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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. Gabriele M, et al. Among authors: kosaki k. Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006. Am J Hum Genet. 2017. PMID: 28575647 Free PMC article.
Isoform-specific imprinting of the human PEG1/MEST gene.
Kosaki K, Kosaki R, Craigen WJ, Matsuo N. Kosaki K, et al. Among authors: kosaki r. Am J Hum Genet. 2000 Jan;66(1):309-12. doi: 10.1086/302712. Am J Hum Genet. 2000. PMID: 10631159 Free PMC article. No abstract available.
Reversible diffuse white matter lesion in Alagille syndrome.
Takenouchi T, Shimozato S, Kosaki K, Momoshima S, Takahashi T. Takenouchi T, et al. Among authors: kosaki k. Pediatr Neurol. 2011 Jul;45(1):54-6. doi: 10.1016/j.pediatrneurol.2011.02.009. Pediatr Neurol. 2011. PMID: 21723462
Congenital corneal staphyloma as a complication of Kabuki syndrome.
Tanaka R, Takenouchi T, Uchida K, Sato T, Fukushima H, Yoshihashi H, Takahashi T, Tsubota K, Kosaki K. Tanaka R, et al. Among authors: kosaki k. Am J Med Genet A. 2012 Aug;158A(8):2000-2. doi: 10.1002/ajmg.a.35453. Epub 2012 Jul 11. Am J Med Genet A. 2012. PMID: 22786791
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.
Takenouchi T, Yagihashi T, Tsuchiya H, Torii C, Hayashi K, Kosaki R, Saitoh S, Takahashi T, Kosaki K. Takenouchi T, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2012 Oct;158A(10):2621-3. doi: 10.1002/ajmg.a.35230. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887345 No abstract available.
506 results