Associated Papers
Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.
Faria JP et al.
Breast Cancer Research and Treatment, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Investigation of mutations in Fanconi anemia genes and malignancy predisposition in Brazilian patients.
Pillonetto DV et al.
International Journal of Laboratory Hematology, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG.
Reyes P et al.
International Journal of Molecular Sciences, 2022
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
Pilonetto DV et al.
Molecular Genetics & Genomic Medicine, 2017
Genetic counseling for Fanconi anemia: crosslinking disciplines.
Zierhut HA et al.
Journal of Genetic Counseling, 2014
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
Gille JJ et al.
Anemia, 2012
[Mechanisms of genomic instability in Fanconi anemia].
Itaya A et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2010
Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.
Auerbach AD et al.
Human Mutation, 2003
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.
Demuth I et al.
European Journal of Human Genetics : Ejhg, 2000
[Fanconi anemia].
Bessho F
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2000
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