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114 results
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Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.
Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S. Hosoki K, et al. Eur J Hum Genet. 2008 Aug;16(8):1019-23. doi: 10.1038/ejhg.2008.90. Epub 2008 May 14. Eur J Hum Genet. 2008. PMID: 18478039
A novel human muscle cell model of Duchenne muscular dystrophy created by CRISPR/Cas9 and evaluation of antisense-mediated exon skipping.
Shimo T, Hosoki K, Nakatsuji Y, Yokota T, Obika S. Shimo T, et al. Among authors: hosoki k. J Hum Genet. 2018 Mar;63(3):365-375. doi: 10.1038/s10038-017-0400-0. Epub 2018 Jan 16. J Hum Genet. 2018. PMID: 29339778
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
Tohyama J, Yamamoto T, Hosoki K, Nagasaki K, Akasaka N, Ohashi T, Kobayashi Y, Saitoh S. Tohyama J, et al. Among authors: hosoki k. Am J Med Genet A. 2011 Oct;155A(10):2584-8. doi: 10.1002/ajmg.a.34224. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910242
Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype.
Hosoki K, Kagami M, Tanaka T, Kubota M, Kurosawa K, Kato M, Uetake K, Tohyama J, Ogata T, Saitoh S. Hosoki K, et al. J Pediatr. 2009 Dec;155(6):900-903.e1. doi: 10.1016/j.jpeds.2009.06.045. Epub 2009 Oct 1. J Pediatr. 2009. PMID: 19800077
Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome.
Hosoki K, Ohta T, Fujita K, Nishigaki S, Shiomi M, Niikawa N, Saitoh S. Hosoki K, et al. Pediatr Int. 2012 Jun;54(3):e22-5. doi: 10.1111/j.1442-200X.2011.03550.x. Pediatr Int. 2012. PMID: 22631585 No abstract available.
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.
Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh S. Hosoki K, et al. Am J Med Genet A. 2012 Aug;158A(8):1891-6. doi: 10.1002/ajmg.a.35439. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711443
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H. Nakamura M, et al. Among authors: hosoki k. J Med Genet. 2010 Oct;47(10):659-64. doi: 10.1136/jmg.2009.072058. Epub 2010 Jul 7. J Med Genet. 2010. PMID: 20610441
Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.
Saitoh S, Hosoki K, Takano K, Tonoki H. Saitoh S, et al. Among authors: hosoki k. Clin Genet. 2007 Oct;72(4):378-80. doi: 10.1111/j.1399-0004.2007.00860.x. Clin Genet. 2007. PMID: 17850637 No abstract available.
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.
Takahashi Y, Hosoki K, Matsushita M, Funatsuka M, Saito K, Kanazawa H, Goto Y, Saitoh S. Takahashi Y, et al. Among authors: hosoki k. Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):799-807. doi: 10.1002/ajmg.b.31221. Epub 2011 Aug 2. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21812100
Prion-like domains in RNA binding proteins are essential for building subnuclear paraspeckles.
Hennig S, Kong G, Mannen T, Sadowska A, Kobelke S, Blythe A, Knott GJ, Iyer KS, Ho D, Newcombe EA, Hosoki K, Goshima N, Kawaguchi T, Hatters D, Trinkle-Mulcahy L, Hirose T, Bond CS, Fox AH. Hennig S, et al. Among authors: hosoki k. J Cell Biol. 2015 Aug 17;210(4):529-39. doi: 10.1083/jcb.201504117. J Cell Biol. 2015. PMID: 26283796 Free PMC article.
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