Associated Papers
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.
Joshi G et al.
Journal of Medical Genetics, 2023
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.
George M et al.
Human Mutation, 2021
Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry.
Chan SH et al.
Jnci Cancer Spectrum, 2021
Severe telomere shortening in Fanconi anemia complementation group L.
Shah A et al.
Molecular Biology Reports, 2021
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
Pilonetto DV et al.
Molecular Genetics & Genomic Medicine, 2017
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
Nicchia E et al.
Molecular Genetics & Genomic Medicine, 2015
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
De Rocco D et al.
Haematologica, 2014
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Castella M et al.
Blood, 2011
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