Detalhe da pesquisa
1.
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Genet Med
; 23(11): 2087-2095, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34262154
2.
Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.
J Eur Acad Dermatol Venereol
; 32(5): 832-839, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178624
3.
Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.
Clin Genet
; 92(6): 606-615, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28300276
4.
Germline BAP1 mutations predispose also to multiple basal cell carcinomas.
Clin Genet
; 88(3): 273-7, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25080371
5.
[Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma]. / Recommandations pour le diagnostic de prédisposition génétique au mélanome cutané et pour la prise en charge des personnes à risque.
Ann Dermatol Venereol
; 142(1): 26-36, 2015 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-25600792
6.
Vismodegib resistant mutations are not selected in multifocal relapses of locally advanced basal cell carcinoma after vismodegib discontinuation.
J Eur Acad Dermatol Venereol
; 33(11): e422-e424, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31187903
7.
Clinical, dermoscopic, histological and molecular analysis of BAP1-inactivated melanocytic naevus/tumour in two familial cases of BAP1 syndrome.
Br J Dermatol
; 179(4): 973-975, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754391
8.
Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.
Br J Dermatol
; 168(5): 1109-13, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23278166
9.
[Pediatric keratocystic odontogenic tumor and nevoid basal cell carcinoma syndrome. Predictive factors for recurrence and aggressiveness]. / Tumeurs kératokystiques odontogènes de l'enfant et syndrome de Gorlin. Comment expliquer les récidives et l'agressivité des lésions ?
Rev Stomatol Chir Maxillofac
; 113(3): 148-54, 2012 Jun.
Artigo
em Francês
| MEDLINE | ID: mdl-22627056
10.
EDNRB gene variants and melanoma risk in two southern European populations.
Clin Exp Dermatol
; 36(7): 782-7, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21507037
11.
Primary gingival squamous cell carcinoma in a xeroderma pigmentosum type C patient.
J Eur Acad Dermatol Venereol
; 30(11): e157-e158, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26551352
12.
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
J Med Genet
; 46(7): 425-30, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19366998
13.
[Cancer genetic predisposition: current events and perspectives in 2010]. / Prédispositions génétiques aux cancers: actualités et perspectives en 2010.
Pathol Biol (Paris)
; 58(5): 324-30, 2010 Oct.
Artigo
em Francês
| MEDLINE | ID: mdl-20691548
14.
[Intra- and interfamilial phenotype variation in Birt-Hogg-Dubé syndrome: Consequences for therapy]. / Variation phénotypique intra- et interfamiliale dans le syndrome de Birt-Hogg-Dubé : conséquences sur la prise en charge.
Ann Dermatol Venereol
; 137(3): 203-7, 2010 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-20227563
15.
Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival.
Br J Dermatol
; 159(4): 968-73, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18717677
16.
Association between INK4a-ARF and p53 mutations in skin carcinomas of xeroderma pigmentosum patients.
J Natl Cancer Inst
; 92(22): 1841-7, 2000 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-11078762
17.
P16 UV mutations in human skin epithelial tumors.
Oncogene
; 18(39): 5477-81, 1999 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-10498902
18.
Interactions between ultraviolet light exposure and DNA repair gene polymorphisms may increase melanoma risk.
Br J Dermatol
; 162(4): 891-3, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20199546
19.
Germline and somatic mutations of the INK4a-ARF gene in a xeroderma pigmentosum group C patient.
J Invest Dermatol
; 119(6): 1355-60, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12485439
20.
Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.
Am J Med Genet
; 72(3): 324-8, 1997 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-9332663