13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement-Reference-Cited by-同舟云学术

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13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement

Published:2020-09 Issue:8 Volume:42 Page:581-586
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Miura Masaki,Ishiyama Akihiko,Nakagawa Eiji,Sasaki Masayuki,Kurosawa Kenji,Inoue Ken,Goto Yu-ichi

Funder

Intramural Research Grant

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference11 articles.

1. Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder;Tabet;Mol Autism,2015

2. Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2;Kuroda;Am J Med Genet A,2014

3. Neurobeachin: a protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic;Wang;J Neurosci,2000

4. The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism;Castermans;J Med Genet,2003

5. Molecular genetic delineation of a deletion of chromosome 13q12–>q13 in a patient with autism and auditory processing deficits;Smith;Cytogenet Genome Res,2002

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1. A genomic hotspot of diversifying selection and structural change in the hoary bat (Lasiurus cinereus);PeerJ;2024-05-31

2. Genotypic and phenotypic spectra of NBEA-related neurodevelopmental disorder with epilepsy: a case series and literature review;World Journal of Pediatrics;2022-07-19

3. Autism spectrum disorder comorbid with obsessive compulsive disorder and eating disorder in a woman with NBEA deletion;Psychiatry and Clinical Neurosciences;2021-11-23

4. Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA;Molecular Genetics and Metabolism;2021-09

5. 13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay;Genes;2021-08-26

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