Condition: FANCONI ANEMIA, COMPLEMENTATION GROUP C


rs104886457 in AOPEP;FANCC gene and FANCONI ANEMIA, COMPLEMENTATION GROUP C 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 8348157 1993 A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

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

PMID 20869034 2010 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.

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

PMID 24469828 2014 The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression.

PMID 16015582 2005 Should chromosome breakage studies be performed in patients with VACTERL association?

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.

rs1057516488 in AOPEP;FANCC;LOC107987102 gene and FANCONI ANEMIA, COMPLEMENTATION GROUP C 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.

rs104886456 in FANCC gene and FANCONI ANEMIA, COMPLEMENTATION GROUP C PMID 16015582 2005 Should chromosome breakage studies be performed in patients with VACTERL association?

PMID 19622403 2009 Fanconi anemia and its diagnosis.

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 15364573 2004 Intermediate DNA repair activity associated with the 322delG allele of the fanconi anemia complementation group C gene.

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

PMID 11427142 2001 Preimplantation diagnosis for Fanconi anemia combined with HLA matching.

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 7492758 1995 Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population.

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

PMID 11520787 2001 The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality.

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

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

PMID 11110674 2000 Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.

PMID 22701786 2012 A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.

PMID 20507306 2010 Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.

PMID 1641028 1992 Cloning of cDNAs for Fanconi's anaemia by functional complementation.

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

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

PMID 20509860 2010 Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents.

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

PMID 8844212 1996 Novel mutations and polymorphisms in the Fanconi anemia group C 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 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 29439820 2018 Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide.

PMID 23934222 2013 Fanconi anemia signaling network regulates the spindle assembly checkpoint.

PMID 10994546 2000 A heterozygous frameshift mutation in the Fanconi anemia C gene in familial T-ALL and secondary malignancy.

PMID 25801821 2015 Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology.

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

PMID 9452030 1998 Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream.

PMID 12670332 2003 Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia.

PMID 20869034 2010 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.

rs104886458 in FANCC;AOPEP gene and FANCONI ANEMIA, COMPLEMENTATION GROUP C PMID 8499901 1993 A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein.

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

PMID 24469828 2014 The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression.

PMID 11520787 2001 The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality.

PMID 12093742 2002 FANCE: the link between Fanconi anaemia complex assembly and activity.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 16015582 2005 Should chromosome breakage studies be performed in patients with VACTERL association?

PMID 9242535 1997 The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2.

PMID 8703809 1996 Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations.

PMID 26466335 2015 The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation.

PMID 1574115 1992 Cloning of cDNAs for Fanconi's anaemia by functional complementation.

PMID 15299030 2004 The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).

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

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

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 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 23634996 2013 Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.

PMID 26689913 2015 Patterns and functional implications of rare germline variants across 12 cancer types.

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

PMID 22720145 2012 Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.

rs121917785 in FANCC;LOC107987102;AOPEP gene and FANCONI ANEMIA, COMPLEMENTATION GROUP C PMID 15299030 2004 The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).

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

PMID 1574115 1992 Cloning of cDNAs for Fanconi's anaemia by functional complementation.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 9242535 1997 The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2.

PMID 8499901 1993 A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein.

PMID 11520787 2001 The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality.

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