Ploos Van Amstel JK - Search Results

1

Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.

Gouw SC, Van Der Bom JG, Van Den Berg HM, Zewald RA, Ploos Van Amstel JK, Mauser-Bunschoten EP. Gouw SC, et al. Among authors: van den berg hm, van der bom jg, ploos van amstel jk. Haemophilia. 2011 Mar;17(2):275-81. doi: 10.1111/j.1365-2516.2010.02420.x. Epub 2010 Nov 11. Haemophilia. 2011. PMID: 21070499

2

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK. Letteboer TG, et al. Among authors: ploos van amstel jk. Hum Genet. 2005 Jan;116(1-2):8-16. doi: 10.1007/s00439-004-1196-5. Epub 2004 Oct 23. Hum Genet. 2005. PMID: 15517393

3

Management of renal cell carcinoma in von Hippel-Lindau disease.

Hes FJ, Slootweg PJ, van Vroonhoven TJ, Hené RJ, Feldberg MA, Zewald RA, Ploos van Amstel JK, Höppener JW, Pearson PL, Lips CJ. Hes FJ, et al. Among authors: van vroonhoven tj, ploos van amstel jk. Eur J Clin Invest. 1999 Jan;29(1):68-75. doi: 10.1046/j.1365-2362.1999.00402.x. Eur J Clin Invest. 1999. PMID: 10092992

4

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

van der Sijs-Bos CJ, Diepstraten CM, Juyn JA, Plaisier M, Giltay JC, van Spronsen FJ, Smit GP, Berger R, Smeitink JA, Poll-The BT, Ploos van Amstel JK. van der Sijs-Bos CJ, et al. Among authors: van spronsen fj, ploos van amstel jk. Hum Hered. 1996 Jul-Aug;46(4):185-90. doi: 10.1159/000154351. Hum Hered. 1996. PMID: 8807319

5

Isolated and contiguous glycerol kinase gene disorders: a review.

Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT. Sjarif DR, et al. Among authors: ploos van amstel jk. J Inherit Metab Dis. 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652. J Inherit Metab Dis. 2000. PMID: 11032329 Review.

6

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.

Bergman AJ, van den Berg IE, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R. Bergman AJ, et al. Among authors: van den berg ie, ploos van amstel jk. Hum Mutat. 1998;12(1):19-26. doi: 10.1002/(SICI)1098-1004(1998)12:1<19::AID-HUMU3>3.0.CO;2-3. Hum Mutat. 1998. PMID: 9633815

7

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, van Zon P, van Lieshout S, Elferink MG, van der Burg M, Vermont CL, van der Zwaag B, Janson E, Cuppen E, Ploos van Amstel JK, van Gijn ME. Nijman IJ, et al. Among authors: van lieshout s, van gijn me, van der zwaag b, van de corput l, van der burg m, van montfrans jm, van zon p, ploos van amstel jk. J Allergy Clin Immunol. 2014 Feb;133(2):529-34. doi: 10.1016/j.jaci.2013.08.032. Epub 2013 Oct 15. J Allergy Clin Immunol. 2014. PMID: 24139496

8

SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia.

Vorselaars VMM, Diederik A, Prabhudesai V, Velthuis S, Vos JA, Snijder RJ, Westermann CJJ, Mulder BJ, Ploos van Amstel JK, Mager JJ, Faughnan ME, Post MC. Vorselaars VMM, et al. Among authors: ploos van amstel jk. Int J Cardiol. 2017 Oct 15;245:114-118. doi: 10.1016/j.ijcard.2017.06.059. Int J Cardiol. 2017. PMID: 28874282

9

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

Ploos van Amstel JK, Jansen RP, de Jong JG, Hamel BC, Wevers RA. Ploos van Amstel JK, et al. Hum Mol Genet. 1994 Mar;3(3):503-5. doi: 10.1093/hmg/3.3.503. Hum Mol Genet. 1994. PMID: 8012363 No abstract available.

10

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.

van Gijn ME, Soler S, de la Chapelle C, Mulder M, Ritorre C, Kriek M, Philibert L, van der Wielen M, Frenkel J, Grandemange S, Bakker E, Ploos van Amstel JK, Touitou I. van Gijn ME, et al. Among authors: van der wielen m, ploos van amstel jk. Eur J Hum Genet. 2008 Nov;16(11):1404-6. doi: 10.1038/ejhg.2008.135. Epub 2008 Jul 23. Eur J Hum Genet. 2008. PMID: 18648395

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