Associated Papers
ATRX: From Chromatin Remodeling to Disease.
Magaña-Acosta M et al.
Genesis (new York, N.y. : 2000), 2025
Clinical variability in individuals with ATR-X syndrome in the Netherlands.
Noordhuis-Zijderveld A et al.
European Journal of Medical Genetics, 2025
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
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T et al.
European Journal of Human Genetics : Ejhg, 2024
The genetic cause of neurodevelopmental disorders in 30 consanguineous families.
Paracha SA et al.
Frontiers in Medicine, 2024
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y et al.
Science Advances, 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
Features and factors that dictate if terminating ribosomes cause or counteract nonsense-mediated mRNA decay.
Embree CM et al.
The Journal of Biological Chemistry, 2022
Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.
Vaisfeld A et al.
Genes, 2022
The ATRX splicing variant c.21-1G>A is asymptomatic.
Kojima K et al.
Human Genome Variation, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Phenotypic and Genetic Complexity in Pediatric Movement Disorders.
Kim MJ et al.
Frontiers in Genetics, 2022
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Barresi V et al.
Acta Neuropathologica Communications, 2021
ATR-X syndrome: genetics, clinical spectrum, and management.
León NY et al.
Human Genetics, 2021
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
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
Nonsense mutation-dependent reinitiation of translation in mammalian cells.
Cohen S et al.
Nucleic Acids Research, 2019
Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.
Nassar AH et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Sanchis-Juan A et al.
Frontiers in Genetics, 2019
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Feliciano P et al.
Npj Genomic Medicine, 2019
SA4503, A Potent Sigma-1 Receptor Ligand, Ameliorates Synaptic Abnormalities and Cognitive Dysfunction in a Mouse Model of ATR-X Syndrome.
Yamaguchi K et al.
International Journal of Molecular Sciences, 2018
Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome.
Shioda N et al.
Nature Medicine, 2018
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Bourchany A et al.
European Journal of Medical Genetics, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D et al.
Human Mutation, 2015
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
Basehore MJ et al.
Clinical Genetics, 2015
Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.
Niranjan TS et al.
Plos One, 2015
VaRank: a simple and powerful tool for ranking genetic variants.
Geoffroy V et al.
Peerj, 2015
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.
Moncini S et al.
Meta Gene, 2013
Reduced expression of the ATRX gene, a chromatin-remodeling factor, causes hippocampal dysfunction in mice.
Nogami T et al.
Hippocampus, 2011
Aberrant calcium/calmodulin-dependent protein kinase II (CaMKII) activity is associated with abnormal dendritic spine morphology in the ATRX mutant mouse brain.
Shioda N et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
Mutations in the chromatin-associated protein ATRX.
Gibbons RJ et al.
Human Mutation, 2008
The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon.
Buisson M et al.
Human Mutation, 2006
Denaturing HPLC-based assay for detection of ATRX gene mutations.
Falco M et al.
Clinical Chemistry, 2005
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.
Abidi FE et al.
European Journal of Human Genetics : Ejhg, 2005
Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation.
Howard MT et al.
Journal of Medical Genetics, 2004
Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.
Numakura C et al.
Annals of Neurology, 2000
Molecular-clinical spectrum of the ATR-X syndrome.
Gibbons RJ 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