Condition: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)


rs55770810 in BRCA1 gene and FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) PMID 25472942 2015 Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

rs1057516430 in FANCA gene and FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) PMID 15522956 2005 DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families after retroviral subtyping revealed a homozygous FANCA mutation (295C>T) leading to FANCA truncation and FA pathway disruption.

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

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

PMID 19367192 2009 Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

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

PMID 16397136 2006 Natural gene therapy in monozygotic twins with Fanconi anemia.

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

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

PMID 26136524 2015 Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.

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

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

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

PMID 29093742 2017 Integrative field scale phenotyping for investigating metabolic components of water stress within a vineyard.

PMID 29269525 2018 Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in 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 11091222 2000 Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

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

PMID 10807541 2000 Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.

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

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

PMID 10210316 1999 A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.

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

PMID 20435624 2010 Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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

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

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

PMID 24037726 2013 Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients.

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

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

PMID 11050007 2000 The fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia complex.

PMID 27041517 2016 Profiling Fanconi Anemia Gene Mutations among Iranian Patients.

PMID 23973728 2013 Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

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

PMID 21659346 2011 Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

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

PMID 25953249 2015 A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.

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 25583207 2015 DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity.

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

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

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

PMID 28864460 2017 A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents.

PMID 11063725 2000 The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.

PMID 17726045 2007 In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

PMID 15516848 2004 Fanconi anemia in Ashkenazi Jews.

PMID 15522956 2005 A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

PMID 16720839 2006 Evidence for subcomplexes in the Fanconi anemia pathway.

rs1555533300 in FANCA;ZNF276 gene and FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

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

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

PMID 11091222 2000 Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

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

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

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

PMID 10210316 1999 A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.

PMID 10807541 2000 Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.

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 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

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

PMID 24037726 2013 Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients.

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

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

rs1555534579 in ZNF276;FANCA gene and FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) PMID 9929978 1999 Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.

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

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

PMID 10807541 2000 Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.

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

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

PMID 11091222 2000 Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

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

PMID 10210316 1999 A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.

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

PMID 23973728 2013 Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

PMID 19367192 2009 Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

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

PMID 27041517 2016 Profiling Fanconi Anemia Gene Mutations among Iranian Patients.

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

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

PMID 26366677 2015 FANCA safeguards interphase and mitosis during hematopoiesis in vivo.

PMID 24037726 2013 Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients.

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

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

PMID 15059067 2004 Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.

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