Detalhe da pesquisa
1.
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.
Hum Mol Genet
; 32(7): 1223-1235, 2023 03 20.
Artigo
Inglês
| MEDLINE | ID: mdl-36440963
2.
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.
J Med Genet
; 58(4): 264-269, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32482799
3.
Genetic control of tumor development in malformation syndromes.
Am J Med Genet A
; 185(2): 324-335, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33141500
4.
Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families.
J Med Genet
; 56(9): 581-589, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31186341
5.
MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial.
Lancet Oncol
; 20(8): 1136-1147, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31221620
6.
Multiple tumors due to mosaic genome-wide paternal uniparental disomy.
Pediatr Blood Cancer
; 66(6): e27715, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30882989
7.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
J Med Genet
; 55(1): 15-20, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28490613
8.
Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making.
J Genet Couns
; 28(3): 533-542, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30629779
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
Inglês
| MEDLINE | ID: mdl-29937543
10.
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
Br J Cancer
; 118(2): 266-276, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29301143
11.
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
Br J Cancer
; 118(6): e17, 2018 03 20.
Artigo
Inglês
| MEDLINE | ID: mdl-29509747
12.
Serum AMH levels in healthy women from BRCA1/2 mutated families: are they reduced?
Hum Reprod
; 31(11): 2651-2659, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27907901
13.
Inverse birth cohort effects in ovarian cancer: Increasing risk in BRCA1/2 mutation carriers and decreasing risk in the general population.
Gynecol Oncol
; 140(2): 289-94, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26631606
14.
Survival benefit in women with BRCA1 mutation or familial risk in the MRI screening study (MRISC).
Int J Cancer
; 137(7): 1729-38, 2015 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25820931
15.
Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations.
J Med Genet
; 51(2): 98-107, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24285858
16.
Relevance and efficacy of breast cancer screening in BRCA1 and BRCA2 mutation carriers above 60 years: a national cohort study.
Int J Cancer
; 135(12): 2940-9, 2014 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24789418
17.
Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk.
Int J Cancer
; 133(1): 156-63, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23292943
18.
Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families: an explorative assessment.
Psychooncology
; 22(5): 1167-76, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22777929
19.
The counselees' self-reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: not only psychopathology matters.
Psychooncology
; 22(4): 902-10, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22740372
20.
Rare variants in XRCC2 as breast cancer susceptibility alleles.
J Med Genet
; 49(10): 618-20, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23054243