Results 21 to 30 of about 43,167 (288)

Expansion of Clinical and Genetic Spectrum of DDX3X Neurodevelopmental Disorder in 23 Chinese Patients

Frontiers in Molecular Neuroscience, 2022
AimDe novo DDX3X variants account for 1–3% of unexplained intellectual disability cases in females and very rarely in males. Yet, the clinical and genetic features of DDX3X neurodevelopmental disorder in the Chinese cohort have not been characterized ...
Yuwei Dai, Yuwei Dai, Zhuanyi Yang, Jialing Guo, Jialing Guo, Haoyu Li, Haoyu Li, Jiaoe Gong, Yuanyuan Xie, Yuanyuan Xie, Bo Xiao, Bo Xiao, Hua Wang, Hua Wang, Lili Long, Lili Long, Lili Long   +16 more
doaj   +1 more source

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

BMC Medical Genetics, 2020
Background The Houge type of X-linked syndromic mental retardation is an X-linked intellectual disability (XLID) recently recorded in the Online Mendelian Inheritance in Man (OMIM) and only 8 cases have been reported in literature thus far.
Mei Daoqi, Chen Guohong, Wang Yuan, Yang Zhixiao, Xu Kaili, Mei Shiyue   +5 more
doaj   +1 more source

Malformations among the X‐linked intellectual disability syndromes [PDF]

American Journal of Medical Genetics Part A, 2013
AbstractMalformations are significant contributions to childhood mortality and disability. Their co‐occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes ...
Roger E, Stevenson, Charles E, Schwartz, R Curtis, Rogers   +2 more
openaire   +2 more sources

Next-generation sequencing in X-linked intellectual disability [PDF]

European Journal of Human Genetics, 2015
X-linked intellectual disability (XLID) is a genetically heterogeneous disorder with more than 100 genes known to date. Most genes are responsible for a small proportion of patients only, which has hitherto hampered the systematic screening of large patient cohorts.
Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Küchler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter   +26 more
openaire   +3 more sources

Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: To report a prenatal diagnosis of int22h1/int22h2-mediated Xq28 duplication syndrome. Case report: Herein, we present the case of a 28-year-old female who had a previous ambiguous genitalia pregnancy without genetic abnormality that was ...
Yung Chen Chien, Jia Shing Chen, Yu Ming Shiao, Ching Hua Hsiao   +3 more
doaj   +1 more source

A novel hemizygous mutation associated with severe intellectual disability and epilepsy: a case report

Journal of International Medical Research, 2021
ARHGEF9 encodes collybistin, a brain-specific guanosine diphosphate-guanosine-5′-triphosphate exchange factor that plays an important role in clustering of gephyrin and γ-aminobutyric acid type A receptors in the postsynaptic membrane.
Tong Qiu, Qian Dai, Qiu Wang
doaj   +1 more source

Screening for offenders with an intellectual disability: The validity of the Learning Disability Screening Questionnaire [PDF]

, 2012
The study assessed the validity of an intellectual disability screening tool, the Learning Disability Screening Questionnaire (LDSQ), in three forensic settings: a community intellectual disability forensic service; a forensic in-patient secure unit and ...
Hales, Charlene, Michie, Amanda, Murray, Aja Louise, McKenzie, Karen   +3 more
core   +1 more source

A novel UBE2A splice site variant causing intellectual disability type Nascimento

Clinical Case Reports, 2022
X‐linked intellectual disability type Nascimento (XLID) is a rare disease caused by variants in the ubiquitin‐conjugating enzyme E2A gene (UBE2A). Patients with XLID have similar phenotypes, including speech impairments, severe intellectual disability ...
Shuyuan Yan, Yanling Wang, Ying Chen, Hongxia Yuan, Xiaoni Kuang, Da Hou, Xueyi Li, Linglin Pan, Guangwen Huang, Jun He, Tuanmei Wang, Xiangwen Peng   +11 more
doaj   +1 more source

Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function

Neurobiology of Disease, 2016
Intellectual disability encompasses a large set of neurodevelopmental disorders of cognition that are more common in males than females. Although mutations in over 100 X-linked genes associated to intellectual disability have been identified, only a few ...
Arezu Jahani-Asl, Cheng Cheng, Chi Zhang, Azad Bonni   +3 more
doaj   +1 more source

The evaluation of a screening tool for children with an intellectual disability: The Child and Adolescent Intellectual Disability Screening Questionnaire [PDF]

, 2012
The study outlines the evaluation of an intellectual disability screening tool, the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q), with two age groups.
Milanesi, Paula, Aja Louise Murray, Paula Milanesi, Karen McKenzie, Murray, Aja Louise, Donna Paxton, McKenzie, Karen, George Murray, Murray, George, Paxton, Donna   +9 more
core   +1 more source