Detalhe da pesquisa
1.
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
J Med Genet
; 2022 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768194
2.
Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.
Int J Mol Sci
; 24(5)2023 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36901733
3.
Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma.
Int J Mol Sci
; 23(24)2022 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555667
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.
COVID-19 spreading across world correlates with C677T allele of the methylenetetrahydrofolate reductase (MTHFR) gene prevalence.
J Clin Lab Anal
; 35(7): e23798, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34061414
6.
Insights into Mechanisms of Tumorigenesis in Neuroendocrine Neoplasms.
Int J Mol Sci
; 22(19)2021 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638668
7.
Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.
Hum Mol Genet
; 27(23): 4145-4156, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30060076
8.
Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients.
J Transl Med
; 18(1): 78, 2020 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32054529
9.
Coping with formalin banning in pathology: under vacuum long-term tissue storage with no added formalin.
Histochem Cell Biol
; 151(6): 501-511, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30604285
10.
CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients.
J Am Acad Dermatol
; 80(5): 1263-1271, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30274933
11.
Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Nature
; 531(7592): 126, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633630
12.
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Nature
; 480(7375): 94-8, 2011 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22012259
13.
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.
Hum Genet
; 135(11): 1241-1249, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27449771
14.
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.
J Am Acad Dermatol
; 74(2): 325-32, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26775776
15.
CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.
Hum Mutat
; 35(7): 828-40, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24659262
16.
Skeletal and cranio-facial signs in Gorlin syndrome from ancient Egypt to the modern age: sphenoid asymmetry in a patient with a novel PTCH1 mutation.
Future Oncol
; 10(6): 917-25, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24941978
17.
Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor.
Future Oncol
; 10(3): 345-50, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24559443
18.
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
19.
Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome.
Genes (Basel)
; 15(1)2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38254993
20.
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families.
J Med Genet
; 49(3): 164-70, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22368299