Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 01/07/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 51 publications
Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.
Journal: Ophthalmology and therapy
Published: December 26, 2024
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.
Journal: Cerebellum (London, England)
Published: August 14, 2024
ITPR1: The missing gene in miosis-ataxia syndrome?
Journal: American journal of medical genetics. Part A
Published: January 24, 2024
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 30, 2023
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
Journal: Prenatal diagnosis
Published: July 19, 2023
Gillespie's Syndrome Phenotype in A Patient with a Homozygous Variant of Uncertain Significance in the ITPR1 Gene.
Journal: Neuro-ophthalmology (Aeolus Press)
Published: May 16, 2022
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Journal: International journal of molecular sciences
Published: May 06, 2022
National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician
National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician
Journal: Journal francais d'ophtalmologie
Published: December 28, 2021
Gillespie syndrome: An atypical form and review of the literature.
Journal: Annals of medicine and surgery (2012)
Published: November 29, 2021
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Journal: Molecular genetics & genomic medicine
Published: September 10, 2021
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Journal: American journal of medical genetics. Part A
Published: December 30, 2020
Last Updated: 01/07/2026