Condition: Fanconi Anemia


rs104886457 in AOPEP;FANCC gene and Fanconi Anemia PMID 24584348 2014 Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

PMID 8844212 1996 Novel mutations and polymorphisms in the Fanconi anemia group C gene.

PMID 28425259 2017 IVS4+4A>T, del322G, and R548X, in FA patients.

PMID 8882868 1996 Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 9207444 1997 Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.

PMID 8103176 1993 FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.

rs730881710 in AOPEP;FANCC;LOC107987102 gene and Fanconi Anemia PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 8844212 1996 Novel mutations and polymorphisms in the Fanconi anemia group C gene.

PMID 8103176 1993 FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.

PMID 24584348 2014 Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

rs81002899 in BRCA2 gene and Fanconi Anemia PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 11185744 2000 The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.

PMID 26834852 2016 Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.

PMID 15070707 2004 Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

PMID 26920070 2016 BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.

PMID 21548014 2012 The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.

PMID 25085752 2014 Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

PMID 15645491 2005 A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.

PMID 23893897 2013 Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

PMID 25682074 2015 Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

PMID 21719596 2011 A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

rs137852986 in BRIP1 gene and Fanconi Anemia PMID 26968956 2016 Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.

PMID 16116424 2005 The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

PMID 16116423 2005 The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

rs1060501879 in FANCA gene and Fanconi Anemia PMID 19367192 2009 Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

PMID 11739169 2001 A cytoplasmic serine protein kinase binds and may regulate the Fanconi anemia protein FANCA.

PMID 10090479 1999 The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability.

PMID 12444097 2002 Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.

PMID 15523645 2004 Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.

PMID 9371798 1997 Sequence variation in the Fanconi anemia gene FAA.

PMID 26799702 2016 FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.

PMID 10094191 1999 Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

PMID 29269525 2018 Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.

PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

PMID 22778927 2012 Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

PMID 12697994 2002 Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction.

PMID 10521298 1999 High frequency of large intragenic deletions in the Fanconi anemia group A gene.

PMID 28102861 2017 Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.

PMID 29098742 2018 A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

PMID 25703136 2015 Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant.

PMID 9371789 1997 Genes regulated by androgen in the rat ventral prostate.

PMID 16084127 2005 A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

PMID 21273304 2011 Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

PMID 8896564 1996 Positional cloning of the Fanconi anaemia group A gene.

PMID 24584348 2014 Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

PMID 15643609 2005 Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

PMID 19278965 2009 Diagnosis of Fanconi anemia in patients with bone marrow failure.

PMID 1792455 1991 Leucocyte count as an alternative to ESR in general practice?

PMID 12955722 2003 Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.

PMID 9399890 1997 Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

PMID 19423727 2009 Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.

PMID 9929978 1999 Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.

PMID 24349332 2013 Human Fanconi anemia complementation group a protein stimulates the 5' flap endonuclease activity of FEN1.

PMID 9711872 1998 Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.

PMID 28717661 2017 A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.

PMID 23898106 2013 Investigation of FANCA mutations in Greek patients.

PMID 28423363 2017 Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.

rs1060501887 in FANCA;ZNF276 gene and Fanconi Anemia PMID 19367192 2009 Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

PMID 28717661 2017 A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.

PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

PMID 24584348 2014 Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

PMID 21273304 2011 Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

PMID 15643609 2005 Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

PMID 29098742 2018 A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

PMID 28102861 2017 Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.

PMID 10094191 1999 Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

rs104886456 in FANCC gene and Fanconi Anemia PMID 8348157 1993 A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

PMID 10666230 2000 The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.

PMID 8081385 1994 The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population.

PMID 8639804 1996 Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity.

PMID 27133164 2016 Fanconi Anemia Proteins Function in Mitophagy and Immunity.

PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

PMID 22778927 2012 Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

PMID 23028338 2012 Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

PMID 7689011 1993 A nonsense mutation and exon skipping in the Fanconi anaemia group C gene.

PMID 8128956 1994 Mutation analysis of the Fanconi anemia gene FACC.

PMID 8103176 1993 FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.

PMID 9207444 1997 Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.

PMID 26740942 2015 Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 26990548 2016 NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

PMID 16429406 2006 Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.

rs774209201 in FANCC;AOPEP gene and Fanconi Anemia PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

rs121917787 in FANCD2 gene and Fanconi Anemia PMID 17308347 2007 Insights into Fanconi Anaemia from the structure of human FANCE.

PMID 11239453 2001 Positional cloning of a novel Fanconi anemia gene, FANCD2.

PMID 17436244 2007 Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

rs745495865 in FANCF;GAS2 gene and Fanconi Anemia PMID 15262960 2004 The Fanconi anemia gene product FANCF is a flexible adaptor protein.

rs1060501862 in FANCG gene and Fanconi Anemia PMID 12552564 2003 Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.

PMID 9806458 1998 DNA extraction and stability for epidemiological studies.

PMID 11093276 2000 Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.

PMID 25703136 2015 A common ancestral haplotype is strongly suggested in the Korean and Japanese patients with Fanconi anemia (FA), because common mutations have been frequently found: c.2546delC and c.3720_3724delAAACA of FANCA; c.307+1G>C, c.1066C>T, and c.1589_1591delATA of FANCG.

PMID 12673805 2003 Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population.

PMID 9806548 1998 The Fanconi anaemia group G gene FANCG is identical with XRCC9.

PMID 22778927 2012 Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

PMID 28717661 2017 A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.

rs375656231 in FANCI gene and Fanconi Anemia PMID 26296701 2015 Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

rs1205006300 in FANCL gene and Fanconi Anemia PMID 19405097 2009 Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

rs1558727300 in FANCL;VRK2 gene and Fanconi Anemia PMID 19405097 2009 Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

rs147021911 in FANCM gene and Fanconi Anemia PMID 26740942 2015 Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

PMID 27542569 2016 FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome.

PMID 19423727 2009 Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.

PMID 25288723 2014 Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.

PMID 25078778 2014 Distribution and medical impact of loss-of-function variants in the Finnish founder population.

PMID 16116422 2005 A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.

rs1564641485 in LOC107987102;AOPEP;FANCC gene and Fanconi Anemia PMID 24584348 2014 Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

PMID 8103176 1993 FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.

PMID 8882868 1996 Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant.

rs1567166544 in SLX4 gene and Fanconi Anemia PMID 19596235 2009 Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair.

PMID 19596236 2009 Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases.

rs397507560 in VCP;FANCG gene and Fanconi Anemia PMID 12552564 2003 Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.

PMID 11438206 2001 Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9.

PMID 11093276 2000 Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.

rs1558737575 in VRK2;FANCL gene and Fanconi Anemia PMID 19405097 2009 Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 17938197 2007 UBE2T, the Fanconi anemia core complex, and FANCD2 are recruited independently to chromatin: a basis for the regulation of FANCD2 monoubiquitination.

PMID 12973351 2003 A novel ubiquitin ligase is deficient in Fanconi anemia.

PMID 19111657 2008 Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI.

PMID 24389026 2014 Structure of the human FANCL RING-Ube2T complex reveals determinants of cognate E3-E2 selection.

rs397507553 in ZNF276;FANCA gene and Fanconi Anemia PMID 15643609 2005 Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

PMID 21273304 2011 Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

PMID 9371798 1997 Sequence variation in the Fanconi anemia gene FAA.