Detalhe da pesquisa
1.
Multiplex melanoma families are enriched for polygenic risk.
Hum Mol Genet
; 29(17): 2976-2985, 2020 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32716505
2.
Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab.
Immunogenetics
; 71(5-6): 433-436, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30714079
3.
Correction to: Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab.
Immunogenetics
; 71(7): 511, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147739
4.
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.
J Am Acad Dermatol
; 81(2): 386-394, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30731170
5.
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
Nature
; 480(7375): 99-103, 2011 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22080950
6.
Loss-of-function variants in POT1 predispose to uveal melanoma.
J Med Genet
; 58(4): 234-236, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32907878
7.
A rare missense variant in protection of telomeres 1 (POT1) predisposes to a range of haematological malignancies.
Br J Haematol
; 192(2): e57-e60, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33216348
8.
Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases.
Twin Res Hum Genet
; 18(2): 126-33, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25787093
9.
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
10.
Combined photodynamic therapy and transpupillary thermotherapy for small choroidal melanoma.
Can J Ophthalmol
; 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38431268
11.
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
12.
Choroidal melanoma with synchronous Fuchs' adenoma and novel ATRX mutation.
Int J Retina Vitreous
; 8(1): 24, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35365243
13.
Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes.
Cancer Discov
; 12(12): 2856-2879, 2022 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36098958
14.
FRAMe: Familial Risk Assessment of Melanoma-a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma.
Fam Cancer
; 20(3): 231-239, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989607
15.
Genomic analysis of adult case of ocular surface giant congenital melanocytic nevus and associated clinicopathological findings.
Ophthalmic Genet
; 41(6): 616-620, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32814477
16.
Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours.
Nat Commun
; 11(1): 2408, 2020 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32415113
17.
Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma.
Pigment Cell Melanoma Res
; 32(6): 854-863, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31233279
18.
A Panel of Circulating MicroRNAs Detects Uveal Melanoma With High Precision.
Transl Vis Sci Technol
; 8(6): 12, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31737436
19.
Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.
Melanoma Res
; 29(5): 483-490, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31464824
20.
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
J Med Genet
; 44(2): 99-106, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16905682