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Page 1
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
Wurfbain LF, Cox IL, van Dooren MF, Lachmeijer AMA, Verhoeven VJM, van Hagen JM, Heijligers M, Klein Wassink-Ruiter JS, Koene S, Maas SM, Veenstra-Knol HE, Ploos van Amstel JK, Massink MPG, Mink van der Molen AB, van den Boogaard MH. Wurfbain LF, et al. Among authors: ploos van amstel jk. Mol Syndromol. 2023 Aug;14(4):270-282. doi: 10.1159/000530256. Epub 2023 Jun 8. Mol Syndromol. 2023. PMID: 37589029 Free PMC article.
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Olde Keizer RACM, Marouane A, Kerstjens-Frederikse WS, Deden AC, Lichtenbelt KD, Jonckers T, Vervoorn M, Vreeburg M, Henneman L, de Vries LS, Sinke RJ, Pfundt R, Stevens SJC, Andriessen P, van Lingen RA, Nelen M, Scheffer H, Stemkens D, Oosterwijk C, van Amstel HKP, de Boode WP, van Zelst-Stams WAG, Frederix GWJ, Vissers LELM; RADICON-NL consortium. Olde Keizer RACM, et al. Eur J Pediatr. 2023 Jun;182(6):2683-2692. doi: 10.1007/s00431-023-04909-1. Epub 2023 Mar 31. Eur J Pediatr. 2023. PMID: 36997769 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.
Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18.
Hochstenbach R, Page-Christiaens GC, van Oppen AC, Lichtenbelt KD, van Harssel JJ, Brouwer T, Manten GT, van Zon P, Elferink M, Kusters K, Akkermans O, Ploos van Amstel JK, Schuring-Blom GH. Hochstenbach R, et al. Among authors: ploos van amstel jk. Case Rep Genet. 2015;2015:926545. doi: 10.1155/2015/926545. Epub 2015 Jun 7. Case Rep Genet. 2015. PMID: 26137330 Free PMC article.
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.
Variability in dentofacial phenotypes in four families with WNT10A mutations.
Vink CP, Ockeloen CW, ten Kate S, Koolen DA, Ploos van Amstel JK, Kuijpers-Jagtman AM, van Heumen CC, Kleefstra T, Carels CE. Vink CP, et al. Among authors: ploos van amstel jk. Eur J Hum Genet. 2014 Sep;22(9):1063-70. doi: 10.1038/ejhg.2013.300. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398796 Free PMC article.
37 results