Detalhe da pesquisa
1.
Homologous recombination deficiency in newly diagnosed FIGO stage III/IV high-grade epithelial ovarian cancer: a multi-national observational study.
Int J Gynecol Cancer
; 33(8): 1253-1259, 2023 08 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37072323
2.
Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term secondary lifestyle behavioural outcomes.
BJOG
; 129(12): 1970-1980, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35781768
3.
British Gynaecological Cancer Society/British Association of Gynaecological Pathology consensus for germline and tumor testing for BRCA1/2 variants in ovarian cancer in the United Kingdom.
Int J Gynecol Cancer
; 31(2): 272-278, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33468564
4.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Am J Hum Genet
; 101(3): 451-458, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886343
5.
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Hum Genet
; 138(8-9): 1027-1042, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29464339
6.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
J Med Genet
; 55(6): 384-394, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29386252
7.
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
Hum Mol Genet
; 25(9): 1836-45, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26945007
8.
Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations.
J Med Genet
; 53(7): 472-80, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26993268
9.
Variation in serotonin transporter linked polymorphic region (5-HTTLPR) short/long genotype modulates resting frontal electroencephalography asymmetries in children.
Dev Psychopathol
; 28(1): 239-50, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25990287
10.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Am J Hum Genet
; 101(5): 866, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100096
11.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Am J Hum Genet
; 101(4): 638, 2017 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28985497
12.
Unselected Population Genetic Testing for Personalised Ovarian Cancer Risk Prediction: A Qualitative Study Using Semi-Structured Interviews.
Diagnostics (Basel)
; 12(5)2022 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35626184
13.
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.
Eur Urol Oncol
; 3(6): 764-772, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31831373
14.
Population Study of Ovarian Cancer Risk Prediction for Targeted Screening and Prevention.
Cancers (Basel)
; 12(5)2020 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32429029
15.
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.
Res Pract Thromb Haemost
; 2(4): 640-652, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349881
16.
Serotonin 5-HTTLPR Genotype Modulates Reactive Visual Scanning of Social and Non-social Affective Stimuli in Young Children.
Front Behav Neurosci
; 11: 118, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28690502
17.
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
J Clin Endocrinol Metab
; 102(11): 4013-4022, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973655
18.
The Wnt antagonist sFRP1 in colorectal tumorigenesis.
Cancer Res
; 64(3): 883-8, 2004 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14871816
19.
Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
Eur J Hum Genet
; 24(11): 1591-1597, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27273131
20.
Multiplex PCR and Next Generation Sequencing for the Non-Invasive Detection of Bladder Cancer.
PLoS One
; 11(2): e0149756, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26901314