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Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34349-8
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- Article
HPV types 16/18 L1 E6 and E7 proteins seropositivity and cervical cancer risk in HIV-positive and HIV-negative black South African women.
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- Infectious Agents & Cancer, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13027-022-00418-2
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- Article
Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors.
- Published in:
- Nature Medicine, 2003, v. 9, n. 5, p. 568, doi. 10.1038/nm852
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- Publication type:
- Article
Usefulness of high‐risk HPV early oncoprotein (E6 and E7) serological markers in the detection of cervical cancer: A systematic review and meta‐analysis.
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- Journal of Medical Virology, 2023, v. 95, n. 1, p. 1, doi. 10.1002/jmv.27900
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- Article
Genetic associations with carotid intima-media thickness link to atherosclerosis with sex-specific effects in sub-Saharan Africans.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28276-x
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- Article
Bayesian refinement of association signals for 14 loci in 3 common diseases.
- Published in:
- Nature Genetics, 2012, v. 44, n. 12, p. 1294, doi. 10.1038/ng.2435
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- 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
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).
- Published in:
- Nature Genetics, 2010, v. 42, n. 4, p. 292, doi. 10.1038/ng.553
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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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- Article
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.
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- Nature Genetics, 2007, v. 39, n. 2, p. 207, doi. 10.1038/ng1954
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- Article
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
- Published in:
- 2005
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- Publication type:
- Letter
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.
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- 2005
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- Publication type:
- Letter
Genetic variation in DLG5 is associated with inflammatory bowel disease.
- Published in:
- Nature Genetics, 2004, v. 36, n. 5, p. 476, doi. 10.1038/ng1345
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- Article
The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM.
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- Nature Genetics, 2000, v. 24, n. 1, p. 15, doi. 10.1038/71626
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- Publication type:
- Article
Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.
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- Nature Genetics, 1999, v. 22, n. 4, p. 379, doi. 10.1038/11956
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- Publication type:
- Article
Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.
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- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0289-z
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- Article
Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer.
- Published in:
- Genes, Chromosomes & Cancer, 2024, v. 63, n. 9, p. 1, doi. 10.1002/gcc.23275
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- Article
Investigation of association of the DLG5 gene with phenotypes of inflammatory bowel disease in the British population.
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- International Journal of Colorectal Disease, 2007, v. 22, n. 4, p. 419, doi. 10.1007/s00384-006-0151-4
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- Article
DNA diagnostics: goals and Challenges.
- Published in:
- British Medical Bulletin, 1999, v. 55, n. 2, p. 325, doi. 10.1258/0007142991902402
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- Publication type:
- Article
Association of a Deletion of GSTT2B with an Altered Risk of Oesophageal Squamous Cell Carcinoma in a South African Population: A Case-Control Study.
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- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029366
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- Publication type:
- Article
New links to the pathogenesis of Crohn disease provided by genome-wide association scans.
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- Nature Reviews Genetics, 2008, v. 9, n. 1, p. 9, doi. 10.1038/nrg2203
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- Article
Stratification by CARD15 variant genotype in a genome-wide search for inflammatory bowel disease susceptibility loci.
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- Human Genetics, 2003, v. 113, n. 6, p. 514, doi. 10.1007/s00439-003-1020-7
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- Article
Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation.
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- European Journal of Human Genetics, 2008, v. 16, n. 5, p. 619, doi. 10.1038/sj.ejhg.5201996
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- Publication type:
- Article
Recruiting first-degree relatives for prevention research: a comparison of clinician and proband-led methods of contact in Crohn's disease.
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- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1263, doi. 10.1038/sj.ejhg.5201699
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- Publication type:
- Article
Association of DLG5 R30Q variant with inflammatory bowel disease.
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- European Journal of Human Genetics, 2005, v. 13, n. 7, p. 835, doi. 10.1038/sj.ejhg.5201403
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- Publication type:
- Article
Sex stratification of an inflammatory bowel disease genome search shows male-specific linkage to the HLA region of chromosome 6.
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- European Journal of Human Genetics, 2002, v. 10, n. 4, p. 259, doi. 10.1038/sj.ejhg.5200792
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- Publication type:
- Article
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.
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- 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
Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy.
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- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 467, doi. 10.1038/sj.ejhg.5200210
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- Publication type:
- Article
Ranking lifestyle risk factors for cervical cancer among Black women: A case-control study from Johannesburg, South Africa.
- Published in:
- PLoS ONE, 2021, v. 16, n. 12, p. 1, doi. 10.1371/journal.pone.0260319
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- Publication type:
- Article
Novel and Known Gene-Smoking Interactions With cIMT Identified as Potential Drivers for Atherosclerosis Risk in West-African Populations of the AWI-Gen Study.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2019.01354
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- Article
The Relationship Between Environmental Exposure and Genetic Architecture of the 2q33 Locus With Esophageal Cancer in South Africa.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00406
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- Article
Interaction of FANCD2 and NBS1 in the DNA damage response.
- Published in:
- Nature Cell Biology, 2002, v. 4, n. 12, p. 913, doi. 10.1038/ncb879
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- Article
Kaposi sarcoma‐associated herpesvirus, HIV‐1 and Kaposi sarcoma risk in black South Africans diagnosed with cancer during antiretroviral treatment rollout.
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- International Journal of Cancer, 2023, v. 152, n. 10, p. 2081, doi. 10.1002/ijc.34454
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- Article
Thirteen cancers associated with HIV infection in a Black South African cancer patient population (1995‐2016).
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- International Journal of Cancer, 2023, v. 152, n. 2, p. 183, doi. 10.1002/ijc.34236
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- Article
FGFR2 genetic variants in women with breast cancer.
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- Molecular Medicine Reports, 2023, v. 28, n. 6, p. N.PAG, doi. 10.3892/mmr.2023.13113
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- Article
Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population.
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- Carcinogenesis, 2019, v. 40, n. 4, p. 513, doi. 10.1093/carcin/bgz026
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- Article
Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population.
- Published in:
- Carcinogenesis, 2012, v. 33, n. 11, p. 2155, doi. 10.1093/carcin/bgs262
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- Publication type:
- Article
Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa.
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- Carcinogenesis, 2011, v. 32, n. 12, p. 1855, doi. 10.1093/carcin/bgr211
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- Article
The Health and Economic Burdens of Lymphatic Filariasis Prior to Mass Drug Administration Programs.
- Published in:
- Clinical Infectious Diseases, 2020, v. 70, n. 12, p. 2561, doi. 10.1093/cid/ciz671
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- Article
Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis.
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- Journal of Investigative Dermatology, 1999, v. 113, n. 4, p. 673, doi. 10.1046/j.1523-1747.1999.00732.x
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- Article
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.
- Published in:
- Nature, 2013, v. 498, n. 7453, p. 232, doi. 10.1038/nature12170
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- Article
Esophageal Cancer Genomics in Africa: Recommendations for Future Research.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.864575
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- Publication type:
- Article
Short Report Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia.
- Published in:
- British Journal of Haematology, 2003, v. 123, n. 3, p. 469, doi. 10.1046/j.1365-2141.2003.04640.x
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- Publication type:
- Article
Trial Protocol: Communicating DNA-based risk assessments for Crohn's disease: a randomised controlled trial assessing impact upon stopping smoking.
- Published in:
- BMC Public Health, 2011, v. 11, n. 1, p. 44, doi. 10.1186/1471-2458-11-44
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- Publication type:
- Article
Lamina propria macrophage phenotypes in relation to Escherichia coli in Crohn's disease.
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- BMC Gastroenterology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12876-015-0305-3
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- Publication type:
- Article
Lamina propria macrophage phenotypes in relation to Escherichia coli in Crohn’s disease.
- Published in:
- BMC Gastroenterology, 2015, v. 15, n. 1, p. 75, doi. 10.1186/s12876-015-0305-3
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- Publication type:
- Article
Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 778, doi. 10.1002/humu.20358
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- Publication type:
- Article
Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.
- Published in:
- Human Mutation, 2006, v. 27, n. 1, p. 44, doi. 10.1002/humu.20264
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- Publication type:
- Article
Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease.
- Published in:
- Immunogenetics, 2000, v. 51, n. 1, p. 1, doi. 10.1007/s002510050001
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- Publication type:
- Article
Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 24, p. 4930, doi. 10.1093/hmg/ddq411
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- Publication type:
- Article