X-linked intellectual disability update 2017-Reference-Cited by-同舟云学术

X-linked intellectual disability update 2017

Published:2018-04-25 Issue:6 Volume:176 Page:1375-1388
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Neri Giovanni¹²^ORCID,Schwartz Charles E.¹,Lubs Herbert A.¹,Stevenson Roger E.¹^ORCID

Affiliation:

1. J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center; Greenwood South Carolina

2. Istituto di Medicina Genomica, Università Cattolica del S. Cuore; Rome Italy

Funder

National Institutes of Health

Greenwood Genetic Center Foundation

South Carolina Department of Disabilities and Special Needs

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference111 articles.

1. Some examples of the inheritance of mental deficiency: Apparently sex-linked idiocy and microcephaly;Allan;American Journal of Mental Deficiency,1944

2. Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females;Bain;American Journal of Human Genetics,2016

3. Disruption of RAB40AL function leads to Martin-Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder;Bedoyan;Journal of Medical Genetics,2012

4. Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus;Cacciagli;American Journal of Human Genetics,2013

5. Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction;Carroll;European Journal of Human Genetics,2017

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3. SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X‐Linked Intellectual Disability;Annals of Neurology;2024-07-29

4. X-Chromosome-wide association study for Alzheimer’s disease;2024-05-03

5. A novel AP1S2 variant causing leaky splicing in X‐linked intellectual disability: Further delineation and intrafamilial variability;American Journal of Medical Genetics Part A;2024-04-29