Výsledky vyhledávání - "E B, Gomez Garcia"

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

Autor: Jeanine J. Houwing-Duistermaat, Rolf H. Sijmons, Cora M. Aalfs, Nicoline Hoogerbrugge, Marry H. Nieuwenhuis, E. B. Gomez Garcia, Carli M. J. Tops, T. van Wezel, Senno Verhoef, Zeinab Ghorbanoghli, Fred H. Menko, Frederik J. Hes, Tom G.W. Letteboer, Hans F. A. Vasen, Shantie Jagmohan-Changur, Anja Wagner, Juul T. Wijnen

Publikováno v: Familial Cancer, 15(4), 563-570. SPRINGER
Familial Cancer, 15(4), 563–570. Springer Netherlands
Familial cancer, 15(4), 563-570. Springer Netherlands
Familial Cancer
Familial Cancer, 15(4), 563-570. Springer Netherlands
Familial Cancer, 15, 4, pp. 563-70
Familial Cancer, 15, 563-70
Familial Cancer, 15(4), 563-570. Springer, Cham

Contains fulltext : 167193.pdf (Publisher’s version ) (Open Access) Familial adenomatous polyposis (FAP) is a dominantly inherited syndrome caused by germline mutations in the APC gene and characterized by the development of multiple colorectal ade

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54b02251738806fa5aa1f1a8ee1d1856
https://dspace.library.uu.nl/handle/1874/346538

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Is colorectal surveillance indicated in patients with PTEN mutations?

Autor: Karl Heinimann, Susanne Timshel, Shirley Hodgson, Noralane M. Lindor, E. B. Gomez Garcia, Pål Møller, Stefan Aretz, Fiona Douglas, Maran J. W. Olderode-Berends, C. M. Kets, Chrystelle Colas, Hans F. A. Vasen, Maureen Murphy-Ryan, Allan D. Spigelman, Frederik J. Hes, Marry H. Nieuwenhuis

Publikováno v: Colorectal Disease. 14:e562-e566

AIM: Patients with germline phosphatase and tensin homologue (PTEN) mutations develop hamartomatous lesions in several organs and are at increased risk of various malignancies. We assessed the lifetime risk of benign and malignant gastrointestinal le

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fbac7c71e0b57253bda934f640e07c17
https://doi.org/10.1111/j.1463-1318.2012.03121.x

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

Autor: Rita D. Brandão, J. J. T. van Harssel, Aimee D C Paulussen, Marinus J. Blok, E. B. Gomez Garcia, Y. Detisch, Maurice P. Zeegers, C. E. P. van Roozendaal

Publikováno v: Familial Cancer, 9(2), 193-201. Springer, Cham
Familial Cancer

Considerable differences exist amongst countries in the mutation probability methods and thresholds used to select patients for BRCA1/2 genetic screening. In order to assess the added value of mutation probability methods, we have retrospectively cal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64a71f7eff5ecc1a7241f3016c38455c
https://cris.maastrichtuniversity.nl/en/publications/318c2084-ecc3-4ed1-bef5-c9ba38ec3e52

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Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits

Autor: Marielle W. G. Ruijs, Margreet G. E. M. Ausems, T. A. M. van Os, Tanja Nagtegaal, Neil K. Aaronson, Annemieke Cats, Annette H. J. T. Vriends, Senno Verhoef, Rolf H. Sijmons, C. R. M. Lammens, E. M. A. Bleiker, Anja Wagner, Liesbeth Spruijt, E. B. Gomez Garcia

Publikováno v: Familial Cancer, 9(4), 647-654
Familial Cancer, 9(4), 647-654. Springer Netherlands
Familial Cancer, 9, 4, pp. 647-54
Familial Cancer, 9(4), 647-654. SPRINGER
Familial Cancer, 9(4), 647-654. Springer, Cham
Familial Cancer, 9, 647-54
Lammens, C R M, Bleiker, E M A, Aaronson, N K, Wagner, A, Sijmons, RH, Ausems, M G E M, Vriends, A H J T, Ruijs, M W G, van Os, T A M, Spruijt, L, Garcia, E B G, Cats, A, Nagtegaal, T & Verhoef, S 2010, ' Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits ', Familial Cancer, vol. 9, no. 4, pp. 647-654 . https://doi.org/10.1007/s10689-010-9368-z
Familial Cancer
Familial cancer, 9(4), 647-654. Springer Netherlands

Contains fulltext : 89461.pdf (Publisher’s version ) (Closed access) Li Fraumeni Syndrome (LFS) is a hereditary cancer syndrome characterized by a high risk of developing various types of cancer from birth through late adulthood. Clinical benefits

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14bf63ddf0f1f80ee4caf2c299ae6c56
http://www.springerlink.com/content/70845m4373622671/fulltext.pdf

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Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers

Autor: Hans F. A. Vasen, Hanne Meijers-Heijboer, C. J. van Asperen, F.E. van Leeuwen, C. M. Kets, T. A. M. van Os, J. M. Collee, S. Verhoef, M. G. E. M. Ausems, Marian J.E. Mourits, E. B. Gomez Garcia, Matti A. Rookus, Maartje J. Hooning, Caroline Seynaeve, Bernadette A M Heemskerk-Gerritsen, H. C. van Doorn

Publikováno v: JNCI: Journal of the National Cancer Institute, 107(5)
Journal of the National Cancer Institute, 107, 5, pp. pii: djv033-pii: djv033
Journal of the National Cancer Institute, 107(5). Oxford University Press
Journal of the National Cancer Institute, 107(5):033. Oxford University Press
Journal of the National Cancer Institute, 107(5):djv033. Oxford University Press
Journal of the National Cancer Institute, 107, pii: djv033-pii: djv033
Heemskerk-Gerritsen, B A M, Seynaeve, C, van Asperen, C J, Ausems, M G E M, Collee, J M, van Doorn, H C, Garcia, E B G, 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 2015, ' Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction ', Journal of the National Cancer Institute, vol. 107, no. 5, djv033 . https://doi.org/10.1093/jnci/djv033

Item does not contain fulltext BACKGROUND: Previous studies have reported a breast cancer (BC) risk reduction of approximately 50% after risk-reducing salpingo-oophorectomy (RRSO) in BRCA1/2 mutation carriers, but may have been subject to several typ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::362b8bee9c3ecd32427103cbe195fd70
https://doi.org/10.1093/jnci/djv033

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Elevated prothrombin is a risk factor for cerebral arterial ischemia in young adults

Autor: M. P. J. Van Goor, G. J. Brouwers, Diederik W.J. Dippel, E. B. Gomez Garcia, Frank W.G. Leebeek, Peter J. Koudstaal

Publikováno v: Clinical Neurology & Neurosurgery, 104, 285-288. Elsevier

The prevalence of elevated prothrombin (PT) in the absence of the G20210A mutation has not been studied in patients with cerebral ischemia. We carried out a case-control study of PT G20210A and PT activity in 49 adult patients aged 45 years or less,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c71d08f9bd2ce9ba4f84e7481bfa0c8b
https://doi.org/10.1016/s0303-8467(01)00202-5

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Is colorectal surveillance indicated in patients with PTEN mutations?

Autor: M H, Nieuwenhuis, C M, Kets, M, Murphy-Ryan, C, Colas, P, Möller, F J, Hes, S V, Hodgson, M J W, Olderode-Berends, S, Aretz, K, Heinimann, E B, Gomez Garcia, F, Douglas, A, Spigelman, S, Timshel, N M, Lindor, H F A, Vasen

Publikováno v: Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland. 14(9)

Patients with germline phosphatase and tensin homologue (PTEN) mutations develop hamartomatous lesions in several organs and are at increased risk of various malignancies. We assessed the lifetime risk of benign and malignant gastrointestinal lesions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b77cee7863e81e33d51cd1e1b3447776
https://pubmed.ncbi.nlm.nih.gov/22672595

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Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome

Autor: Helger G. Yntema, Carla Boetes, Marc B. I. Lobbes, K.K. Van de Vijver, Vivianne C. G. Tjan-Heijnen, E. B. Gomez Garcia, F. van der Ent, Kristien Keymeulen

Publikováno v: Case Reports in Radiology, ID 638725. Hindawi Publishing Corporation
Case Reports in Radiology
Case Reports in Radiology, 2012, pp. 638725-638725
Case Reports in Radiology, Vol 2012 (2012)
Case Reports in Radiology, 2012, 638725-638725

Contains fulltext : 108891.pdf (Publisher’s version ) (Open Access) Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid,

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https://cris.maastrichtuniversity.nl/en/publications/0db0a2ec-f97b-4ab3-9a09-a0a8e2409b04

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Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress

Autor: R. B. van der Luijt, Neil K. Aaronson, Nicoline Hoogerbrugge, Danielle Majoor-Krakauer, Rolf H. Sijmons, E. B. Gomez Garcia, A. M. W. Van Den Ouweland, Frederik J. Hes, S. Verhoef, Chad M. Gundy, C. R. M. Lammens, Charlotte J. Dommering, E. M. A. Bleiker, Margreet G. E. M. Ausems, T. A. M. van Os

Publikováno v: Clinical Genetics, 77(5), 483-491
Clinical Genetics, 77(5), 483-491. Wiley
Clinical Genetics, 77, 483-91
Clinical genetics, 77(5), 483-491. Wiley-Blackwell
Lammens, C R M, Bleiker, E M A, Verhoef, S, Hes, F J, Ausems, M G E M, Majoor-Krakauer, D, Sijmons, RH, van der Luijt, R B, van den Ouweland, A M W, Van Os, T, Hoogerbrugge, N, Garcia, E B G, Dommering, C J, Gundy, C & Aaronson, N K 2010, ' Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress ', Clinical Genetics, vol. 77, no. 5, pp. 483-491 . https://doi.org/10.1111/j.1399-0004.2009.01333.x
Clinical Genetics, 77(5), 483-491. Wiley-Blackwell
Clinical Genetics, 77(5), 483-491. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 77, 5, pp. 483-91

Contains fulltext : 89552.pdf (Publisher’s version ) (Closed access) Von Hippel-Lindau disease (VHL) is a hereditary tumor susceptibility syndrome, characterized by an increased risk of developing multiple benign and malignant tumors at various sit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c628a07a69d2a3060b865baa7b740b9
https://pubmed.ncbi.nlm.nih.gov/20184621

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

Publikováno v: Journal of Medical Genetics, 42(9). BMJ Publishing Group
Scopus-Elsevier
Journal of Medical Genetics, 42, 9, pp. e54-1-e54
Nielsen, M, Franken, P F, Reinards, T H, Weiss, M M, Wagner, A, van der Klift, H, Kloosterman, S, Houwing-Duistermaat, J J, Aalfs, C M, Ausems, M G, Brocker-Vriends, A H & Gomez Garcia, E B 2005, ' Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP) ', Journal of Medical Genetics, vol. 42, no. 9 . https://doi.org/10.1136/jmg.2005.033217
JOURNAL OF MEDICAL GENETICS, 42(9):54. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 42, e54-1-e54
Journal of medical genetics, 42(9). BMJ Publishing Group

Contains fulltext : 48879.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To investigate the contribution of MYH associated polyposis coli (MAP) among polyposis families in the Netherlands, and the prevalence of colonic and extracolonic manif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e5789231c134443645b429a342f79f9
https://research.vumc.nl/en/publications/a01c0647-c7bb-40a2-ac7c-516a5043704b

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