Zobrazeno 1 - 10 of 42 pro vyhledávání: '"Irma Kluijt"'
1
Kennisagenda Bedrijfs- en Verzekeringsgeneeskunde
Autor: Peter Coffeng, Birgit Donker – Cools, Lianne Schouten, Irma Kluijt, Heike Jansen, Marloes Mazliah de Vries, Frederieke G. Schaafsma, Sylvia van der Burg – Vermeulen, Arnold Schriemer
Publikováno v: Tijdschrift voor Bedrijfs-en Verzekeringsgeneeskunde, 28(9), 39-41. Bohn Stafleu van Loghum
Tijdschrift voor bedrijfs-en verzekeringsgeneeskunde, 28(9), 39-41. Bohn Stafleu van Loghum
Jansen, H, van der Burg – Vermeulen, S, Schriemer, A, Donker – Cools, B, Schaafsma, F, Kluijt, I, Schouten, L, Mazliah-de Vries, M & Coffeng, P 2020, ' Kennisagenda Bedrijfs-en Verzekeringsgeneeskunde ', Tijdschrift voor Bedrijfs-en Verzekeringsgeneeskunde, vol. 28, no. 9, pp. 39-41 . https://doi.org/10.1007/s12498-020-1277-y
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c755590fd1de18d37b63ca159ea4212d
https://research.vumc.nl/en/publications/c554686a-dc22-4d08-b7dc-28bc58f53ee1
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2
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence
Autor: Inge B. Mathijssen, J. Patrick van der Voorn, Erik A. Sistermans, Margriet Smit, Eveline W Blom, Marjan M. Weiss, Irma Kluijt, Alexander J. Groffen, Marleen A. Hagen, M Brigita Tan-Sindhunata, Johanna I.P. de Vries, Hanne Meijers-Heijboer, Quinten Waisfisz, Frank Baas
Publikováno v: Tan-Sindhunata, M B, Matthijssen, I B, Smit, M, Baas, F, de Vries, J I P, van der Voorn, J P, Kluijt, I, Hagen, M A, Blom, E W, Sistermans, E A, Heijboer-Meijers, J E, Waisfisz, Q, Weiss, M M & Groffen, A J A 2015, ' Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. ', European Journal of Human Genetics, vol. 23, no. 9, pp. 1151-1157 . https://doi.org/10.1038/ejhg.2014.273
European Journal of Human Genetics, 23(9), 1151-1157. Nature Publishing Group
European journal of human genetics, 23(9), 1151-1157. Nature Publishing Group
European Journal of Human Genetics
Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPS
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4be1a2be79bf1dec228ae5749caf427
https://doi.org/10.1038/ejhg.2014.273
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3
Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire: development and testing of a screening questionnaire for use in clinical cancer genetics
Autor: Willem Eijzenga, Eveline M. A. Bleiker, Grace N. Sidharta, Irma Kluijt, Chad M. Gundy, Neil K. Aaronson, Daniela E E Hahn
Publikováno v: Psycho-Oncology. 23:862-869
Background: Up to three-quarters of individuals who undergo cancer genetic counseling and testing report psychosocial problems specifically related to that setting. The objectives of this study were to develop and evaluate the screening properties of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cca19a5454a04e59a959816d19a6b487
https://doi.org/10.1002/pon.3485
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4
Het Bloom-syndroom in Nederland
Autor: Anja Wagner, Emilia Bijlsma, Danny Zwijnenburg, Alida Knegt, Hendrik Boot, Johannes H. M. Merks, M.H.D. Schoenaker, Saskia Hopman, V. Langenhorst, Corry M.R. Weemaes, Johanna Verheij, Irma Kluijt, E. Michiels, Kyra Stuurman
Publikováno v: Tijdschrift voor Kindergeneeskunde. 81:148-158
Aim. To describe the clinical and molecular genetic characteristics of Bloom syndrome (BS) patients in the Netherlands, in comparison with the international Bloom syndrome cohort as described in the Bloom's Syndrome Registry (BSR). Patients. For this
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fed672cc11f2563d37e5222f1727bdcc
https://doi.org/10.1007/s12456-013-0178-8
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5
Specific Psychosocial Issues of Individuals Undergoing Genetic Counseling for Cancer – A Literature Review
Autor: Neil K. Aaronson, Eveline M. A. Bleiker, Irma Kluijt, Daniela E E Hahn, Willem Eijzenga
Publikováno v: Journal of Genetic Counseling, 23(2), 133-146. Kluwer Academic/Human Sciences Press Inc.
Approximately 25 % of individuals undergoing genetic counseling for cancer experiences clinically relevant levels of distress, anxiety and/or depression. However, these general psychological outcomes that are used in many studies do not provide detai
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b0cbbe0d9afb2c272b2a5e61e95c881
https://doi.org/10.1007/s10897-013-9649-4
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6
Risks of Less Common Cancers in Proven Mutation Carriers With Lynch Syndrome
Autor: Verena Steinke, Nicoline Hoogerbrugge, Magnus von Knebel Doeberitz, Rolf H. Sijmons, Encarna B. Gomez Garcia, Markus Loeffler, Wolff Schmiegel, Elke Holinski-Feder, Reinhard Buettner, Frederik J. Hes, Christoph Engel, Hans K. Schackert, Nils Rahner, Gabriela Moeslein, Theo A. M. van Os, Fred H. Menko, Timm O. Goecke, Tom G.W. Letteboer, Irma Kluijt, Hans F. A. Vasen, Heike Goergens, Wolfgang Dietmaier, Peter Propping, Anja Wagner
Publikováno v: Journal of Clinical Oncology, 30(35), 4409-4415. American Society of Clinical Oncology
Journal of Clinical Oncology, 30, 35, pp. 4409-15
Journal of Clinical Oncology, 30(35), 4409-4415. AMER SOC CLINICAL ONCOLOGY
Journal of clinical oncology, 30(35), 4409-4415. American Society of Clinical Oncology
Engel, C, Loeffler, M, Steinke, V, Rahner, N, Holinski-Feder, E, Dietmaier, W, Schackert, H K, Goergens, H, Doeberitz, M V, Goecke, T O, Schmiegel, W, Buettner, R, Moeslein, G, Letteboer, T G W, Garcia, E G, Hes, F J, Hoogerbrugge, N, Menko, F H, van Os, T A M, Sijmons, RH, Wagner, A, Kluijt, I, Propping, P & Vasen, H F A 2012, ' Risks of Less Common Cancers in Proven Mutation Carriers With Lynch Syndrome ', Journal of Clinical Oncology, vol. 30, no. 35, pp. 4409-4415 . https://doi.org/10.1200/JCO.2012.43.2278
Journal of Clinical Oncology, 30, 4409-15
Purpose Patients with Lynch syndrome are at high risk for colon and endometrial cancer, but also at an elevated risk for other less common cancers. The purpose of this retrospective cohort study was to provide risk estimates for these less common can
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f25cd7e8aa57a5c598f691d60e4bfc9
https://research.rug.nl/en/publications/7d4d84be-11c9-49cb-bc84-b1d2a322def6
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7
Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance
Autor: Irma, Kluijt, Rolf H, Sijmons, Nicoline, Hoogerbrugge, John T, Plukker, Daphne, de Jong, J Han, van Krieken, Richard, van Hillegersberg, Marjolijn, Ligtenberg, Eveline, Bleiker, Anemieke, Cats, E, Bleiker
Publikováno v: Familial Cancer, 11, 363-9
Familial Cancer, 11, 3, pp. 363-9
Familial cancer, 11(3), 363-369. Springer Netherlands
Familial Cancer, 11(3), 363-369. SPRINGER
Contains fulltext : 107891.pdf (Publisher’s version ) (Closed access) Hereditary diffuse gastric cancer (HDGC) is a relatively rare disorder, with a mutated CDH1 gene as the only known cause. Carriers of a germline mutation in CDH1 have a lifetime
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e83878b8765096f0fa579342a48f1341
https://doi.org/10.1007/s10689-012-9521-y
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8
CDH1-related hereditary diffuse gastric cancer syndrome: Clinical variations and implications for counseling
Autor: Ester J. M. Siemerink, Richard van Hillegersberg, Daphne de Jong, Carla Oliveira, Evelien Dekker, Margreet G. E. M. Ausems, J. Han van Krieken, Joana Figueiredo, Rolf H. Sijmons, Joana Simões-Correia, Annemieke Cats, Irma Kluijt, Marjolijn J. L. Ligtenberg, Theo A. M. van Os, Nicoline Hoogerbrugge, Els van Riel, John T. M. Plukker
Publikováno v: International Journal of Cancer, 131, 367-76
Kluijt, I, Siemerink, E J M, Ausems, M G E M, van Os, T A M, de Jong, D, Simoes-Correia, J, van Krieken, J H, Ligtenberg, M J, Figueiredo, J, van Riel, E, Sijmons, RH, Plukker, J T M, van Hillegersberg, R, Dekker, E, Oliveira, C, Cats, A & Hoogerbrugge, N 2012, ' CDH1-related hereditary diffuse gastric cancer syndrome: Clinical variations and implications for counseling ', International Journal of Cancer, vol. 131, no. 2, pp. 367-376 . https://doi.org/10.1002/ijc.26398
International Journal of Cancer, 131(2), 367-376. Wiley
International journal of cancer. Journal international du cancer, 131(2), 367-376. Wiley-Liss Inc.
International Journal of Cancer, 131(2), 367-376. Wiley-Liss Inc.
International Journal of Cancer, 131, 2, pp. 367-76
Contains fulltext : 110453.pdf (Publisher’s version ) (Closed access) CDH1 mutation carriers have a strongly increased risk of developing gastric cancer (GC) and lobular breast cancer (LBC). Clinical data of GC cases and surgical and histological d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8a98f9335c906ac9e2a28db81df51f7
https://doi.org/10.1002/ijc.26398
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9
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
Autor: Tsun Leung Chan, Eugène T P Verwiel, Irma Kluijt, Diana Eccles, Rolf H. Sijmons, Egbert J.W. Redeker, Rachel S. van der Post, Encarna B. Gomez Garcia, Reinhard Büttner, Cora M. Aalfs, Roland P. Kuiper, Johan J.P. Gille, Bernadette P M van Nesselrooij, Frans B. L. Hogervorst, Marjolijn J L Ligtenberg, Tracy Graham, Julie O. Culver, Edith Olah, Monique Goossens, Carli M. J. Tops, Elke Holinski-Feder, David J. Bunyan, Marielle E. van Gijn, Frederik J. Hes, Suet Yi Leung, Pierre O. Chappuis, Monika Morak, Edward M Leter, Nils Rahner, Lea Velsher, János Papp, Renee C. Niessen, J. Han van Krieken, Lambertus A. Kiemeney, Ad Geurts van Kessel, Charlotte W. Ockeloen, Nicoline Hoogerbrugge, Marlies Kempers, Iris D. Nagtegaal, Verena Steinke, Hans K. Schackert, Matthias Kloor, Melanie R. Palomares, Sapna Syngal, Pierre Hutter, Elena M. Stoffel
Publikováno v: Kempers, M J E, Kuiper, R P, Ockeloen, C W, Chappuis, P O, Hutter, P, Rahner, N, Schackert, H K, Steinke, V, Holinski-Feder, E, Morak, M, Kloor, M, Buttner, R, Verwiel, E T P, van Krieken, J H, Nagtegaal, I D, Goossens, M, van der Post, R S, Niessen, R C, Sijmons, RH, Kluijt, I, Hogervorst, F B L, Leter, E M, Gille, J J P, Aalfs, C M, Redeker, E J W, Hes, F J, Tops, C M J, van Nesselrooij, B P M, van Gijn, M E, Garcia, E B G, Eccles, D M, Bunyan, D J, Syngal, S, Stoffel, E M, Culver, J O, Palomares, M R, Graham, T, Velsher, L, Papp, J, Olah, E, Chan, T L, Leung, S Y, van Kessel, A G, Kiemeney, L A L M, Hoogerbrugge, N & Ligtenberg, M J L 2011, ' Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study ', Lancet Oncology, vol. 12, no. 1, pp. 49-55 . https://doi.org/10.1016/S1470-2045(10)70265-5
The Lancet Oncology, 49-55
STARTPAGE=49;ENDPAGE=55;TITLE=The Lancet Oncology
Lancet Oncology, 12, 1, pp. 49-55
Lancet oncology, 12(1), 49-55. Elsevier Science
Lancet Oncology, 12, 49-55
lancet oncology, 12(1), 49-55. Lancet Publishing Group
Lancet Oncology, 12(1), 49-55. ELSEVIER SCIENCE INC
Lancet Oncology, 12(1), 49-55. Lancet Publishing Group
Summary Background Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6 , and PMS2 mismatch-repair genes and leads to a high risk of colorectal and endometrial cancer. We previously showed that constitutional 3′ end deletions of EPCAM
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85f4a39c0f97e31d38f52cdcda56a8a1
https://hdl.handle.net/2066/97324
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10
Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences
Autor: Senno Verhoef, Tanja Nagtegaal, Liesbeth Spruijt, C. R. M. Lammens, Rolf H. Sijmons, Annette H. J. T. Vriends, Eveline M. A. Bleiker, Irma Kluijt, Margreet G. E. M. Ausems, Marielle W. G. Ruijs, Encarna B. Gomez Garcia, Neil K. Aaronson, Theo A. M. van Os, Anja Wagner
Publikováno v: Lammens, C R M, 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, Kluijt, I, Nagtegaal, T, Verhoef, S & Bleiker, E M A 2010, ' Genetic Testing in Li-Fraumeni Syndrome: Uptake and Psychosocial Consequences ', Journal of Clinical Oncology, vol. 28, no. 18, pp. 3008-3014 . https://doi.org/10.1200/JCO.2009.27.2112
Journal of Clinical Oncology, 28(18), 3008-3014. American Society of Clinical Oncology
Journal of clinical oncology, 28(18), 3008-3014. American Society of Clinical Oncology
Journal of Clinical Oncology, 28(18), 3008-3014
Journal of Clinical Oncology, 28(18), 3008-3014. AMER SOC CLINICAL ONCOLOGY
Journal of Clinical Oncology, 28, 3008-14
Journal of Clinical Oncology, 28, 18, pp. 3008-14
Purpose Li-Fraumeni syndrome (LFS) is a hereditary cancer syndrome, characterized by a high risk of developing cancer at various sites and ages. To date, limited clinical benefits of genetic testing for LFS have been demonstrated, and there are conce
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cca825146ba670b652e7ccf104f61c3
https://doi.org/10.1200/JCO.2009.27.2112
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