Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Purpose: The purpose of the current study was to assess the penetrance of NRXN1
deletions. Methods: We compared the prevalence and genomic extent of NRXN1 deletions …
deletions. Methods: We compared the prevalence and genomic extent of NRXN1 deletions …
NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series–further understanding of the relevance of NRXN1 to …
Background Microdeletions in the NRXN1 gene have been associated with a range of
neurodevelopmental disorders, including autism spectrum disorders, schizophrenia …
neurodevelopmental disorders, including autism spectrum disorders, schizophrenia …
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs
NRXN1 microdeletions occur at a relatively high frequency and confer increased risk for
neurodevelopmental and neurobehavioral abnormalities. The mechanism that makes …
neurodevelopmental and neurobehavioral abnormalities. The mechanism that makes …
Investigation of NRXN1 deletions: Clinical and molecular characterization
MP Dabell, JA Rosenfeld, P Bader… - American Journal of …, 2013 - Wiley Online Library
Abstract Deletions at 2p16. 3 involving exons of NRXN1 are associated with susceptibility for
autism and schizophrenia, and similar deletions have been identified in individuals with …
autism and schizophrenia, and similar deletions have been identified in individuals with …
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
F Béna, DL Bruno, M Eriksson… - American Journal of …, 2013 - Wiley Online Library
This study aimed to elucidate the observed variable phenotypic expressivity associated with
NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with …
NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with …
Neuronal impact of patient-specific aberrant NRXN1α splicing
NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions
in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human …
in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human …
Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions
Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1)
gene are associated with a wide spectrum of developmental and neuropsychiatric disorders …
gene are associated with a wide spectrum of developmental and neuropsychiatric disorders …
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families
M Al Shehhi, EB Forman, JE Fitzgerald… - European journal of …, 2019 - Elsevier
The spectrum of phenotypes associated with heterozygous deletions of neurexin-1 (NRXN1)
is diverse and includes: autism spectrum disorder, attention deficit hyperactivity disorder …
is diverse and includes: autism spectrum disorder, attention deficit hyperactivity disorder …
Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders
L Duong, LL Klitten, RS Møller… - American Journal of …, 2012 - Wiley Online Library
Mutation of the neurexin1‐gene, NRXN1, interrupting the expression of neurexin1 has been
associated with schizophrenia, autism, and intellectual disability. We have identified a family …
associated with schizophrenia, autism, and intellectual disability. We have identified a family …
Functional Impacts of NRXN1 Knockdown on Neurodevelopment in Stem Cell Models
Exonic deletions in NRXN1 have been associated with several neurodevelopmental
disorders, including autism, schizophrenia and developmental delay. However, the …
disorders, including autism, schizophrenia and developmental delay. However, the …