Naruto T - Search Results

1

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

Enokizono M, Aida N, Niwa T, Osaka H, Naruto T, Kurosawa K, Ohba C, Suzuki T, Saitsu H, Goto T, Matsumoto N. Enokizono M, et al. Among authors: naruto t. J Neurol Sci. 2017 May 15;376:7-12. doi: 10.1016/j.jns.2017.02.065. Epub 2017 Mar 1. J Neurol Sci. 2017. PMID: 28431631

2

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

Kuroda Y, Ohashi I, Tominaga M, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K. Kuroda Y, et al. Among authors: naruto t. Am J Med Genet A. 2014 Jun;164A(6):1550-4. doi: 10.1002/ajmg.a.36477. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668897

3

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Iai M, Kurosawa K. Kuroda Y, et al. Among authors: naruto t. Am J Med Genet A. 2014 Aug;164A(8):2104-8. doi: 10.1002/ajmg.a.36604. Epub 2014 May 6. Am J Med Genet A. 2014. PMID: 24801133

4

West syndrome in a patient with Schinzel-Giedion syndrome.

Miyake F, Kuroda Y, Naruto T, Ohashi I, Takano K, Kurosawa K. Miyake F, et al. Among authors: naruto t. J Child Neurol. 2015 Jun;30(7):932-6. doi: 10.1177/0883073814541468. Epub 2014 Jul 14. J Child Neurol. 2015. PMID: 25028416

5

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Wada T, Kurosawa K. Kuroda Y, et al. Among authors: naruto t. Am J Med Genet A. 2014 Nov;164A(11):2873-8. doi: 10.1002/ajmg.a.36704. Epub 2014 Aug 6. Am J Med Genet A. 2014. PMID: 25099823

6

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

Kuroda Y, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K. Kuroda Y, et al. Among authors: naruto t. Am J Med Genet A. 2015 Feb;167A(2):389-93. doi: 10.1002/ajmg.a.36813. Epub 2014 Dec 8. Am J Med Genet A. 2015. PMID: 25487640

7

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K. Kuroda Y, et al. Among authors: naruto t. Am J Med Genet A. 2015 Jun;167(6):1349-53. doi: 10.1002/ajmg.a.37002. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900396

8

A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.

Kuroda Y, Ohashi I, Enomoto Y, Naruto T, Baba N, Tanaka Y, Aida N, Okamoto N, Niihori T, Aoki Y, Kurosawa K. Kuroda Y, et al. Among authors: naruto t. Am J Med Genet A. 2015 Sep;167A(9):2223-5. doi: 10.1002/ajmg.a.37135. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25914220 No abstract available.

9

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

Tsurusaki Y, Ohashi I, Enomoto Y, Naruto T, Mitsui J, Aida N, Kurosawa K. Tsurusaki Y, et al. Among authors: naruto t. Hum Genome Var. 2017 Jun 8;4:17019. doi: 10.1038/hgv.2017.19. eCollection 2017. Hum Genome Var. 2017. PMID: 28611923 Free PMC article.

10

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

Enya T, Okamoto N, Iba Y, Miyazawa T, Okada M, Ida S, Naruto T, Imoto I, Fujita A, Miyake N, Matsumoto N, Sugimoto K, Takemura T. Enya T, et al. Among authors: naruto t. Am J Med Genet A. 2018 Mar;176(3):707-711. doi: 10.1002/ajmg.a.38606. Epub 2018 Jan 23. Am J Med Genet A. 2018. PMID: 29359444

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