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The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.
J Hepatol. 2004 Nov;41(5):758-63. doi: 10.1016/j.jhep.2004.07.017.
J Hepatol. 2004.
PMID: 15519648
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
Sjarif DR, Hellerud C, van Amstel JK, Kleijer WJ, Sperl W, Lacombe D, Sass JO, Beemer FA, Duran M, Poll-The BT.
Sjarif DR, et al. Among authors: van amstel jk.
Eur J Hum Genet. 2004 Jun;12(6):424-32. doi: 10.1038/sj.ejhg.5201172.
Eur J Hum Genet. 2004.
PMID: 15026783
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Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.
Brooimans RA, van den Berg AJ, Rijkers GT, Sanders LA, van Amstel JK, Tilanus MG, Grubben MJ, Zegers BJ.
Brooimans RA, et al. Among authors: van amstel jk.
J Med Genet. 1997 Jun;34(6):484-8. doi: 10.1136/jmg.34.6.484.
J Med Genet. 1997.
PMID: 9192269
Free PMC article.
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Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.
László A, Török L, Raffai S, Török E, Sallay E, Endreffy E, Morvai L, van Amstel JK.
László A, et al. Among authors: van amstel jk.
Ideggyogy Sz. 2012 Jan 30;65(1-2):35-9.
Ideggyogy Sz. 2012.
PMID: 22338844
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A CCA/CCG neutral dimorphism in the codon for Pro 626 of the human protein S gene PS alpha (PROS1).
Diepstraten CM, van Amstel JK, Reitsma PH, Bertina RM.
Diepstraten CM, et al. Among authors: van amstel jk.
Nucleic Acids Res. 1991 Sep 25;19(18):5091. doi: 10.1093/nar/19.18.5091.
Nucleic Acids Res. 1991.
PMID: 1923788
Free PMC article.
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Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis.
Olde Keizer RACM, Marouane A, Deden AC, van Zelst-Stams WAG, de Boode WP, Keusters WR, Henneman L, van Amstel JKP, Frederix GWJ, Vissers LELM.
Olde Keizer RACM, et al. Among authors: van amstel jkp.
Eur J Med Genet. 2022 May;65(5):104467. doi: 10.1016/j.ejmg.2022.104467. Epub 2022 Mar 1.
Eur J Med Genet. 2022.
PMID: 35240323
Free article.
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Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14.
Letteboer TG, Benzinou M, Merrick CB, Quigley DA, Zhau K, Kim IJ, To MD, Jablons DM, van Amstel JK, Westermann CJ, Giraud S, Dupuis-Girod S, Lesca G, Berg JH, Balmain A, Akhurst RJ.
Letteboer TG, et al. Among authors: van amstel jk.
Front Genet. 2015 Mar 12;6:67. doi: 10.3389/fgene.2015.00067. eCollection 2015.
Front Genet. 2015.
PMID: 25815003
Free PMC article.
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Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.
Benzinou M, Clermont FF, Letteboer TG, Kim JH, Espejel S, Harradine KA, Arbelaez J, Luu MT, Roy R, Quigley D, Higgins MN, Zaid M, Aouizerat BE, van Amstel JK, Giraud S, Dupuis-Girod S, Lesca G, Plauchu H, Hughes CC, Westermann CJ, Akhurst RJ.
Benzinou M, et al. Among authors: van amstel jk.
Nat Commun. 2012 Jan 10;3:616. doi: 10.1038/ncomms1633.
Nat Commun. 2012.
PMID: 22233626
Free PMC article.
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