Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Jan G. Post"'
Autor:
Luc Cozijnsen, Astrid S. Plomp, Jan G. Post, Gerard Pals, Natalija Bogunovic, Kak K. Yeung, Hans W. M. Niessen, Marie‐José T. H. Goumans, Daniela Q. C. M. Barge‐Schaapveld, Dimitra Micha
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Abstract Background Thoracic aortic aneurysms and dissections (TAAD) may have a heritable cause in up to 20% of cases. We aimed to investigate the pathogenic effect of a TGFBR1 mutation in relation to TAAD. Methods Co‐segregation analysis was perfo
Externí odkaz:
https://doaj.org/article/927adda4807d40978d49bc3bb1b09e32
Autor:
Johanna C. Herkert, K. E. Niezen-Koning, Ludolf G. Boven, Marja W. Wessels, Anna Posafalvi, Peter G. J. Nikkels, Paul A. van der Zwaag, J. Peter van Tintelen, Ingrid H van Veen-Hof, Richard J. Rodenburg, Jan G. Post, Maarten P. van den Berg, Jan D. H. Jongbloed, Peter H.G.M. Willems, Judith M.A. Verhagen, Rowida Almomani, Richard J. Sinke, Liesbeth T. Wintjes
Publikováno v:
Journal of Medical Genetics, 57, 23-30
Journal of Medical Genetics, 57, 1, pp. 23-30
JOURNAL OF MEDICAL GENETICS, 57(1), 23-30. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 57(1), 23. BMJ Publishing Group
Journal of Medical Genetics, 57(1), 23-30. BMJ Publishing Group
Journal of Medical Genetics, 57, 1, pp. 23-30
JOURNAL OF MEDICAL GENETICS, 57(1), 23-30. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 57(1), 23. BMJ Publishing Group
Journal of Medical Genetics, 57(1), 23-30. BMJ Publishing Group
BackgroundIdiopathic dilated cardiomyopathy (DCM) is recognised to be a heritable disorder, yet clinical genetic testing does not produce a diagnosis in >50% of paediatric patients. Identifying a genetic cause is crucial because this knowledge can af
Autor:
Janneke C. van den Bergen, Jan G. Post, Jan J.G.M. Verschuuren, Anneke J. van der Kooi, Dave van Heusden, H.B. Ginjaar, Marianne de Visser, Esther Brusse, Nicol C. Voermans, Pieternella F. Ippel, Chiara S. M. Straathof
Publikováno v:
Muscle & Nerve. 53:44-48
Introduction: The phenotype of Becker muscular dystrophy (BMD) is highly variable, and the disease may be underdiagnosed. We searched for new mutations in the DMD gene in a cohort of previously undiagnosed patients who had been referred in the period
Autor:
Eline A. Nannenberg, R. N. W. Hauer, van den Maarten Berg, Jan G. Post, van Isabelle Gelder, A. A. M. Wilde, van Peter Tintelen, I. A. W. Van Rijsingen, Judith A. Groeneweg, R. de Ruiter, van der Paul Zwaag, van der Pim Harst
Publikováno v:
Netherlands Heart Journal
Netherlands heart journal, 21(6), 286-293. Bohn Stafleu van Loghum
Netherlands Heart Journal, 21(6), 286-293. Bohn, Stafleu, Van Loghum
Netherlands heart journal, 21(6), 286-293. Bohn Stafleu van Loghum
Netherlands Heart Journal, 21(6), 286-293. Bohn, Stafleu, Van Loghum
Background Recently, we showed that the c.40_42delAGA (p.Arg14del) mutation in the phospholamban (PLN) gene can be identified in 10–15 % of Dutch patients with dilated cardiomyopathy or arrhythmogenic cardiomyopathy. The arrhythmogenic burden of th
Autor:
Ingrid A.W. van Rijsingen, Ronald H. Lekanne Deprez, Paul A. van der Zwaag, Jan G. Post, Yigal M. Pinto, Maarten P. van den Berg, Judith A. Groeneweg, Richard N.W. Hauer, Hanno L. Tan, Imke Christiaans, Arthur A.M. Wilde, J. Peter van Tintelen, Rudolf A. de Boer, Aeilko H. Zwinderman, Jan D. H. Jongbloed, Eline A. Nannenberg
Publikováno v:
Circulation-Cardiovascular Genetics, 7(4), 455-465. LIPPINCOTT WILLIAMS & WILKINS
Circulation. Cardiovascular genetics, 7(4), 455-465. Lippincott Williams and Wilkins
Circulation. Cardiovascular genetics, 7(4), 455-465. Lippincott Williams and Wilkins
Background— The pathogenic phospholamban R14del mutation causes dilated and arrhythmogenic right ventricular cardiomyopathies and is associated with an increased risk of malignant ventricular arrhythmias and end-stage heart failure. We performed a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50d80877aeaef605cb35a2257da03436
https://research.rug.nl/en/publications/5ae4a333-543f-4edd-b618-bd662396fb87
https://research.rug.nl/en/publications/5ae4a333-543f-4edd-b618-bd662396fb87
Autor:
Tessa Homfray, Jeroen F. van der Heijden, Hennie Bikker, Marcel Mulder, Jan D. H. Jongbloed, Anneke M. van Mil, Judith A. Groeneweg, Arthur A.M. Wilde, Arjan C. Houweling, J. Peter van Tintelen, Jan G. Post, Richard N.W. Hauer, Jasper J. van der Smagt, Amber Ummels, Dennis Dooijes, Arif Elvan
Publikováno v:
Heart rhythm, 11(11), 2010-2017. Elsevier
Heart Rhythm, 11(11), 2010-2017. Elsevier
Groeneweg, J A, Ummels, A, Mulder, M, Bikker, H, van der Smagt, J J, van Mil, A M, Homfray, T, Post, J G, Elvan, A, van der Heijden, J F, Houweling, A C, Jongbloed, J D, Wilde, A A, van Tintelen, J, Hauer, R N & Dooijes, D 2014, ' Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy ', Heart Rhythm, vol. 11, no. 11, pp. 2010-2017 . https://doi.org/10.1016/j.hrthm.2014.07.041
Heart Rhythm, 11(11), 2010-2017. ELSEVIER SCIENCE INC
Heart Rhythm, 11(11), 2010-2017
Heart Rhythm, 11(11), 2010-2017. Elsevier
Groeneweg, J A, Ummels, A, Mulder, M, Bikker, H, van der Smagt, J J, van Mil, A M, Homfray, T, Post, J G, Elvan, A, van der Heijden, J F, Houweling, A C, Jongbloed, J D, Wilde, A A, van Tintelen, J, Hauer, R N & Dooijes, D 2014, ' Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy ', Heart Rhythm, vol. 11, no. 11, pp. 2010-2017 . https://doi.org/10.1016/j.hrthm.2014.07.041
Heart Rhythm, 11(11), 2010-2017. ELSEVIER SCIENCE INC
Heart Rhythm, 11(11), 2010-2017
BACKGROUND Interpretation of genetic screening results in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) often is difficult. Pathogenicity of variants with uncertain clinical significance may be predicted by software algorithms. H
Autor:
Robert M.W. Hofstra, Ying Wu, Rolf H. Sijmons, Tineke van der Sluis, Maran J.W. Berends, Harry Hollema, E Verlind, Claudia Kempinga, Rob G.J. Mensink, Ate G.J. van der Zee, Jan G. Post, Jan H. Kleibeuker, Charles H.C.M. Buys
Publikováno v:
Gastroenterology, 120(7), 1580-1587. W B SAUNDERS CO-ELSEVIER INC
Background & Aims: Germline mutations in one of four mismatch repair genes have been found in the majority of families with hereditary nonpolyposis colorectal cancer (HNPCC), but only in a small part of families with atypical HNPCC. The recently clon
Publikováno v:
Radiotherapy and Oncology. 34:30-38
The aim of this study was to compare functional damage in normal mouse bladder after various initial intravesical therapies and to investigate tolerance to subsequent irradiation. Six consecutive weekly intravesical instillations of Mitomycin C (MMC)
Autor:
P. F. Ippel, Nicol C. Voermans, Jan G. Post, Chiara S. M. Straathof, H.B. Ginjaar, A. J. van der Kooi, Esther Brusse, M. de Visser, D. van Heusden, J.C. van den Bergen, J.J.G. Verschuuren
Publikováno v:
Neuromuscular Disorders. 24:794
The phenotype of Becker muscular dystrophy (BMD) is highly variable, and thus the disorder might be underdiagnosed. In this study we have reviewed the undiagnosed cases among patients referred for suspected BMD in the period 1985–1995. At that time
Publikováno v:
Journal of hepatology. 6(1)
After orthotopic liver transplantation (OLT), not infrequently a deterioration of bone disease leading to compression fractures of vertebrae is seen. In a consecutive series of 36 adult OLT patients, we studied, clinically and radiologically, the inc