Detalhe da pesquisa
1.
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
Hum Mol Genet
; 31(12): 1970-1978, 2022 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999892
2.
Monozygotic twins and cholesteatomas: nature or nuture?
Eur Arch Otorhinolaryngol
; 280(12): 5649-5654, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37737872
3.
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
Br J Cancer
; 126(9): 1339-1345, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35184155
4.
Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
Mol Genet Genomics
; 297(3): 859-871, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35451682
5.
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Lancet Oncol
; 22(11): 1618-1631, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34678156
6.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Am J Hum Genet
; 103(1): 3-18, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909963
7.
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY).
J Med Genet
; 57(4): 226-236, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31719169
8.
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
Br J Cancer
; 121(2): 180-192, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31213659
9.
Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations.
BJU Int
; 123(2): 284-292, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29802810
10.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Nature
; 493(7432): 406-10, 2013 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23242139
11.
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
Genet Med
; 20(12): 1575-1582, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565421
12.
Familial hypereosinophilia associated with eosinophilic gastrointestinal symptoms in individuals with a missense mutation in CKLF-like MARVEL transmembrane domain containing 3.
Clin Exp Allergy
; 51(11): 1501-1504, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34048099
13.
Immunocytochemical detection of ERG expression in exfoliated urinary cells identifies with high specificity patients with prostate cancer.
BJU Int
; 117(4): 686-96, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26471473
14.
Cowden's syndrome with immunodeficiency.
J Med Genet
; 52(12): 856-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246517
15.
The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services.
Breast Cancer Res
; 16(5): 442, 2014 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25510853
16.
Gene-gene interactions in breast cancer susceptibility.
Hum Mol Genet
; 21(4): 958-62, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072393
17.
Pharmacological management of fragile X syndrome: a systematic review and narrative summary of the current evidence.
Expert Opin Pharmacother
; 25(3): 301-313, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38393835
18.
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Clin Endocrinol (Oxf)
; 78(6): 898-906, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23072324
19.
Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.
JHEP Rep
; 5(8): 100764, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37484212
20.
Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study.
J Am Heart Assoc
; 11(8): e023741, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35383466