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Serotonin type 3 receptor genes: HTR3A, B, C, D, E.
Niesler B, Kapeller J, Hammer C, Rappold G. Niesler B, et al. Among authors: kapeller j. Pharmacogenomics. 2008 May;9(5):501-4. doi: 10.2217/14622416.9.5.501. Pharmacogenomics. 2008. PMID: 18466097 Review.
First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome.
Kapeller J, Houghton LA, Mönnikes H, Walstab J, Möller D, Bönisch H, Burwinkel B, Autschbach F, Funke B, Lasitschka F, Gassler N, Fischer C, Whorwell PJ, Atkinson W, Fell C, Büchner KJ, Schmidtmann M, van der Voort I, Wisser AS, Berg T, Rappold G, Niesler B. Kapeller J, et al. Hum Mol Genet. 2008 Oct 1;17(19):2967-77. doi: 10.1093/hmg/ddn195. Epub 2008 Jul 9. Hum Mol Genet. 2008. PMID: 18614545
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
Sabherwal N, Bangs F, Röth R, Weiss B, Jantz K, Tiecke E, Hinkel GK, Spaich C, Hauffa BP, van der Kamp H, Kapeller J, Tickle C, Rappold G. Sabherwal N, et al. Among authors: kapeller j. Hum Mol Genet. 2007 Jan 15;16(2):210-22. doi: 10.1093/hmg/ddl470. Epub 2007 Jan 2. Hum Mol Genet. 2007. PMID: 17200153
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.
Horn D, Kapeller J, Rivera-Brugués N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco AP, Bonin M, Riess O, Wohlleber E, Illig T, Bezzina CR, Franke A, Spranger S, Villavicencio-Lorini P, Seifert W, Rosenfeld J, Klopocki E, Rappold GA, Strom TM. Horn D, et al. Among authors: kapeller j. Hum Mutat. 2010 Nov;31(11):E1851-60. doi: 10.1002/humu.21362. Hum Mutat. 2010. PMID: 20848658 Free PMC article.
15 results