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Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.
Terhal PA, Vlaar JM, Middelkamp S, Nievelstein RAJ, Nikkels PGJ, Ross J, Créton M, Bos JW, Voskuil-Kerkhof ESM, Cuppen E, Knoers N, van Gassen KLI. Terhal PA, et al. Among authors: knoers n. Eur J Hum Genet. 2020 Jan;28(1):31-39. doi: 10.1038/s41431-019-0427-0. Epub 2019 May 14. Eur J Hum Genet. 2020. PMID: 31089205 Free PMC article.
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).
Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G. Monroe GR, et al. Eur J Hum Genet. 2016 Dec;24(12):1752-1760. doi: 10.1038/ejhg.2016.103. Epub 2016 Aug 17. Eur J Hum Genet. 2016. PMID: 27530628 Free PMC article.
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK. Harakalova M, et al. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921. J Med Genet. 2012. PMID: 22889856
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
Identification of human D lactate dehydrogenase deficiency.
Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ. Monroe GR, et al. Among authors: knoers nv. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Eur J Hum Genet. 2012 Jun;20(6):598-606. doi: 10.1038/ejhg.2011.269. Epub 2012 Feb 15. Eur J Hum Genet. 2012. PMID: 22333897 Free PMC article.
Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.
Nicolaou N, Margadant C, Kevelam SH, Lilien MR, Oosterveld MJ, Kreft M, van Eerde AM, Pfundt R, Terhal PA, van der Zwaag B, Nikkels PG, Sachs N, Goldschmeding R, Knoers NV, Renkema KY, Sonnenberg A. Nicolaou N, et al. Among authors: knoers nv. J Clin Invest. 2012 Dec;122(12):4375-87. doi: 10.1172/JCI64100. Epub 2012 Nov 1. J Clin Invest. 2012. PMID: 23114595 Free PMC article.
Further delineation of the GDF6 related multiple synostoses syndrome.
Terhal PA, Verbeek NE, Knoers N, Nievelstein RJAJ, van den Ouweland A, Sakkers RJ, Speleman L, van Haaften G. Terhal PA, et al. Among authors: knoers n. Am J Med Genet A. 2018 Jan;176(1):225-229. doi: 10.1002/ajmg.a.38503. Epub 2017 Nov 12. Am J Med Genet A. 2018. PMID: 29130651
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR. Terhal PA, et al. Among authors: knoers nv. Am J Med Genet A. 2015 Mar;167A(3):461-75. doi: 10.1002/ajmg.a.36922. Epub 2015 Jan 21. Am J Med Genet A. 2015. PMID: 25604898
291 results