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Page 1
Identification of candidate regions for a novel Usher syndrome type II locus.
Ben Rebeh I, Benzina Z, Dhouib H, Hadjamor I, Amyere M, Ayadi L, Turki K, Hammami B, Kmiha N, Kammoun H, Hakim B, Charfedine I, Vikkula M, Ghorbel A, Ayadi H, Masmoudi S. Ben Rebeh I, et al. Among authors: vikkula m. Mol Vis. 2008 Sep 19;14:1719-26. Mol Vis. 2008. PMID: 18806881 Free PMC article.
TMEM165 deficiency causes a congenital disorder of glycosylation.
Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G. Foulquier F, et al. Among authors: vikkula m. Am J Hum Genet. 2012 Jul 13;91(1):15-26. doi: 10.1016/j.ajhg.2012.05.002. Epub 2012 Jun 7. Am J Hum Genet. 2012. PMID: 22683087 Free PMC article.
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
Lorenz-Depiereux B, Bastepe M, Benet-Pagès A, Amyere M, Wagenstaller J, Müller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Jüppner H, Strom TM. Lorenz-Depiereux B, et al. Among authors: vikkula m. Nat Genet. 2006 Nov;38(11):1248-50. doi: 10.1038/ng1868. Epub 2006 Oct 8. Nat Genet. 2006. PMID: 17033625 Free PMC article.
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
Balikova I, Martens K, Melotte C, Amyere M, Van Vooren S, Moreau Y, Vetrie D, Fiegler H, Carter NP, Liehr T, Vikkula M, Matthijs G, Fryns JP, Casteels I, Devriendt K, Vermeesch JR. Balikova I, et al. Among authors: vikkula m. Am J Hum Genet. 2008 Jan;82(1):181-7. doi: 10.1016/j.ajhg.2007.08.001. Am J Hum Genet. 2008. PMID: 18179897 Free PMC article.
267 results