Results 21 to 30 of about 8,409,709 (279)

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

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

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

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

Use of health and dental care services in adults with intellectual disability in relation to age and intellectual disability levels [PDF]

, 2022
Background - This study investigates the use of health and dental care services in adults with intellectual disability in the last 12 months according to Norwegian recommendations and in relation to age and intellectual disability levels.
Wilhelmsen, Per, Anke, Audny Gabriele Wagner, Audny Anke, Marianne Berg Halvorsen, Monica Isabel Olsen, Ellen Melbye Langballe, Søndenaa, Erik, Bautz-Holter, Erik, Erik Bautz-Holter, Olsen, Monica Isabel Benedikte, Per Wilhelmsen, Halvorsen, Marianne Berg, Langballe, Ellen Melbye, Erik Søndenaa   +13 more
core   +1 more source

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

BMC Medical Genomics, 2018
Background The etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative genomic hybridization, whole exome or genome sequencing.
Alena Zablotskaya, Hilde Van Esch, Kevin J. Verstrepen, Guy Froyen, Joris R. Vermeesch   +4 more
doaj   +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

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