Azuma N - Search Results

1

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, Yamamoto Y, Saito R, Sano S, Nagai T, Wada H, Endo A, Urakami T, Ogata T, Fukami M. Suzuki J, et al. Among authors: azuma n. J Hum Genet. 2014 Jun;59(6):353-6. doi: 10.1038/jhg.2014.34. Epub 2014 May 8. J Hum Genet. 2014. PMID: 24804704

2

Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.

Hotta Y, Fujiki K, Hayakawa M, Ohta T, Fujimaki T, Tamaki K, Yokoyama T, Kanai A, Hirakata A, Hida T, Nishina S, Azuma N. Hotta Y, et al. Among authors: azuma n. Hum Genet. 1998 Aug;103(2):142-4. doi: 10.1007/pl00008705. Hum Genet. 1998. PMID: 9760195

3

Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.

Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M. Azuma N, et al. Am J Hum Genet. 1999 Sep;65(3):656-63. doi: 10.1086/302529. Am J Hum Genet. 1999. PMID: 10441571 Free PMC article.

4

Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E, Yamada M. Azuma N, et al. Am J Hum Genet. 2003 Jun;72(6):1565-70. doi: 10.1086/375555. Epub 2003 Apr 29. Am J Hum Genet. 2003. PMID: 12721955 Free PMC article.

5

The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure.

Azuma N, Tadokoro K, Asaka A, Yamada M, Yamaguchi Y, Handa H, Matsushima S, Watanabe T, Kohsaka S, Kida Y, Shiraishi T, Ogura T, Shimamura K, Nakafuku M. Azuma N, et al. Hum Mol Genet. 2005 Mar 15;14(6):735-45. doi: 10.1093/hmg/ddi069. Epub 2005 Jan 27. Hum Mol Genet. 2005. PMID: 15677484

6

Transdifferentiation of the retinal pigment epithelia to the neural retina by transfer of the Pax6 transcriptional factor.

Azuma N, Tadokoro K, Asaka A, Yamada M, Yamaguchi Y, Handa H, Matsushima S, Watanabe T, Kida Y, Ogura T, Torii M, Shimamura K, Nakafuku M. Azuma N, et al. Hum Mol Genet. 2005 Apr 15;14(8):1059-68. doi: 10.1093/hmg/ddi098. Epub 2005 Mar 9. Hum Mol Genet. 2005. PMID: 15757974

7

Three novel mutations of the PAX6 gene in Japanese aniridia patients.

Kawano T, Wang C, Hotta Y, Sato M, Iwata-Amano E, Hikoya A, Fujita N, Koyama N, Shirai S, Azuma N, Ohtsubo M, Shimizu N, Minoshima S. Kawano T, et al. Among authors: azuma n. J Hum Genet. 2007;52(7):571-574. doi: 10.1007/s10038-007-0153-2. Epub 2007 Jun 14. J Hum Genet. 2007. PMID: 17568989

8

SOX10 mutation in Waardenburg syndrome type II.

Iso M, Fukami M, Horikawa R, Azuma N, Kawashiro N, Ogata T. Iso M, et al. Among authors: azuma n. Am J Med Genet A. 2008 Aug 15;146A(16):2162-3. doi: 10.1002/ajmg.a.32403. Am J Med Genet A. 2008. PMID: 18627047 No abstract available.

9

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.

Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M, Ogata T. Dateki S, et al. Among authors: azuma n. J Clin Endocrinol Metab. 2010 Feb;95(2):756-64. doi: 10.1210/jc.2009-1334. Epub 2009 Dec 4. J Clin Endocrinol Metab. 2010. PMID: 19965921

10

Genetic screening of Wnt signaling factors in advanced retinopathy of prematurity.

Hiraoka M, Takahashi H, Orimo H, Hiraoka M, Ogata T, Azuma N. Hiraoka M, et al. Among authors: azuma n. Mol Vis. 2010 Dec 5;16:2572-7. Mol Vis. 2010. PMID: 21151595 Free PMC article.

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