Associated Papers
Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability.
Xu J et al.
Bmc Medical Genomics, 2025
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.
Ciaccio C et al.
Cerebellum (london, England), 2024
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Romaniello R et al.
International Journal of Molecular Sciences, 2022
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Frisk S et al.
Molecular Genetics & Genomic Medicine, 2022
Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells.
Kinoshita A et al.
Development (cambridge, England), 2021
Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function.
Terry LE et al.
The Journal of Biological Chemistry, 2020
Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review.
Stendel C et al.
Neuropediatrics, 2019
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Synofzik M et al.
European Journal of Human Genetics : Ejhg, 2018
Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.
De Silva D et al.
Bmc Pediatrics, 2018
Inositol 1,4,5-trisphosphate Receptor Mutations associated with Human Disease.
Terry LE et al.
Messenger (los Angeles, Calif. : Print), 2018
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.
Dentici ML et al.
Gene, 2017
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.
van Dijk T et al.
American Journal of Medical Genetics. Part A, 2017
Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.
Hsiao CT et al.
Plos One, 2017
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Gerber S et al.
American Journal of Human Genetics, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M et al.
American Journal of Human Genetics, 2016