Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.
Yamaguchi T et al.
Japanese Journal of Clinical Oncology, 2025
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
Integrated proteogenomic analysis for inherited bone marrow failure syndrome.
Wakamatsu M et al.
Leukemia, 2024
Inducing multiple nicks promotes interhomolog homologous recombination to correct heterozygous mutations in somatic cells.
Tomita A et al.
Nature Communications, 2023
Primary lymphoma of bone in children: Three case reports and literature review.
Zhang M et al.
Pediatric Discovery, 2023
Validation of Pathogenicity of Gene Variants in Fanconi Anemia Using Patient-derived Dermal Fibroblasts.
Park SY et al.
Annals of Laboratory Medicine, 2023
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair.
Peake JD et al.
Human Genetics, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.
Yin L et al.
Jama Network Open, 2022
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
Fanconi Anemia: A Syndrome of Anemia and Skeletal Malformations Progressing to a Gene Network Involved in Genomic Stability and Malignant Disease.
Poot M
Molecular Syndromology, 2020
Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.
Shin HC et al.
Cancer Research and Treatment, 2020
Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies.
Nie D et al.
Bmc Medical Genetics, 2020
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M et al.
Haematologica, 2020
Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population - case report.
Repczynska A et al.
Molecular Cytogenetics, 2020
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M et al.
Haematologica, 2019
Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia.
Yabe M et al.
Annals of Hematology, 2019
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.
Donovan FX et al.
Human Mutation, 2016
Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant.
Park J et al.
Annals of Human Genetics, 2015
Genetic counseling for Fanconi anemia: crosslinking disciplines.
Zierhut HA et al.
Journal of Genetic Counseling, 2014
Current insights into inherited bone marrow failure syndromes.
Chung NG et al.
Korean Journal of Pediatrics, 2014
FANCA and FANCG are the major Fanconi anemia genes in the Korean population.
Park J et al.
Clinical Genetics, 2013
A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.
Lee HJ et al.
Annals of Laboratory Medicine, 2012
[Mechanisms of genomic instability in Fanconi anemia].
Itaya A et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2010
Correction of mutant Fanconi anemia gene by homologous recombination in human hematopoietic cells using adeno-associated virus vector.
Paiboonsukwong K et al.
The Journal of Gene Medicine, 2009
Myeloid lineage-selective growth of revertant cells in Fanconi anaemia.
Hamanoue S et al.
British Journal of Haematology, 2006
Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.
Yagasaki H et al.
Human Mutation, 2004
Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.
Adachi D et al.
Human Molecular Genetics, 2002
Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.
Yamashita T et al.
International Journal of Hematology, 2001
[Fanconi anemia].
Bessho F
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2000
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.
Yamada T et al.
Journal of Human Genetics, 2000
The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability.
Tachibana A et al.
Human Mutation, 1999
Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.
Nakamura A et al.
Journal of Human Genetics, 1999