Associated Papers
Genomic profiles of IDH-mutant gliomas: MYCN-amplified IDH-mutant astrocytoma had the worst prognosis.
Lee K et al.
Scientific Reports, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.
Vaisfeld A et al.
Genes, 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
Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study.
Li DY et al.
Frontiers in Oncology, 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
ONCOGENE PANEL SEQUENCING ANALYSIS IDENTIFIES CANDIDATE ACTIONABLE GENES IN ADVANCED WELL-DIFFERENTIATED GASTROENTEROPANCREATIC NEUROENDOCRINE TUMORS.
Tirosh A et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2019
Alternative lengthening of telomeres phenotype and loss of ATRX expression in sarcomas.
Ren X et al.
Oncology Letters, 2018
Esophago-gastric motility and nutritional management in a child with ATR-X syndrome.
Watanabe T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome.
Iwase S et al.
Nature Structural & Molecular Biology, 2011
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
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
Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
Wada T et al.
American Journal of Medical Genetics, 2000
[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
Szczałuba K et al.
Medycyna Wieku Rozwojowego, 0