Associated Papers
Erratum to: Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.
Steinberg-Shemer O et al.
Haematologica, 2025
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair.
Peake JD et al.
Human Genetics, 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
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.
Thompson AS et al.
Molecular Genetics & Genomic Medicine, 2021
The Fanconi anemia ubiquitin E3 ligase complex as an anti-cancer target.
Sharp MF et al.
Molecular Cell, 2021
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.
Steinberg-Shemer O et al.
Haematologica, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Screening for mutations in two exons of FANCG gene in Pakistani population.
Aymun U et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2017
Colorectal and Endometrial Cancer Risk and Age at Diagnosis in BLMAsh Mutation Carriers.
Schayek H et al.
The Israel Medical Association Journal : Imaj, 2017
Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan.
Aftab I et al.
Turkish Journal of Medical Sciences, 2017
Carrier screening in the era of expanding genetic technology.
Arjunan A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.
Laitman Y et al.
Cancer Genetics, 2016
Update of the human and mouse Fanconi anemia genes.
Dong H et al.
Human Genomics, 2015
Diagnosis of Fanconi anemia by diepoxybutane analysis.
Auerbach AD
Current Protocols in Human Genetics, 2015
Hematological consequences of a FANCG founder mutation in Black South African patients with Fanconi anemia.
Feben C et al.
Blood Cells, Molecules & Diseases, 2015
Fanconi anemia gene editing by the CRISPR/Cas9 system.
Osborn MJ et al.
Human Gene Therapy, 2015
High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.
Amouri A et al.
Molecular Genetics & Genomic Medicine, 2014
Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing.
Klugman S et al.
Genetic Testing and Molecular Biomarkers, 2013
[Fanconi anemia and the molecular mechanism of the repair of DNA crosslinks].
Hira A et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2013
FANCA and FANCG are the major Fanconi anemia genes in the Korean population.
Park J et al.
Clinical Genetics, 2013
A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.
de Vries Y et al.
Anemia, 2012
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
Gille JJ et al.
Anemia, 2012
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E et al.
Journal of Medical Genetics, 2011
Using mouse models to investigate the biological and physiological consequences of defects in the Fanconi anaemia/breast cancer DNA repair signalling pathway.
Tischkowitz M et al.
The Journal of Pathology, 2011
Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis.
Seif AE
Cancer Genetics, 2011
Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation.
Kabzińska D et al.
Acta Biochimica Polonica, 2011
Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.
Hartmann L et al.
American Journal of Human Genetics, 2010
Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.
Alter BP et al.
British Journal of Haematology, 2010
[Mechanisms of genomic instability in Fanconi anemia].
Itaya A et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2010
Genotype-phenotype correlations in Fanconi anemia.
Neveling K et al.
Mutation Research, 2009
Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
Fares F et al.
Prenatal Diagnosis, 2008
Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer.
Berwick M et al.
Cancer Research, 2007
The nuclear accumulation of the Fanconi anemia protein FANCE depends on FANCC.
Léveillé F et al.
Dna Repair, 2006
Should chromosome breakage studies be performed in patients with VACTERL association?
Faivre L et al.
American Journal of Medical Genetics. Part A, 2005
Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation.
Magdalena N et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2005
Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.
Levran O et al.
Human Mutation, 2005
Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings.
Merrill A et al.
Prenatal Diagnosis, 2005
Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA-matched donor.
Bielorai B et al.
American Journal of Hematology, 2004
Individualized risks of first adverse events in patients with Fanconi anemia.
Rosenberg PS et al.
Blood, 2004
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.
Wagner JE et al.
Blood, 2004
The Fanconi anemia pathway and the DNA interstrand cross-links repair.
Rosselli F et al.
Biochimie, 2003
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.
Offit K et al.
Journal of the National Cancer Institute, 2003
Carrier testing for autosomal-recessive disorders.
Vallance H et al.
Critical Reviews in Clinical Laboratory Sciences, 2003
Diagnosis of fanconi anemia by diepoxybutane analysis.
Auerbach AD
Current Protocols in Human Genetics, 2003
Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population.
Yagasaki H et al.
Human Mutation, 2003