Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Dietje E. Fransen van de Putte"'
Autor:
Roseline d'Oiron, Ellen Laan, Karin P M van Galen, Eveline P. Mauser-Bunschoten, Lotte Haverman, Manon E L Degenaar, Dietje E. Fransen van de Putte, Rezan A. Kadir, Petra Elfvinge, Lorynn Teela
Publikováno v:
Haemophilia, 27(3), 463-469. Wiley-Blackwell
Haemophilia
Haemophilia
Introduction Multidisciplinary management of women‐specific bleeding is important to preserve quality of life, healthy reproduction and social participation of women and girls with bleeding disorders (WBD). Aim To support appropriate multidisciplin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8d7f88b0d9cd7e44efe09849b356c75
https://doi.org/10.1111/hae.14221
https://doi.org/10.1111/hae.14221
Autor:
Regina Bökenkamp-Gramann, Daniela Q.C.M. Barge-Schaapveld, Monique Williams, Julie W. Rutten, Karin van der Tuin, Esther A. R. Nibbeling, Claudia A. L. Ruivenkamp, Sylke J. Steggerda, Laura Donker Kaat, Dietje E. Fransen van de Putte, Remco van Doorn, Marjolein Kriek, Ruben S G M Witlox, Maartje van Rij, Cacha M.P.C.D. Peeters-Scholte, Arie van Haeringen, Thomas P. Potjer, Emilia K. Bijlsma, Setareh Moghadasi, Yvette van Ierland, Manon Suerink, Emmelien Aten, Gijs W. E. Santen, Remco Visser, Anne Sophie van der Werf–t Lam, Mariëtte J.V. Hoffer, Marije Koopmans, Pleuntje J. van der Sluijs, Ratna N G B Tan, Nicolette S. den Hollander, Arend D. J. ten Harkel, Yvonne Hilhorst-Hofstee
Publikováno v:
Genetics in Medicine. 21:2159-2164
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Articl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bcea68d20998bde8f8bee4e1a815b939
https://doi.org/10.1038/s41436-018-0363-3
https://doi.org/10.1038/s41436-018-0363-3
Autor:
Setareh Moghadasi, Emilia K. Bijlsma, Remco van Doorn, Monique Williams, Maartje van Rij, Remco Visser, Thomas P. Potjer, Arend D. J. ten Harkel, Yvette van Ierland, Laura Donker Kaat, Emmelien Aten, Daniela Q.C.M. Barge-Schaapveld, Cacha M.P.C.D. Peeters-Scholte, Nicolette S. den Hollander, Ratna N G B Tan, Ruben S G M Witlox, Regina Bökenkamp-Gramann, Julie W. Rutten, Manon Suerink, Marjolein Kriek, Yvonne Hilhorst-Hofstee, Sylke J. Steggerda, Mariëtte J.V. Hoffer, Marije Koopmans, Pleuntje J. van der Sluijs, Anne-Sophie van der Werf –’t Lam, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Dietje E. Fransen van de Putte, Arie van Haeringen, Karin van der Tuin, Esther A. R. Nibbeling
Publikováno v:
Genetics in Medicine, 21(5), 1074-1082. Lippincott Williams & Wilkins
Genetics in Medicine, 21(5), 1074-1082
Genetics in Medicine
Genetics in medicine, 21(5), 1074-1082. Lippincott Williams and Wilkins
Genetics in Medicine, 21(5), 1074-1082
Genetics in Medicine
Genetics in medicine, 21(5), 1074-1082. Lippincott Williams and Wilkins
Purpose: Several studies have reported diagnostic yields up to 57% for rapid exome or genome sequencing (rES/GS) as a single test in neonatal intensive care unit (NICU) patients, but the additional yield of rES/GS compared with other available diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1be1375788cf6ae5d4c97f805a4d15f1
https://hdl.handle.net/1765/110952
https://hdl.handle.net/1765/110952
Autor:
Renske E. Blom, Karel J. van Erpecum, Claudia Verveer, Hanneke van Soest, Robert E. de Knegt, Joop E. Arends, Dietje E. Fransen van de Putte, Eveline P. Mauser-Bunschoten, Marco W. Mundt
Publikováno v:
Annals of Hepatology, Vol 10, Iss 4, Pp 469-476 (2011)
Background. Liver stiffness measurement (LSM) using Fibroscan® is an increasingly popular non-invasive me¬thod for quantifying liver fibrosis in patients with chronic viral hepatitis. We aimed to explore potential im¬pact of Fibroscan® on clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d55853b83c33689ab071c221d4f2522
https://doi.org/10.1016/s1665-2681(19)31514-5
https://doi.org/10.1016/s1665-2681(19)31514-5
Autor:
Ai Zhang, Dietje E. Fransen van de Putte, Richard van Wijk, Sylke J. Steggerda, Lynne M. Ball, Inge L. van Kamp, Phebe N. Adama van Scheltema
Publikováno v:
Clinical case reports, 3(10), 862. John Wiley and Sons Ltd
Clinical Case Reports, 3(10), 862-865
Clinical Case Reports
Clinical Case Reports, 3(10), 862-865
Clinical Case Reports
Key Clinical Message Hemolytic anemia due to GPI deficiency can be severe and life threatening during fetal life. When parents decline invasive testing, ultrasound monitoring of fetuses at risk is feasible. Intrauterine transfusion can be effective f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36c143dd6677f34a7b9cf73a95a7954d
https://dspace.library.uu.nl/handle/1874/350337
https://dspace.library.uu.nl/handle/1874/350337
Autor:
Dietje E. Fransen van de Putte, Michael Makris, Dirk Posthouwer, Krista Fischer, David Patch, Lisa Kirk, Thynn Thynn Yee, Eveline P. Mauser-Bunschoten, Karel J. van Erpecum
Publikováno v:
Journal of Hepatology, 60(1), 39-45. Elsevier Science
Background & Aims: Patients with inherited bleeding disorders are an interesting group to study the long-term course of chronic hepatitis C virus (HCV) infection, because of their uniform mode of infection and reliable follow-up. Our aim was to asses
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9363b501de9c1c3af32c1965f66e1d8d
https://pubmed.ncbi.nlm.nih.gov/23978717
https://pubmed.ncbi.nlm.nih.gov/23978717
Autor:
Michael Makris, Eveline P. Mauser-Bunschoten, Krista Fischer, Peter William Collins, Karina Meijer, Dietje E. Fransen van de Putte, Roger E. G. Schutgens, Goris Roosendaal, Pratima Chowdary, R. Campbell Tait
Publikováno v:
Thrombosis and Haemostasis, 109(1), 16-23. GEORG THIEME VERLAG KG
SummaryCardiovascular disease (CVD) mortality is reported to be decreased in haemophilia patients, but reports on the prevalence of CVD risk factors are conflicting. A cross-sectional assessment of CVD risk profiles was performed in a large cohort of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6e37a99190f6f9dda115c1ddfbc062
https://research.rug.nl/en/publications/488f0513-b763-4f04-b351-3f3e95ae5d22
https://research.rug.nl/en/publications/488f0513-b763-4f04-b351-3f3e95ae5d22
Autor:
Dietje E. Fransen van de Putte, Peter William Collins, Roger E. G. Schutgens, Krista Fischer, Pratima Chowdary, Michael Makris, R. Campbell Tait, Goris Roosendaal, Eveline P. Mauser-Bunschoten, Karina Meijer
Publikováno v:
European Journal of Haematology, 89(4), 336-339. Wiley
Objective Cardiovascular disease (CVD) mortality is reported to be lower in haemophilia patients than in the general population, but information on the occurrence of non-fatal CVD is lacking. The aim of our study was to assess CVD history in a cohort
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec6136f47db3dde35bc27b4ff8e9aa17
https://pubmed.ncbi.nlm.nih.gov/22775476
https://pubmed.ncbi.nlm.nih.gov/22775476
Non-fatal cardiovascular disease, malignancies, and other co-morbidity in adult haemophilia patients
Autor:
Astrid E Pulles, Roger E. G. Schutgens, Dietje E. Fransen van de Putte, Eveline P. Mauser-Bunschoten, Douwe H. Biesma, Goris Roosendaal, Krista Fischer
Publikováno v:
Thrombosis research. 130(2)
Introduction With increasing life expectancy, more haemophilia patients will be confronted with age-related problems. To ensure optimal care, it is important to know the occurrence of both fatal and non-fatal cardiovascular disease, malignancies and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b297cb6bf7c72fd66710016d8cdd8f5b
https://pubmed.ncbi.nlm.nih.gov/22209337
https://pubmed.ncbi.nlm.nih.gov/22209337
Autor:
Dietje E. Fransen van de Putte, Jan Maarten Cobben, Marjo S. van der Knaap, D. Wittebol-Post, R. A. J. Nievelstein, Saskia M. Maas, Dick Lindhout, Jacques E.E. De Nef, Hester Y. Kroes, Onno van Nieuwenhuizen, Richard J. Sinke, Mei Lan Kwee, Grazia M.S. Mancini, Patrick H.A. van Zon, Marcel R. Nelen
Publikováno v:
European Journal of Medical Genetics, 51(1), 24-34. Elsevier Masson
European journal of medical genetics, 51(1), 24-34. Elsevier Masson SAS
European Journal of Medical Genetics, 51(1), 24-34. Elsevier Masson SAS
Kroes, H Y, van Zon, P H A, de Putte, D F V, Nelen, M R, Nievelstein, R J, Wittebol-Post, D, Van Nieuwenhulzen, O, Mancini, G M S, van der Knaap, M O S, Kwee, M L, Maas, S M, Cobben, J M, De Nef, J E E, Lindhout, D & Sinke, R J 2008, ' DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands ', European Journal of Medical Genetics, vol. 51, no. 1, pp. 24-34 . https://doi.org/10.1016/j.ejmg.2007.10.001
European journal of medical genetics, 51(1), 24-34. Elsevier Masson SAS
European Journal of Medical Genetics, 51(1), 24-34. Elsevier Masson SAS
Kroes, H Y, van Zon, P H A, de Putte, D F V, Nelen, M R, Nievelstein, R J, Wittebol-Post, D, Van Nieuwenhulzen, O, Mancini, G M S, van der Knaap, M O S, Kwee, M L, Maas, S M, Cobben, J M, De Nef, J E E, Lindhout, D & Sinke, R J 2008, ' DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands ', European Journal of Medical Genetics, vol. 51, no. 1, pp. 24-34 . https://doi.org/10.1016/j.ejmg.2007.10.001
Joubert syndrome (JBS) is a clinically variable and genetically heterogeneous developmental brain disorder with autosomal recessive inheritance. Five genes, AHI1, NPHP1, CEP290, MKS3, and RPGRIPIL, and two additional loci on chromosome 9 and I I have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2b79d389452f530a4a5f772f072afac
https://pubmed.ncbi.nlm.nih.gov/18054307
https://pubmed.ncbi.nlm.nih.gov/18054307