E. G. Gómez García

发表

Do BRCA1/2 mutation carriers have an earlier onset of natural menopause?

M. Adank, S. Verhoef, C. V. van Asperen, 2016, Menopause.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

W. Chung, P. Hall, V. Pankratz, 2013, PLoS genetics.

A novel, possibly functional, single nucleotide polymorphism in the coding region of the thrombin-activatable fibrinolysis inhibitor (TAFI) gene is also associated with TAFI levels.

M. Boffa, M. Koschinsky, R. Bertina, 2001, Blood.

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.

Julie O. Culver, L. Kiemeney, M. Kloor, 2011, The Lancet. Oncology.

Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome

P. Møller, D. Evans, A. Spigelman, 2013, Familial Cancer.

Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)

E. Kuipers, J. Houwing-Duistermaat, T. Reinards, 2005, Journal of Medical Genetics.

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Mads Thomassen, Nina Ditsch, Vijai Joseph, 2012, Breast Cancer Research.

Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction.

H. Meijers-Heijboer, M. Hooning, S. Verhoef, 2015, Journal of the National Cancer Institute.

Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

W. Chung, R. Eeles, J. Hopper, 2018, JNCI cancer spectrum.

Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers

C. V. van Asperen, J. Oosterwijk, C. J. Asperen, 2018, British Journal of Cancer.

Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection

M. Zeegers, R. Brandão, A. Paulussen, 2009, Familial Cancer.

BMC Cancer

Leila Mohammadi, Peter Devilee, H. V. van Houwelingen, 2001 .

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

L. Vissers, A. Hoischen, J. Lupski, 2017, European Journal of Human Genetics.

Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers

J. Houwing-Duistermaat, S. Verhoef, A. Wagner, 2016, Familial Cancer.

Genetic variability of von Willebrand factor and risk of coronary heart disease: the Rotterdam Study

A. Hofman, J. Witteman, I. M. van der Meer, 2004, British journal of haematology.

Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations

D. Easton, A. Antoniou, L. J. Veer, 2013, Journal of Medical Genetics.

Levels of vitamin K-dependent procoagulant and anticoagulant proteins in over-anticoagulated patients

B. Stricker, F. Rosendaal, F. Penning-van Beest, 2002, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Hyponatraemic coma induced by desmopressin and ibuprofen in a woman with von Willebrand's disease

A. Ruitenberg, R. Hintzen, E. G. Gómez García, 2003, Haemophilia : the official journal of the World Federation of Hemophilia.

Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases

A. Hollestelle, P. Devilee, M. Schmidt, 2022, Journal of Medical Genetics.

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

P. Møller, A. Lindblom, A. Wagner, 2015, Journal of Clinical Oncology.

Gardner's syndrome (familial adenomatous polyposis): a cilia-related disorder.

N. Knoers, E. G. Gómez García, E. G. Gómez Garcia, 2009, The Lancet. Oncology.

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

P. Møller, O. Dekkers, A. Lindblom, 2015, Genetics in Medicine.

Determinants of adherence to recommendations on physical activity, red and processed meat intake, and body weight among lynch syndrome patients

E. Kampman, A. Vrieling, N. Hoogerbrugge, 2022, Familial Cancer.

Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer: A matched cohort study

A. Hollestelle, M. Hooning, C. V. van Asperen, 2022, PloS one.

Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency

R. Bertina, E. G. Gómez García, R. Bertina, 2001, British journal of haematology.

Detection of exon skipping events in BRCA1 RNA using MLPA kit P002

R. Brandão, M. Blok, E. G. Gómez García, 2012, Molecular Biology Reports.

Sexual functioning more than 15 years after premenopausal risk-reducing salpingo-oophorectomy.

N. Aaronson, A. Maas, M. Hooning, 2022, American journal of obstetrics and gynecology.

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

W. Chung, R. Nussbaum, F. Couch, 2017, Journal of the National Cancer Institute.

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

Mads Thomassen, Stephen Fox, Dieter Niederacher, 2011, Breast Cancer Research.

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia‐telangiectasia: A genotype–phenotype study

A. Broeks, N. Wulffraat, C. Catsman-Berrevoets, 2012, Human mutation.