Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants-Reference-Cited by-同舟云学术

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Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants

Published:1998-03 Issue:3 Volume:62 Page:551-561
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Gilad Shlomit,Chessa Luciana,Khosravi Rami,Russell Pamela,Galanty Yaron,Piane Maria,Gatti Richard A.,Jorgensen Timothy J.,Shiloh Yosef,Bar-Shira Anat

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference72 articles.

1. Modulation of radiation-induced chromosomal damage by inhibitors of DNA repair and flow cytometric analysis in ataxia telangiectasia cells with ‘intermediate radiosensitivity.’;Antoccia;Mutagenesis,1995

2. Recommendations for a nomenclature system for human gene mutations;Antonarakis;Hum Mutat,1998

3. New mutations in the ataxia telangiectasia gene;Baumer;Hum Genet,1996

4. Radiosensitivity in ataxia-telangiectasia: anomalies in radiation-induced cell cycle delay;Beamish;Int J Radiat Biol,1994

5. Defect in multiple cell cycle checkpoints in ataxia-telangiectasia post-irradiation;Beamish;J Biol Chem,1996

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1. ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies;Blood;2024-09-12

2. Oxidative stress and the multifaceted roles of ATM in maintaining cellular redox homeostasis;Redox Biology;2024-09

3. Genome-scale quantification and prediction of pathogenic stop codon readthrough by small molecules;Nature Genetics;2024-08-22

4. An overview of early-onset cerebellar ataxia: a practical guideline;Acta Neurologica Belgica;2024-07-01

5. Regulation of transcription patterns, poly(ADP-ribose), and RNA-DNA hybrids by the ATM protein kinase;Cell Reports;2024-03

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