Detalhe da pesquisa
1.
Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort.
Clin Genet
; 96(6): 579-584, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31432501
2.
Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma.
Genes Chromosomes Cancer
; 57(6): 294-303, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29359367
3.
Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1-expression: A pilot study.
Genes Chromosomes Cancer
; 56(9): 691-694, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28560743
4.
Germline BAP1 mutations predispose to renal cell carcinomas.
Am J Hum Genet
; 92(6): 974-80, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23684012
5.
Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition.
Int J Cancer
; 136(9): 2109-19, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25303718
6.
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
Hum Mutat
; 35(1): 117-28, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24130121
7.
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.
J Med Genet
; 50(4): 264-70, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23384855
8.
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
J Med Genet
; 48(4): 226-34, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21398687
9.
Frequency and Genomic Aspects of Intrinsic Resistance to Vismodegib in Locally Advanced Basal Cell Carcinoma.
Clin Cancer Res
; 28(7): 1422-1432, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35078858
10.
Matrix metalloproteinase-3 and intracranial arterial dolichoectasia.
Ann Neurol
; 67(4): 508-15, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20437586
11.
Melanoma in xeroderma pigmentosum type C children: Overrepresentation of desmoplastic type?
J Am Acad Dermatol
; 72(6): e173-6, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25981029
12.
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.
Hum Mutat
; 29(9): 1154-60, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18683857
13.
Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.
Eur J Med Genet
; 51(5): 472-8, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18539553
14.
Angiosarcoma in patients with xeroderma pigmentosum: less aggressive and not so rare?
J Am Acad Dermatol
; 69(3): e142-3, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23957992
15.
Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.
Eur J Hum Genet
; 26(12): 1732-1742, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30089825
16.
MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas.
J Invest Dermatol
; 126(7): 1510-7, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16645598
17.
Pancreatic ductal adenocarcinoma in BRCA2 mutation carriers.
Endocr Relat Cancer
; 23(10): T57-67, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27511924
18.
PARKIN Inactivation Links Parkinson's Disease to Melanoma.
J Natl Cancer Inst
; 108(3)2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26683220
19.
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.
Eur J Hum Genet
; 13(8): 913-20, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15889046
20.
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Orphanet J Rare Dis
; 10: 135, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26471370