Associated Papers
Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes.
Bakır DB et al.
Orphanet Journal of Rare Diseases, 2025
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › BRCA2
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM4_ESM.xlsx › S_Table_1
Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.
Mutlu-Albayrak H et al.
Neurogenetics, 2020
A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome.
Celiksoy MH et al.
Journal of Pediatric Hematology/oncology, 2018
Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients.
Akturk H et al.
World Journal of Pediatrics : Wjp, 2017
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A
Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.
Heinrich T et al.
European Journal of Pediatrics, 2006
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N et al.
Human Molecular Genetics, 1999
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
Castellví-Bel S et al.
Human Mutation, 1999
Select a paper to view details