Detalhe da pesquisa
1.
Incidental pathogenic germline alterations detected through liquid biopsy in patients with solid tumors: prevalence, clinical utility and implications.
Br J Cancer
; 130(9): 1420-1431, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38532104
2.
The MC1R r allele does not increase melanoma risk in MITF E318K carriers.
Br J Dermatol
; 188(6): 770-776, 2023 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36879448
3.
Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.
Br J Dermatol
; 187(5): 753-764, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35701387
4.
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations.
J Med Genet
; 57(5): 316-321, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30291219
5.
Histologic features of melanoma associated with germline mutations of CDKN2A, CDK4, and POT1 in melanoma-prone families from the United States, Italy, and Spain.
J Am Acad Dermatol
; 83(3): 860-869, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32283231
6.
IRF4 rs12203592 functional variant and melanoma survival.
Int J Cancer
; 140(8): 1845-1849, 2017 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28103633
7.
Inherited functional variants of the lymphocyte receptor CD5 influence melanoma survival.
Int J Cancer
; 139(6): 1297-302, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27169428
8.
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
Genet Med
; 18(7): 727-36, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681309
9.
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
Ann Neurol
; 77(5): 889-94, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25631192
10.
Time and tumor type (primary or metastatic) do not influence the detection of BRAF/NRAS mutations in formalin fixed paraffin embedded samples from melanomas.
Clin Chem Lab Med
; 54(11): 1733-1738, 2016 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27101548
11.
Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.
J Am Acad Dermatol
; 71(5): 888-95, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25064638
12.
Sex as a predictor of response to cancer immunotherapy.
Lancet Oncol
; 19(8): e375, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30102225
13.
Longitudinal gut microbiome changes in immune checkpoint blockade-treated advanced melanoma.
Nat Med
; 30(3): 785-796, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38365950
14.
Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters.
Exp Dermatol
; 22(7): 494-6, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23800065
15.
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Genes (Basel)
; 14(4)2023 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37107571
16.
Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.
JAAD Int
; 11: 43-51, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36876055
19.
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.
Front Aging Neurosci
; 14: 1073258, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36688175
20.
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.
J Clin Med
; 11(13)2022 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35806855