BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance
Eccles, D.M., Mitchell, G., Monteiro, A.N.A., Schmutzler, R., Couch, F.J., Spurdle, A.B., Gómez-García, E.B., Driessen, R., Lindor, N.M., Blok, M.J., Moller, P., de la Hoya, M., Pal, T., Domchek, S., Nathanson, K., Van Asperen, C., Diez, O., Rheim, K., Stoppa-Lyonnet, D., Parsons, M., Goldgar, D.
Published in Annals of oncology (01.10.2015)
Published in Annals of oncology (01.10.2015)
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Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes
Lammens, C. R. M., Bleiker, E. M. A., Verhoef, S., Ausems, M. G. E. M., Majoor-Krakauer, D., Sijmons, R. H., Hes, F. J., Gómez-García, E. B., Van Os, T. A. M., Spruijt, L., van der Luijt, R. B., van den Ouweland, A. M. W., Ruijs, M. W. G., Gundy, C., Nagtegaal, T., Aaronson, N. K.
Published in Psycho-oncology (Chichester, England) (01.06.2011)
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Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress
Lammens, CRM, Bleiker, EMA, Verhoef, S, Hes, FJ, Ausems, MGEM, Majoor-Krakauer, D, Sijmons, RH, Van Der Luijt, RB, Van Den Ouweland, AMW, Van Os, Tam, Hoogerbrugge, N, Gómez García, EB, Dommering, CJ, Gundy, CM, Aaronson, NK
Published in Clinical genetics (01.05.2010)
Published in Clinical genetics (01.05.2010)
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Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group
Kerkhofs, C H H, Spurdle, A B, Lindsey, P J, Goldgar, D E, Gómez-García, E B
Published in Hereditary cancer in clinical practice (30.04.2016)
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Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers
Ghorbanoghli, Z., Nieuwenhuis, M. H., Houwing-Duistermaat, J. J., Jagmohan-Changur, S., Hes, F. J., Tops, C. M., Wagner, A., Aalfs, C. M., Verhoef, S., Gómez García, E. B., Sijmons, R. H., Menko, F. H., Letteboer, T. G., Hoogerbrugge, N., van Wezel, T., Vasen, H. F. A., Wijnen, J. T.
Published in Familial cancer (01.10.2016)
Published in Familial cancer (01.10.2016)
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Nonpolypoid colorectal neoplasms: a challenge in endoscopic surveillance of patients with Lynch syndrome
Rondagh, E J A, Gulikers, S, Gómez-García, E B, Vanlingen, Y, Detisch, Y, Winkens, B, Vasen, H F A, Masclee, A A M, Sanduleanu, S
Published in Endoscopy (2013)
Published in Endoscopy (2013)
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The – 148 C/T fibrinogen gene polymorphism and fibrinogen levels in ischaemic stroke: a case–control study
van Goor, M P J, Gómez-García, E B, Leebeek, F W G, Brouwers, G J, Koudstaal, P J, Dippel, D W J
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2005)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2005)
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Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits
Lammens, C. R. M., Bleiker, E. M. A., Aaronson, N. K., Wagner, A., Sijmons, R. H., Ausems, M. G. E. M., Vriends, A. H. J. T., Ruijs, M. W. G., van Os, T. A. M., Spruijt, L., Gómez García, E. B., Cats, A., Nagtegaal, T., Verhoef, S.
Published in Familial cancer (01.12.2010)
Published in Familial cancer (01.12.2010)
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Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency
Gómez García, E. B., Poort, S. R., Stibbe, J., Sturk, A., Schaap, M. C. L., Kappers, M., Bertina, R. M.
Published in British journal of haematology (01.02.2001)
Published in British journal of haematology (01.02.2001)
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Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection
van Harssel, J. J. T., van Roozendaal, C. E. P., Detisch, Y., Brandão, R. D., Paulussen, A. D. C., Zeegers, M., Blok, M. J., Gómez García, E. B.
Published in Familial cancer (01.06.2010)
Published in Familial cancer (01.06.2010)
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Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction
Heemskerk-Gerritsen, B A M, Seynaeve, C, van Asperen, C J, Ausems, M G E M, Collée, J M, van Doorn, H C, Gomez Garcia, E B, Kets, C M, van Leeuwen, F E, Meijers-Heijboer, H E J, Mourits, M J E, van Os, T A M, Vasen, H F A, Verhoef, S, Rookus, M A, Hooning, M J
Published in JNCI : Journal of the National Cancer Institute (01.05.2015)
Published in JNCI : Journal of the National Cancer Institute (01.05.2015)
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Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome
Gómez García, E. B., Lobbes, M. B. I., van de Vijver, K., Keymeulen, K., van der Ent, F., Yntema, H. G., Tjan-Heijnen, V. C., Boetes, C.
Published in Case reports in radiology (01.01.2012)
Published in Case reports in radiology (01.01.2012)
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Levels of vitamin K-dependent procoagulant and anticoagulant proteins in over-anticoagulated patients
Penning-van Beest, F J, Gómez García, E B, van der Meer, F J, van Meegen, E, Rosendaal, F R, Stricker, B H
Published in Blood coagulation & fibrinolysis (01.12.2002)
Published in Blood coagulation & fibrinolysis (01.12.2002)
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A white raven detected by imaging
Baur, L.H.B., Schreurs, W.M.J., van Leeuwen-Wintjes, H.R., Berendsen, C.L., Willems, R., Winkens, R.A.G., Vliegen, R., Theunissen, P., Gomez Garcia, E.B.
Published in Netherlands heart journal (01.07.2015)
Published in Netherlands heart journal (01.07.2015)
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TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
Ruijs, Marielle W G, Verhoef, Senno, Rookus, Matti A, Pruntel, Roelof, van der Hout, Annemarie H, Hogervorst, Frans B L, Kluijt, I, Sijmons, Rolf H, Aalfs, Cora M, Wagner, Anja, Ausems, Margreet G E M, Hoogerbrugge, Nicoline, van Asperen, Christi J, Gomez Garcia, Encarna B, Meijers-Heijboer, Hanne, ten Kate, Leo P, Menko, Fred H, van 't Veer, Laura J
Published in Journal of medical genetics (01.06.2010)
Published in Journal of medical genetics (01.06.2010)
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Cancer risks in BRCA2 families: estimates for sites other than breast and ovary
van Asperen, C J, Brohet, R M, Meijers-Heijboer, E J, Hoogerbrugge, N, Verhoef, S, Vasen, H F A, Ausems, M G E M, Menko, F H, Gomez Garcia, E B, Klijn, J G M, Hogervorst, F B L, van Houwelingen, J C, van’t Veer, L J, Rookus, M A, van Leeuwen, F E
Published in Journal of medical genetics (01.09.2005)
Published in Journal of medical genetics (01.09.2005)
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Hypercoagulability states in upper‐extremity deep venous thrombosis
Leebeek, F.W.G., Stadhouders, N.A.M., van Stein, D., Gómez‐García, E.B., Kappers‐Klunne, M.C.
Published in American journal of hematology (01.05.2001)
Published in American journal of hematology (01.05.2001)
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Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)
Nielsen, M, Franken, P F, Reinards, T H C M, Weiss, M M, Wagner, A, van der Klift, H, Kloosterman, S, Houwing-Duistermaat, J J, Aalfs, C M, Ausems, M G E M, Bröcker-Vriends, A H J T, Gomez Garcia, E B, Hoogerbrugge, N, Menko, F H, Sijmons, R H, Verhoef, S, Kuipers, E J, Morreau, H, Breuning, M H, Tops, C M J, Wijnen, J T, Vasen, H F A, Fodde, R, Hes, F J
Published in Journal of medical genetics (01.09.2005)
Published in Journal of medical genetics (01.09.2005)
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