IQSEC2 and X-linked syndromal intellectual disability-Reference-Cited by-同舟云学术

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IQSEC2 and X-linked syndromal intellectual disability

Published:2016-06 Issue:3 Volume:26 Page:101-108
ISSN:0955-8829
Container-title:Psychiatric Genetics
language:en
Short-container-title:

Author:

Alexander-Bloch Aaron F.,McDougle Christopher J.,Ullman Zhanna,Sweetser David A.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Biological Psychiatry,Psychiatry and Mental health,Genetics(clinical),Genetics

Reference44 articles.

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2. Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant;Bahi-Buisson;Neurogenetics,2010

3. Escape from X inactivation in mice and humans;Berletch;Genome Biol,2010

4. X-inactivation profile reveals extensive variability in X-linked gene expression in females;Carrel;Nature,2005

5. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome;De Pontual;Hum Mutat,2009

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1. Preliminary Study on Clinical Characteristics and Pathogenesis of IQSEC2 Mutations Patients;Pharmacogenomics and Personalized Medicine;2024-05

2. Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey;Children;2023-08-24

3. Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction;International Journal of Molecular Sciences;2023-02-15

4. Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients;Molecular Genetics & Genomic Medicine;2022-02-17

5. Estudio genético de acuerdo a características fenotípicas de niños y adolescentes con discapacidad intelectual de etiología indeterminada;Andes Pediatrica;2021-12-28

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