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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.
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.
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: 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 Free article.
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: 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
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.
Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.
Knol IE, Ausems MG, Lindhout D, van Diggelen OP, Verwey H, Davies J, Ploos van Amstel JK, Poll-The BT. Knol IE, et al. Among authors: van diggelen op, ploos van amstel jk. Am J Med Genet. 1999 Feb 19;82(5):436-9. doi: 10.1002/(sici)1096-8628(19990219)82:5<436::aid-ajmg14>3.0.co;2-x. Am J Med Genet. 1999. PMID: 10069717
Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RP, Wevers RA, Salvayre R, Levade T. Redonnet-Vernhet I, et al. Among authors: ploos van amstel jk. J Med Genet. 1996 Aug;33(8):682-8. doi: 10.1136/jmg.33.8.682. J Med Genet. 1996. PMID: 8863162 Free PMC article.
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
Sjarif DR, Sinke RJ, Duran M, Beemer FA, Kleijer WJ, Ploos van Amstel JK, Poll-The BT. Sjarif DR, et al. Among authors: ploos van amstel jk. J Med Genet. 1998 Aug;35(8):650-6. doi: 10.1136/jmg.35.8.650. J Med Genet. 1998. PMID: 9719371 Free PMC article.
The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.
Beyer EM, Karpova EA, Udalova OV, Ploos van Amstel JK, van Diggelen OP, Tsvetkova IV. Beyer EM, et al. Among authors: ploos van amstel jk, van diggelen op. Clin Chim Acta. 1999 Feb;280(1-2):81-9. doi: 10.1016/s0009-8981(98)00133-8. Clin Chim Acta. 1999. PMID: 10090526
[Mutation of the alpha-galactosidase A gene in two unusual variations of Fabray's disease].
Beĭer EM, Kopishinskaia SV, Ploos van Amstel JK, Tsvetkova IV. Beĭer EM, et al. Among authors: ploos van amstel jk. Vopr Med Khim. 1999 Jul-Aug;45(4):346-9. Vopr Med Khim. 1999. PMID: 10547886 Russian.
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