients with XLID due to novel SMARCA1 variants detected by exome sequencing.
Naoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, Kotaro Yuge, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama, Atsushi Fujita, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Yoriko Watanabe, Hitoshi Osaka, Koh-Ichiro Yoshiura, Kazuhiro Ogata, Naomichi Matsumoto   +15 more
openaire   +2 more sources

Genetics of X-Linked Intellectual Disability

2016
Charles E. Schwartz, Luigi Boccuto
openaire   +1 more source

Fragile X Syndrome and X-linked Intellectual Disability

2013
K.B. Garber, S.T. Warren, J. Visootsak
openaire   +1 more source

A novel UBE2A mutation in a Chinese family with X‐linked intellectual disability

Journal of Gene Medicine, 2020
Weimin Jia, Xianqin Zhang
exaly  

Non‐syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies

Clinical Genetics, 2020
Maria-Isabel Tejada, Nekane Ibarluzea
exaly  

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

Human Molecular Genetics, 2019
Marie Shaw, Vera M Kalscheuer, Mark A Corbett   +2 more
exaly  

IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features

European Journal of Medical Genetics, 2012
Jessica A Hellings
exaly