Detalhe da pesquisa
1.
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
J Med Genet
; 60(4): 327-336, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137616
2.
Sexual functioning more than 15 years after premenopausal risk-reducing salpingo-oophorectomy.
Am J Obstet Gynecol
; 228(4): 440.e1-440.e20, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403862
3.
Long-term effects of premenopausal risk-reducing salpingo-oophorectomy on cognition in women with high familial risk of ovarian cancer: A cross-sectional study.
BJOG
; 130(8): 968-977, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36715559
4.
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study.
Am J Obstet Gynecol
; 225(1): 51.e1-51.e17, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493488
5.
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res
; 22(1): 8, 2020 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31948486
6.
Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res
; 22(1): 25, 2020 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32102695
7.
Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 177(3): 723-733, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31302855
8.
Familial co-occurrence of congenital heart defects follows distinct patterns.
Eur Heart J
; 39(12): 1015-1022, 2018 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29106500
9.
Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers.
Br J Cancer
; 119: 357-363, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29937543
10.
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Mol Genet Metab
; 118(2): 123-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27067449
11.
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
Hum Mol Genet
; 22(7): 1473-81, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23297363
12.
A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects.
Am J Med Genet A
; 164A(11): 2732-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25099673
13.
Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal Turner syndrome: a pathomorphological study.
Fetal Diagn Ther
; 36(1): 59-68, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24903004
14.
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.
Am J Med Genet C Semin Med Genet
; 163C(3): 178-84, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23794396
15.
Haploinsufficiency of TAB2 causes congenital heart defects in humans.
Am J Hum Genet
; 86(6): 839-49, 2010 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20493459
16.
The value of the clinical geneticist caring for adults with congenital heart disease: diagnostic yield and patients' perspective.
Am J Med Genet A
; 161A(7): 1628-37, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23696448
17.
High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of BRCA1/2 Pathogenic Variants: Prevalence and Clinical Factors.
J Clin Oncol
; 41(14): 2523-2535, 2023 05 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36809028
18.
Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer: A matched cohort study.
PLoS One
; 17(9): e0275015, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137114
19.
Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers: A nationwide cohort study.
Breast
; 61: 98-107, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34929424
20.
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.
Neurogenetics
; 12(4): 263-71, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21993715