Associated Papers
ATRX: From Chromatin Remodeling to Disease.
Magaña-Acosta M et al.
Genesis (new York, N.y. : 2000), 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.
Axelsson TA et al.
Bju International, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.
Wang Y et al.
Bmc Pediatrics, 2024
Investigating the structural and functional consequences of germline single nucleotide polymorphisms located in the genes of the alternative lengthening of telomere (ALT) pathway.
Nila NN et al.
Heliyon, 2024
Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.
Lee CL et al.
Frontiers in Genetics, 2024
Mutant ATRX: pathogenesis of ATRX syndrome and cancer.
Yuan K et al.
Frontiers in Molecular Biosciences, 2024
Detection of ictal apnea refines the clinical spectrum of ATRX syndrome.
Banat G et al.
Epilepsy & Behavior Reports, 2024
Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review.
Comisi FF et al.
Frontiers in Pediatrics, 2024
"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S et al.
Acta Neuropathologica, 2023
A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.
Tillotson R et al.
Human Molecular Genetics, 2023
Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.
Vaisfeld A et al.
Genes, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
The chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin.
Truch J et al.
Nature Communications, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.
Li N et al.
Brain : a Journal of Neurology, 2022
Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review.
Cong Y et al.
Frontiers in Pediatrics, 2022
A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.
Aiba K et al.
European Journal of Medical Genetics, 2021
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.
Stabile M et al.
Molecular Medicine Reports, 2020
Neurodevelopmental Disorders Caused by Defective Chromatin Remodeling: Phenotypic Complexity Is Highlighted by a Review of ATRX Function.
Timpano S et al.
Frontiers in Genetics, 2020
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Alternative lengthening of telomeres phenotype and loss of ATRX expression in sarcomas.
Ren X et al.
Oncology Letters, 2018
The importance of dynamic re-analysis in diagnostic whole exome sequencing.
Need AC et al.
Journal of Medical Genetics, 2017
A case report of mitochondrial respiratory chain disorder in the neonatal period for which home mechanical ventilation was introduced.
Sugimoto M et al.
No to Hattatsu = Brain and Development, 2017
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Yavarna T et al.
Human Genetics, 2015
Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.
Lacoste C et al.
Clinical Genetics, 2014
[Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome].
Lin SB et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013
α-Thalassemia, mental retardation, and myelodysplastic syndrome.
Gibbons RJ
Cold Spring Harbor Perspectives in Medicine, 2012
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.
De La Fuente R et al.
Reproduction (cambridge, England), 2011
ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome.
Iwase S et al.
Nature Structural & Molecular Biology, 2011
The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.
Dhayalan A et al.
Human Molecular Genetics, 2011
The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea.
Yun KW et al.
Journal of Korean Medical Science, 2011
First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability.
Pavone P et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2010
Mutations in the chromatin-associated protein ATRX.
Gibbons RJ et al.
Human Mutation, 2008
Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX.
Argentaro A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
Badens C et al.
American Journal of Medical Genetics. Part A, 2006
A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.
Wada T et al.
American Journal of Medical Genetics. Part A, 2006
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.
Badens C et al.
Clinical Genetics, 2006
Gastrointestinal phenotype of ATR-X syndrome.
Martucciello G et al.
American Journal of Medical Genetics. Part A, 2006
Alpha thalassaemia-mental retardation, X linked.
Gibbons R
Orphanet Journal of Rare Diseases, 2006
Denaturing HPLC-based assay for detection of ATRX gene mutations.
Falco M et al.
Clinical Chemistry, 2005
A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein.
Tang J et al.
The Journal of Biological Chemistry, 2004