Kosaki K - Search Results

1

PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome.

Ohkawa T, Nishimura A, Kosaki K, Aoki-Nogami Y, Tomizawa D, Kashimada K, Morio T, Kato M, Mizutani S, Takagi M. Ohkawa T, et al. Among authors: kosaki k. J Hum Genet. 2022 Jan;67(1):51-54. doi: 10.1038/s10038-021-00965-3. Epub 2021 Aug 2. J Hum Genet. 2022. PMID: 34341476

2

Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. Yoshihashi H, et al. Among authors: kosaki r, kosaki k. Am J Hum Genet. 2000 Aug;67(2):476-82. doi: 10.1086/302997. Epub 2000 Jun 12. Am J Hum Genet. 2000. PMID: 10856193 Free PMC article.

3

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G. Hilton E, et al. Among authors: kosaki k. Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367324 Free PMC article.

4

Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.

Inoue H, Takada H, Kusuda T, Goto T, Ochiai M, Kinjo T, Muneuchi J, Takahata Y, Takahashi N, Morio T, Kosaki K, Hara T. Inoue H, et al. Among authors: kosaki k. Eur J Pediatr. 2010 Jul;169(7):839-44. doi: 10.1007/s00431-009-1126-6. Epub 2010 Jan 6. Eur J Pediatr. 2010. PMID: 20052490

5

Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation.

Kosaki R, Takenouchi T, Takeda N, Kagami M, Nakabayashi K, Hata K, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Am J Med Genet A. 2014 Apr;164A(4):993-7. doi: 10.1002/ajmg.a.36364. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24459012

6

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.

Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N. Yamada Y, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2014 Aug;164A(8):1899-908. doi: 10.1002/ajmg.a.36551. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715670

7

Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.

Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Shimizu A, Torii C, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: kosaki k. Clin Genet. 2015 Sep;88(3):288-92. doi: 10.1111/cge.12492. Epub 2014 Nov 13. Clin Genet. 2015. PMID: 25156961

8

KIF1A mutation in a patient with progressive neurodegeneration.

Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: kosaki k. J Hum Genet. 2014 Nov;59(11):639-41. doi: 10.1038/jhg.2014.80. Epub 2014 Sep 25. J Hum Genet. 2014. PMID: 25253658

9

Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.

Takenouchi T, Miura K, Uehara T, Mizuno S, Kosaki K. Takenouchi T, et al. Among authors: kosaki k. Am J Med Genet A. 2016 Oct;170(10):2587-90. doi: 10.1002/ajmg.a.37761. Epub 2016 Jun 3. Am J Med Genet A. 2016. PMID: 27256762

10

Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy.

Fukushima H, Takenouchi T, Kosaki K. Fukushima H, et al. Among authors: kosaki k. Am J Med Genet A. 2016 Sep;170(9):2453-6. doi: 10.1002/ajmg.a.37829. Epub 2016 Jul 4. Am J Med Genet A. 2016. PMID: 27375007

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