Found: 69
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Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36933-y
- By:
- Publication type:
- Article
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0116-6
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- Publication type:
- Article
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).
- Published in:
- 2014
- By:
- Publication type:
- journal article
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-178
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- Publication type:
- Article
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.
- Published in:
- Orphanet Journal of Rare Diseases, 2007, v. 2, p. 5, doi. 10.1186/1750-1172-2-5
- By:
- Publication type:
- Article
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene).
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1409
- By:
- Publication type:
- Article
Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention.
- Published in:
- British Journal of Haematology, 2014, v. 166, n. 6, p. 807, doi. 10.1111/bjh.12996
- By:
- Publication type:
- Article
Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention.
- Published in:
- British Journal of Haematology, 2014, v. 166, n. 1, p. 1, doi. 10.1111/bjh.12996
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- Publication type:
- Article
Germline RAD51C mutations confer susceptibility to ovarian cancer.
- Published in:
- Nature Genetics, 2012, v. 44, n. 5, p. 476, doi. 10.1038/ng.2223
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- Publication type:
- Article
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.
- Published in:
- Nature Genetics, 2011, v. 43, n. 2, p. 138, doi. 10.1038/ng.751
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- Publication type:
- Article
Mutation of the RAD51C gene in a Fanconi anemia–like disorder.
- Published in:
- Nature Genetics, 2010, v. 42, n. 5, p. 406, doi. 10.1038/ng.570
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- Publication type:
- Article
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
- Published in:
- Nature Genetics, 2007, v. 39, n. 2, p. 162, doi. 10.1038/ng1947
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- Publication type:
- Article
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
- Published in:
- BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-018-0520-1
- By:
- Publication type:
- Article
Genetic inactivation of the Fanconi anemia geneFANCC identified in the hepatocellular carcinomacell line HuH-7 confers sensitivity towardsDNA-interstrand crosslinking agents.
- Published in:
- Molecular Cancer, 2010, v. 9, p. 127, doi. 10.1186/1476-4598-9-127
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- Publication type:
- Article
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 4, p. 1, doi. 10.1371/journal.pgen.1006746
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- Publication type:
- Article
Living related liver transplantation in an adult patient with hepatocellular adenoma and carcinoma 13 years after bone marrow transplantation for Fanconi anemia: A case report.
- Published in:
- Hepatology Research, 2013, v. 43, n. 9, p. 991, doi. 10.1111/hepr.12043
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- Publication type:
- Article
Mutation Analysis of the <i>ERCC4/FANCQ</i> Gene in Hereditary Breast Cancer.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085334
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- Publication type:
- Article
Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052648
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- Publication type:
- Article
A Novel MCPH1 Isoform Complements the Defective Chromosome Condensation of Human MCPH1-Deficient Cells.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0040387
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- Publication type:
- Article
Fanconi Anemia Core Complex Gene Promoters Harbor Conserved Transcription Regulatory Elements.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022911
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- Publication type:
- Article
Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function.
- Published in:
- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009242
- By:
- Publication type:
- Article
SV40 large T-antigen disturbs the formation of nuclear DNA-repair foci containing MRE11.
- Published in:
- Oncogene, 2002, v. 21, n. 32, p. 4873, doi. 10.1038/sj.onc.1205616
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- Publication type:
- Article
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 861, doi. 10.1038/sj.ejhg.5200552
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- Publication type:
- Article
Localisation of a Fanconi anaemia gene to chromosome 9p.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 501, doi. 10.1038/sj.ejhg.5200241
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- Publication type:
- Article
FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.
- Published in:
- EMBO Journal, 2007, v. 26, n. 8, p. 2104, doi. 10.1038/sj.emboj.7601666
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- Publication type:
- Article
Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability.
- Published in:
- EMBO Journal, 2007, v. 26, n. 5, p. 1340, doi. 10.1038/sj.emboj.7601574
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- Publication type:
- Article
Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer.
- Published in:
- Breast Cancer Research & Treatment, 2011, v. 130, n. 3, p. 1021, doi. 10.1007/s10549-011-1681-1
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- Publication type:
- Article
Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia.
- Published in:
- Carcinogenesis, 2002, v. 23, n. 7, p. 1121, doi. 10.1093/carcin/23.7.1121
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- Publication type:
- Article
A novel approach to describe a U1 snRNA binding site.
- Published in:
- Nucleic Acids Research, 2003, v. 31, n. 23, p. 6963, doi. 10.1093/nar/gkg901
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- Publication type:
- Article
Exploring the link between MORF4L1 and risk of breast cancer.
- Published in:
- Breast Cancer Research, 2011, v. 13, n. 3, p. 1, doi. 10.1186/bcr2862
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- Publication type:
- Article
Exploring the link between MORF4L1 and risk of breast cancer.
- Published in:
- Breast Cancer Research, 2011, v. 13, n. 1, p. 1, doi. 10.1186/bcr2862
- By:
- Publication type:
- Article
Exploring the link between MORF4L1 and risk of breast cancer.
- Published in:
- 2011
- By:
- Publication type:
- journal article
RAD50 regulates mitotic progression independent of DNA repair functions.
- Published in:
- FASEB Journal, 2020, v. 34, n. 2, p. 2812, doi. 10.1096/fj.201902318R
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- Publication type:
- Article
Protective role of RAD50 on chromatin bridges during abnormal cytokinesis.
- Published in:
- FASEB Journal, 2014, v. 28, n. 3, p. 1331, doi. 10.1096/fj.13-236984
- By:
- Publication type:
- Article
Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Radiation‐induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay.
- Published in:
- Environmental & Molecular Mutagenesis, 2006, v. 47, n. 4, p. 260
- By:
- Publication type:
- Article
MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II.
- Published in:
- Journal of Cell Biology, 2011, v. 194, n. 6, p. 841, doi. 10.1083/jcb.201106141
- By:
- Publication type:
- Article
Elevated blood levels of Dickkopf‐1 are associated with acute infections.
- Published in:
- Immunity, Inflammation & Disease, 2018, v. 6, n. 4, p. 428, doi. 10.1002/iid3.232
- By:
- Publication type:
- Article
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
- Published in:
- Frontiers in Immunology, 2017, v. 8, p. 1, doi. 10.3389/fimmu.2017.01250
- By:
- Publication type:
- Article
Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 9, p. 1547, doi. 10.1007/s00467-018-3952-0
- By:
- Publication type:
- Article
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7361, doi. 10.1093/hmg/ddv437
- By:
- Publication type:
- Article
The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 22, p. 4948, doi. 10.1093/hmg/dds338
- By:
- Publication type:
- Article
Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 13, p. 2889, doi. 10.1093/hmg/dds115
- By:
- Publication type:
- Article
Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Correction to: Infantile fibrosarcoma with TPN3-NTRK3 fusion in a boy with Bloom Syndrome.
- Published in:
- Familial Cancer, 2022, v. 21, n. 1, p. 91, doi. 10.1007/s10689-020-00223-z
- By:
- Publication type:
- Article
A Rapid Method for Retrovirus-Mediated Identification of Complementation Groups in Fanconi Anemia Patients
- Published in:
- Molecular Therapy, 2005, v. 12, n. 5, p. 976, doi. 10.1016/j.ymthe.2005.04.021
- By:
- Publication type:
- Article
Brief Communications.
- Published in:
- Journal of Child Neurology, 1999, v. 14, n. 8, p. 541
- By:
- Publication type:
- Article