Results 261 to 270 of about 8,409,709 (279)

IQSEC2 and X-linked syndromal intellectual disability

Psychiatric Genetics, 2016
Despite the recent acceleration in the discovery of genetic risk factors for intellectual disability (ID), the genetic etiology of ID is unknown in approximately half of cases and remains a major frontier of genetics in medicine and psychiatry. The distinction between syndromal and nonsyndromal forms of ID is of great clinical importance, but the ...
Aaron F, Alexander-Bloch, Christopher J, McDougle, Zhanna, Ullman, David A, Sweetser   +3 more
openaire   +2 more sources

Ocular manifestations in the X-linked intellectual disability syndromes

Ophthalmic Genetics, 2017
Intellectual disability (ID), a common neurodevelopmental disorder characterized by limitations of both intellectual functioning and adaptive behavior, affects an estimated 1-2% of children. Genetic causes of ID are often accompanied by recognizable syndromal patterns.
Natario L. Couser, Maheer M. Masood, Arthur S. Aylsworth, Roger E. Stevenson   +3 more
openaire   +2 more sources

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

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

Clinical Genetics, 2020
Tejada Mi, Nekane Ibarluzea
exaly  

Recording of intellectual disability in general hospitals in England 2006–2019: Cohort study using linked datasets

PLoS Medicine, 2023
Christoph Mueller, André Strydom, Rory Sheehan   +2 more
exaly  

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

European Journal of Medical Genetics, 2014
Marcia Pimentel, Cintia Santos-Rebouças, Andressa Pereira Gonçalves   +2 more
exaly