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Last Updated: 03/06/2025
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Found 140 publications
Phosphorylation of 'SDT-like' motifs in ATRX mediates its interaction with the MRN complex and is important for ALT pathway suppression.
Journal: Open biology
Published: December 10, 2024
Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review.
Journal: Frontiers in pediatrics
Published: July 06, 2024
Y chromosome damage underlies testicular abnormalities in ATR-X syndrome.
Journal: iScience
Published: November 23, 2023
Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.
Journal: BMC pediatrics
Published: November 23, 2023
Analysis of clinical features and ATRX gene variants in a Chinese pedigree affected with X-linked alpha thalassemia mental retardation (ATR-X) syndrome
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: November 23, 2023
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.
Journal: Journal of human genetics
Published: August 08, 2023
A mouse model of ATRX deficiency with cognitive deficits and autistic traits.
Journal: Journal of neurodevelopmental disorders
Published: August 04, 2023
A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.
Journal: Human molecular genetics
Published: January 24, 2023
The histone chaperone function of Daxx is dispensable for embryonic development.
Journal: Cell death & disease
Published: January 05, 2023
ATRX silences Cartpt expression in osteoblastic cells during skeletal development.
Journal: The Journal of clinical investigation
Published: July 18, 2022
Last Updated: 03/06/2025