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Page 1
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.
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, Ploos van Amstel JK, Prigoda-Lee N, Pyeritz RE, Reardon W, Vandezande K, Waldman JD, White RI Jr, Williams CA, Marchuk DA. Gallione C, et al. Among authors: ploos van amstel jk. Am J Med Genet A. 2010 Feb;152A(2):333-9. doi: 10.1002/ajmg.a.33206. Am J Med Genet A. 2010. PMID: 20101697
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.
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
Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans.
Kawasaki K, Freimuth J, Meyer DS, Lee MM, Tochimoto-Okamoto A, Benzinou M, Clermont FF, Wu G, Roy R, Letteboer TG, Ploos van Amstel JK, Giraud S, Dupuis-Girod S, Lesca G, Westermann CJ, Coffey RJ Jr, Akhurst RJ. Kawasaki K, et al. Among authors: ploos van amstel jk. Proc Natl Acad Sci U S A. 2014 May 27;111(21):7723-8. doi: 10.1073/pnas.1318761111. Epub 2014 May 8. Proc Natl Acad Sci U S A. 2014. PMID: 24812125 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.
37 results