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Page 1
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Wortmann SB, et al. Among authors: de brouwer ap. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H. Kleefstra T, et al. Among authors: de brouwer ap, de vries bb, de bruijn d. J Med Genet. 2005 Apr;42(4):299-306. doi: 10.1136/jmg.2004.028464. J Med Genet. 2005. PMID: 15805155 Free PMC article.
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BC, de Vries BB, van Bokhoven H, Yntema HG. Lugtenberg D, et al. Among authors: de brouwer ap, de vries bb. J Med Genet. 2006 Apr;43(4):362-70. doi: 10.1136/jmg.2005.036178. Epub 2005 Sep 16. J Med Genet. 2006. PMID: 16169931 Free PMC article.
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
Lugtenberg D, Yntema HG, Banning MJ, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Gecz J, van Reeuwijk J, Nabuurs SB, de Vries BB, Hamel BC, de Brouwer AP, van Bokhoven H. Lugtenberg D, et al. Among authors: de brouwer ap, de vries bb. Am J Hum Genet. 2006 Feb;78(2):265-78. doi: 10.1086/500306. Epub 2005 Dec 29. Am J Hum Genet. 2006. PMID: 16385466 Free PMC article.
Arts syndrome is caused by loss-of-function mutations in PRPS1.
de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. de Brouwer AP, et al. Am J Hum Genet. 2007 Sep;81(3):507-18. doi: 10.1086/520706. Epub 2007 Aug 3. Am J Hum Genet. 2007. PMID: 17701896 Free PMC article.
Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb.
Schuurs-Hoeijmakers JH, Vermeer S, van Bon BW, Pfundt R, Marcelis C, de Brouwer AP, de Leeuw N, de Vries BB. Schuurs-Hoeijmakers JH, et al. Among authors: de brouwer ap, de leeuw n, de vries bb. J Med Genet. 2009 Jun;46(6):421-3. doi: 10.1136/jmg.2009.066910. J Med Genet. 2009. PMID: 19487540 No abstract available.
Regulation of MYCN expression in human neuroblastoma cells.
Jacobs JF, van Bokhoven H, van Leeuwen FN, Hulsbergen-van de Kaa CA, de Vries IJ, Adema GJ, Hoogerbrugge PM, de Brouwer AP. Jacobs JF, et al. Among authors: de brouwer ap, de vries ij. BMC Cancer. 2009 Jul 18;9:239. doi: 10.1186/1471-2407-9-239. BMC Cancer. 2009. PMID: 19615087 Free PMC article.
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP. Coene KL, et al. Among authors: de brouwer ap. Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002. Am J Hum Genet. 2009. PMID: 19800048 Free PMC article.
151 results