Kato M - Search Results

1

The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.

Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Yoshihashi H, Kubota T, Nakagawa E, Goto Y, Inazawa J. Honda S, et al. Among authors: kato m. Am J Med Genet A. 2012 Jun;158A(6):1292-303. doi: 10.1002/ajmg.a.35321. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528406

2

No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.

Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou JW, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura M, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: kato m. Am J Med Genet A. 2006 Feb 1;140(3):291-3. doi: 10.1002/ajmg.a.31012. Am J Med Genet A. 2006. PMID: 16278908 No abstract available.

3

BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: kato m. Am J Med Genet A. 2006 Feb 1;140(3):205-11. doi: 10.1002/ajmg.a.31098. Am J Med Genet A. 2006. PMID: 16419101

4

Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene.

Honda S, Hayashi S, Kato M, Niida Y, Hayasaka K, Okuyama T, Imoto I, Mizutani S, Inazawa J. Honda S, et al. Among authors: kato m. Am J Med Genet A. 2007 Apr 1;143A(7):687-93. doi: 10.1002/ajmg.a.31638. Am J Med Genet A. 2007. PMID: 17343270

5

A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.

Takano K, Nakagawa E, Inoue K, Kamada F, Kure S, Goto Y; Japanese Mental Retardation Consortium. Takano K, et al. Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):479-84. doi: 10.1002/ajmg.b.30638. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 18081026

6

Two new cases of pure 1q terminal deletion presenting with brain malformations.

Hiraki Y, Okamoto N, Ida T, Nakata Y, Kamada M, Kanemura Y, Yamasaki M, Fujita H, Nishimura G, Kato M, Harada N, Matsumoto N. Hiraki Y, et al. Among authors: kato m. Am J Med Genet A. 2008 May 15;146A(10):1241-7. doi: 10.1002/ajmg.a.32275. Am J Med Genet A. 2008. PMID: 18384145

7

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N. Kuniba H, et al. Among authors: kato m. J Hum Genet. 2009 May;54(5):304-9. doi: 10.1038/jhg.2009.30. Epub 2009 Apr 3. J Hum Genet. 2009. PMID: 19343044

8

Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency.

Ide S, Sasaki M, Kato M, Shiihara T, Kinoshita S, Takahashi JY, Goto Y. Ide S, et al. Among authors: kato m. Brain Dev. 2010 Jun;32(6):506-10. doi: 10.1016/j.braindev.2009.05.004. Epub 2009 Jun 10. Brain Dev. 2010. PMID: 19520530

9

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. Among authors: kato m. 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

10

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).

Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N. Saitsu H, et al. Among authors: kato m. Am J Med Genet A. 2012 Jan;158A(1):199-205. doi: 10.1002/ajmg.a.34363. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106086

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