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A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH. Oud MM, et al. Among authors: arts hh. Cilia. 2016 Apr 11;5:8. doi: 10.1186/s13630-016-0029-1. eCollection 2016. Cilia. 2016. PMID: 27069622 Free PMC article.
Ciliopathies: Genetics in Pediatric Medicine.
Oud MM, Lamers IJ, Arts HH. Oud MM, et al. Among authors: arts hh. J Pediatr Genet. 2017 Mar;6(1):18-29. doi: 10.1055/s-0036-1593841. Epub 2016 Nov 10. J Pediatr Genet. 2017. PMID: 28180024 Free PMC article. Review.
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
Oud MM, van Bon BW, Bongers EM, Hoischen A, Marcelis CL, de Leeuw N, Mol SJ, Mortier G, Knoers NV, Brunner HG, Roepman R, Arts HH. Oud MM, et al. Among authors: arts hh. Am J Med Genet A. 2014 Jul;164A(7):1627-34. doi: 10.1002/ajmg.a.36501. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24677454 Review.
Medical genetics of ciliopathies.
Mans DA, Arts HH. Mans DA, et al. Among authors: arts hh. J Pediatr Genet. 2014 Nov;3(2):47-48. doi: 10.3233/PGE-14087. J Pediatr Genet. 2014. PMID: 25530910 Free PMC article. No abstract available.
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R. Arts HH, et al. J Med Genet. 2011 Jun;48(6):390-5. doi: 10.1136/jmg.2011.088864. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378380
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
Farhan SMK, Nixon KCJ, Everest M, Edwards TN, Long S, Segal D, Knip MJ, Arts HH, Chakrabarti R, Wang J, Robinson JF, Lee D, Mirsattari SM, Rupar CA, Siu VM; FORGE Canada Consortium; Poulter MO, Hegele RA, Kramer JM. Farhan SMK, et al. Among authors: arts hh. Hum Mol Genet. 2017 Nov 1;26(21):4278-4289. doi: 10.1093/hmg/ddx316. Hum Mol Genet. 2017. PMID: 28973161 Free PMC article.
Focus on molecules: RPGRIP1.
Arts HH, Cremers FP, Knoers NV, Roepman R. Arts HH, et al. Exp Eye Res. 2009 Mar;88(3):332-3. doi: 10.1016/j.exer.2008.03.019. Epub 2008 Apr 8. Exp Eye Res. 2009. PMID: 18538322 No abstract available.
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG. Gilissen C, et al. Among authors: arts p, arts hh. Am J Hum Genet. 2010 Sep 10;87(3):418-23. doi: 10.1016/j.ajhg.2010.08.004. Am J Hum Genet. 2010. PMID: 20817137 Free PMC article.
44 results