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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
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.
Letteboer TG, Mager JJ, Snijder RJ, Koeleman BP, Lindhout D, Ploos van Amstel JK, Westermann CJ. Letteboer TG, et al. Among authors: ploos van amstel jk. J Med Genet. 2006 Apr;43(4):371-7. doi: 10.1136/jmg.2005.035451. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155196 Free PMC article.
SMAD4 mutations found in unselected HHT patients.
Gallione CJ, Richards JA, Letteboer TG, Rushlow D, Prigoda NL, Leedom TP, Ganguly A, Castells A, Ploos van Amstel JK, Westermann CJ, Pyeritz RE, Marchuk DA. Gallione CJ, et al. Among authors: ploos van amstel jk. J Med Genet. 2006 Oct;43(10):793-7. doi: 10.1136/jmg.2006.041517. Epub 2006 Apr 13. J Med Genet. 2006. PMID: 16613914 Free PMC article.
Vascular defects associated with hereditary hemorrhagic telangiectasia revealed in patient-derived isogenic iPSCs in 3D vessels on chip.
Orlova VV, Nahon DM, Cochrane A, Cao X, Freund C, van den Hil F, Westermann CJJ, Snijder RJ, Ploos van Amstel JK, Ten Dijke P, Lebrin F, Mager HJ, Mummery CL. Orlova VV, et al. Among authors: ploos van amstel jk. Stem Cell Reports. 2022 Jul 12;17(7):1536-1545. doi: 10.1016/j.stemcr.2022.05.022. Epub 2022 Jun 30. Stem Cell Reports. 2022. PMID: 35777360 Free PMC article.
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
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.
Ploos van Amstel JK, Bergman AJ, van Beurden EA, Roijers JF, Peelen T, van den Berg IE, Poll-The BT, Kvittingen EA, Berger R. Ploos van Amstel JK, et al. Among authors: van beurden ea, van den berg ie. Hum Genet. 1996 Jan;97(1):51-9. doi: 10.1007/BF00218833. Hum Genet. 1996. PMID: 8557261
37 results