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A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.
Jensen LR, Garrett L, Hölter SM, Rathkolb B, Rácz I, Adler T, Prehn C, Hans W, Rozman J, Becker L, Aguilar-Pimentel JA, Puk O, Moreth K, Dopatka M, Walther DJ, von Bohlen Und Halbach V, Rath M, Delatycki M, Bert B, Fink H, Blümlein K, Ralser M, Van Dijck A, Kooy F, Stark Z, Müller S, Scherthan H, Gecz J, Wurst W, Wolf E, Zimmer A, Klingenspor M, Graw J, Klopstock T, Busch D, Adamski J, Fuchs H, Gailus-Durner V, de Angelis MH, von Bohlen Und Halbach O, Ropers HH, Kuss AW. Jensen LR, et al. Among authors: kuss aw. Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2083-2093. doi: 10.1016/j.bbadis.2018.12.011. Epub 2018 Dec 14. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 30557699 Free article.
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC. de Brouwer AP, et al. Among authors: kuss aw. Hum Mutat. 2007 Feb;28(2):207-8. doi: 10.1002/humu.9482. Hum Mutat. 2007. PMID: 17221867
Chromosome deletions in 13q33-34: report of four patients and review of the literature.
Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A. Walczak-Sztulpa J, et al. Among authors: kuss aw. Am J Med Genet A. 2008 Feb 1;146A(3):337-42. doi: 10.1002/ajmg.a.32127. Am J Med Genet A. 2008. PMID: 18203171 Review.
Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function.
Trimborn M, Ghani M, Walther DJ, Dopatka M, Dutrannoy V, Busche A, Meyer F, Nowak S, Nowak J, Zabel C, Klose J, Esquitino V, Garshasbi M, Kuss AW, Ropers HH, Mueller S, Poehlmann C, Gavvovidis I, Schindler D, Sperling K, Neitzel H. Trimborn M, et al. Among authors: kuss aw. PLoS One. 2010 Feb 16;5(2):e9242. doi: 10.1371/journal.pone.0009242. PLoS One. 2010. PMID: 20169082 Free PMC article.
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.
Jensen LR, Bartenschlager H, Rujirabanjerd S, Tzschach A, Nümann A, Janecke AR, Spörle R, Stricker S, Raynaud M, Nelson J, Hackett A, Fryns JP, Chelly J, de Brouwer AP, Hamel B, Gecz J, Ropers HH, Kuss AW. Jensen LR, et al. Among authors: kuss aw. Pathogenetics. 2010 Feb 2;3(1):2. doi: 10.1186/1755-8417-3-2. Pathogenetics. 2010. PMID: 20181063 Free PMC article.
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW. Jensen LR, et al. Among authors: kuss aw. Eur J Hum Genet. 2011 Jun;19(6):717-20. doi: 10.1038/ejhg.2010.244. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267006 Free PMC article.
98 results