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Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1-expression: A pilot study.
- Published in:
- Genes, Chromosomes & Cancer, 2017, v. 56, n. 9, p. 691, doi. 10.1002/gcc.22473
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- Publication type:
- Article
New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.
- Published in:
- Genes, Chromosomes & Cancer, 2007, v. 46, n. 8, p. 751, doi. 10.1002/gcc.20461
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- Publication type:
- Article
Impact of gene patents on the cost-effective delivery of care: the case of BRCA1 genetic testing.
- Published in:
- 2003
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- Publication type:
- journal article
IMPACT OF GENE PATENTS ON THE COST-EFFECTIVE DELIVERY OF CARE: THE CASE OF BRCA1 GENETIC TESTING.
- Published in:
- International Journal of Technology Assessment in Health Care, 2003, v. 19, n. 2, p. 287, doi. 10.1017/S0266462303000266
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- Publication type:
- Article
Patterns of familial aggregation of three melanoma risk factors: great number of naevi, light phototype and high degree of sun exposure.
- Published in:
- International Journal of Epidemiology, 2000, v. 29, n. 3, p. 408, doi. 10.1093/intjepid/29.3.408
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- Publication type:
- Article
Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene.
- Published in:
- International Journal of Cancer, 2005, v. 117, n. 2, p. 230, doi. 10.1002/ijc.21176
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- Publication type:
- Article
Cancer risk in heterozygotes for ataxia-telangiectasia.
- Published in:
- International Journal of Cancer, 2001, v. 93, n. 2, p. 288, doi. 10.1002/ijc.1329
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- Publication type:
- Article
CDKN2A as a uveal and cutaneous melanoma susceptibility gene.
- Published in:
- Genes, Chromosomes & Cancer, 2003, v. 38, n. 3, p. 265
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- Publication type:
- Article
Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect.
- Published in:
- Genes, Chromosomes & Cancer, 2001, v. 32, n. 3, p. 195, doi. 10.1002/gcc.1183
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- Publication type:
- Article
Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome.
- Published in:
- 2015
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- Publication type:
- Letter
Influence of Genes, Nevi, and Sun Sensitivity on Melanoma Risk in a Family Sample Unselected by Family History and in Melanoma-Prone Families.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2004, v. 96, n. 10, p. 785, doi. 10.1093/jnci/djh136
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- Publication type:
- Article
Is systemic disease in the coelomic epithelium associated with BRCA1 germline mutations?
- Published in:
- 2004
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- Publication type:
- letter
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease.
- Published in:
- International Journal of Oncology, 2018, v. 53, n. 4, p. 1455, doi. 10.3892/ijo.2018.4490
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- Publication type:
- Article
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
- Published in:
- Nature Genetics, 2014, v. 46, n. 5, p. 482, doi. 10.1038/ng.2941
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- Publication type:
- Article
Genome-wide association study identifies three new melanoma susceptibility loci.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1108, doi. 10.1038/ng.959
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- Publication type:
- Article
A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers.
- Published in:
- 2021
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- Publication type:
- journal article
PARKIN Inactivation Links Parkinson's Disease to Melanoma.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3.
- Published in:
- 2017
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- Publication type:
- journal article
Genetic Testing for Melanoma-Where Are We With Moderate-Penetrance Genes?
- Published in:
- 2016
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- Publication type:
- journal article
Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas
- Published in:
- Molecular Oncology, 2008, v. 1, n. 4, p. 425, doi. 10.1016/j.molonc.2008.01.002
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- Publication type:
- Article
Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome.
- Published in:
- Familial Cancer, 2015, v. 14, n. 1, p. 151, doi. 10.1007/s10689-014-9752-1
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- Publication type:
- Article
Diversity of the clinical presentation of the MMR gene biallelic mutations.
- Published in:
- Familial Cancer, 2014, v. 13, n. 1, p. 131, doi. 10.1007/s10689-013-9676-1
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- Publication type:
- Article
BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma.
- Published in:
- Familial Cancer, 2007, v. 6, n. 4, p. 453
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- Publication type:
- Article
Melanoma Risk and Melanocyte Biology.
- Published in:
- Acta Dermato-Venereologica, 2020, v. 100, p. 272, doi. 10.2340/00015555-3494
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- Publication type:
- Article
The CDKN2A/p16 <sup> INK</sup><sup> 4a</sup> 5′ UTR sequence and translational regulation: impact of novel variants predisposing to melanoma.
- Published in:
- Pigment Cell & Melanoma Research, 2016, v. 29, n. 2, p. 210, doi. 10.1111/pcmr.12444
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- Publication type:
- Article
The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.
- Published in:
- 2016
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- Publication type:
- journal article
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 3, p. 1600, doi. 10.1093/nar/gkz1212
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- Publication type:
- Article
Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family(Communicated by Richard G.H. Cotton)Online Citation: Human Mutation, Mutation in Brief #619 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/619.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 6, p. 654, doi. 10.1002/humu.9148
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- Publication type:
- Article
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 520, doi. 10.1002/humu.1136
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- Publication type:
- Article
The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.
- Published in:
- Cancers, 2021, v. 13, n. 9, p. 2243, doi. 10.3390/cancers13092243
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- Publication type:
- Article
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 316, doi. 10.1002/humu.24313
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- Publication type:
- Article
Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 294, doi. 10.1002/humu.22489
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- Publication type:
- Article
Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 2, p. 209, doi. 10.1093/hmg/7.2.209
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- Publication type:
- Article