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
em Inglês
| MEDLINE | ID: mdl-36440963
2.
No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dubé syndrome.
Br J Cancer
; 122(4): 590-594, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31857718
3.
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
4.
Increased prevalence of BRCA1/2 mutations in women with macrotextured breast implants and anaplastic large cell lymphoma of the breast.
Blood
; 136(11): 1368-1372, 2020 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452517
5.
Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: a prospective analysis.
Int J Cancer
; 136(3): 668-77, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24947112
6.
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
em Inglês
| MEDLINE | ID: mdl-24285858
7.
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.
Mol Genet Genomic Med
; 11(2): e2098, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36382415
8.
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Hum Mutat
; 33(4): 690-702, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22253144
9.
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
Breast Cancer Res
; 14(1): R33, 2012 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22348646
10.
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
Breast Cancer Res
; 13(6): R110, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22053997
11.
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
Hum Genet
; 130(5): 685-99, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21597964
12.
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
Eur J Endocrinol
; 182(1): 47-56, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658438
13.
Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes.
Clin Cancer Res
; 26(2): 505-517, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31649042
14.
Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium.
Cancer Epidemiol Biomarkers Prev
; 29(2): 368-378, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31792088
15.
Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcome.
PLoS One
; 14(3): e0212952, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30845233
16.
Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates.
PLoS One
; 13(3): e0194938, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29601581
17.
Prophylactic mastectomy in BRCA1/2 mutation carriers and women at risk of hereditary breast cancer: long-term experiences at the Rotterdam Family Cancer Clinic.
Ann Surg Oncol
; 14(12): 3335-44, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17541692
18.
Variation in mutation spectrum partly explains regional differences in the breast cancer risk of female BRCA mutation carriers in the Netherlands.
Cancer Epidemiol Biomarkers Prev
; 23(11): 2482-91, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25103822
19.
A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.
Cancer Epidemiol Biomarkers Prev
; 21(8): 1362-70, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22729394