Ogata T - Search Results

1

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A. Miyake N, et al. Among authors: ogata t. Neurogenetics. 2017 Dec;18(4):185-194. doi: 10.1007/s10048-017-0520-x. Epub 2017 Aug 26. Neurogenetics. 2017. PMID: 28842795 Free PMC article.

2

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.

Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N. Sakai H, et al. Among authors: ogata t. Am J Med Genet A. 2006 Aug 15;140(16):1719-25. doi: 10.1002/ajmg.a.31353. Am J Med Genet A. 2006. PMID: 16835936

3

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. Miyake N, et al. Among authors: ogata t. Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913813

4

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.

Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Nukui M, Araki A, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Miyatake S, et al. Among authors: ogata t. J Hum Genet. 2015 Apr;60(4):175-82. doi: 10.1038/jhg.2014.124. Epub 2015 Jan 22. J Hum Genet. 2015. PMID: 25608832

5

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.

Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N. Miyamichi D, et al. Among authors: ogata t. J Hum Genet. 2016 Sep;61(9):839-42. doi: 10.1038/jhg.2016.56. Epub 2016 May 26. J Hum Genet. 2016. PMID: 27225848

6

Efficacy and safety of two doses of Norditropin^® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients.

Ozono K, Ogata T, Horikawa R, Matsubara Y, Ogawa Y, Nishijima K, Yokoya S. Ozono K, et al. Among authors: ogata t. Endocr J. 2018 Feb 26;65(2):159-174. doi: 10.1507/endocrj.EJ17-0313. Epub 2017 Nov 7. Endocr J. 2018. PMID: 29109363 Free article. Clinical Trial.

7

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.

Hiraide T, Nakashima M, Yamoto K, Fukuda T, Kato M, Ikeda H, Sugie Y, Aoto K, Kaname T, Nakabayashi K, Ogata T, Matsumoto N, Saitsu H. Hiraide T, et al. Among authors: ogata t. Hum Genet. 2018 Jan;137(1):95-104. doi: 10.1007/s00439-017-1863-y. Epub 2018 Jan 10. Hum Genet. 2018. PMID: 29322246

8

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.

Nakashima M, Tohyama J, Nakagawa E, Watanabe Y, Siew CG, Kwong CS, Yamoto K, Hiraide T, Fukuda T, Kaname T, Nakabayashi K, Hata K, Ogata T, Saitsu H, Matsumoto N. Nakashima M, et al. Among authors: ogata t. J Hum Genet. 2019 Apr;64(4):313-322. doi: 10.1038/s10038-018-0559-z. Epub 2019 Jan 17. J Hum Genet. 2019. PMID: 30655572

9

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.

Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. Hamanaka K, et al. Among authors: ogata t. Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066. Hum Mol Genet. 2019. PMID: 30985895

10

Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms.

Fujisawa Y, Kitaoka T, Ono H, Nakashima S, Ozono K, Ogata T. Fujisawa Y, et al. Among authors: ogata t. Front Endocrinol (Lausanne). 2020 Dec 18;11:590455. doi: 10.3389/fendo.2020.590455. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 33391183 Free PMC article.

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