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1.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34314705
2.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Genet Med
; 26(5): 101101, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38362852
3.
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium.
Breast Cancer Res
; 25(1): 72, 2023 06 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-37340476
4.
Sexual functioning more than 15 years after premenopausal risk-reducing salpingo-oophorectomy.
Am J Obstet Gynecol
; 228(4): 440.e1-440.e20, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36403862
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36715559
6.
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Genet Med
; 23(8): 1474-1483, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33941880
7.
Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients' and health professionals' attitudes, experiences, and evaluation of effects on treatment decision making.
J Surg Oncol
; 116(8): 1029-1039, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28703900
8.
Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial.
Genet Med
; 18(2): 137-44, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25905441
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36809028
10.
Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers: A nationwide cohort study.
Breast
; 61: 98-107, 2022 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-34929424
11.
Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: design of a multicenter randomized clinical trial.
BMC Cancer
; 11: 6, 2011 Jan 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-21219598
12.
'We don't know for sure': discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations.
Fam Cancer
; 19(1): 65-76, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31773425
13.
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Cancers (Basel)
; 11(8)2019 Aug 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31382694
14.
Breast cancer genetic counseling after diagnosis but before treatment: a pilot study on treatment consequences and psychological impact.
Patient Educ Couns
; 89(1): 89-95, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22543000
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