Varaico: Literature-Extracted Genetic Variants

Gene:NLGN4X
Variant:p.D396insFs
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NLGN4X

NM_181332.3:p.D396insFs

Associated Papers

Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.

Scorrano G et al.

International Journal of Molecular Sciences, 2024

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes.

Nardello R et al.

Bmc Medical Genomics, 2021

Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.

Kopp N et al.

American Journal of Medical Genetics. Part A, 2021

Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics.

Nguyen TA et al.

Frontiers in Synaptic Neuroscience, 2020

Understanding intellectual disability and autism spectrum disorders from common mouse models: synapses to behaviour.

Verma V et al.

Open Biology, 2019

Association Analysis of Noncoding Variants in Neuroligins 3 and 4X Genes with Autism Spectrum Disorder in an Italian Cohort.

Landini M et al.

International Journal of Molecular Sciences, 2016

Synaptic proteins and receptors defects in autism spectrum disorders.

Chen J et al.

Frontiers in Cellular Neuroscience, 2014

Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism.

Volaki K et al.

Psychiatric Genetics, 2013

Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2.

Wöhr M et al.

Behavioural Brain Research, 2013

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.

Yanagi K et al.

Autism Research and Treatment, 2012

Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder.

Yasuda Y et al.

Molecular Autism, 2011

A sex-specific association of common variants of neuroligin genes (NLGN3 and NLGN4X) with autism spectrum disorders in a Chinese Han cohort.

Yu J et al.

Behavioral and Brain Functions : Bbf, 2011

A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population.

Pampanos A et al.

Genetic Testing and Molecular Biomarkers, 2009

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism.

Talebizadeh Z et al.

Journal of Medical Genetics, 2006

Do known mutations in neuroligin genes (NLGN3 and NLGN4) cause autism?

Talebizadeh Z et al.

Journal of Autism and Developmental Disorders, 2004

Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands.

Vincent JB et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2004

The search for autism disease genes.

Wassink TH et al.

Mental Retardation and Developmental Disabilities Research Reviews, 2004

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Jamain S et al.

Nature Genetics, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."