Azuma N - Search Results

1

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.

2

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

3

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.

4

Ophthalmic features of CHARGE syndrome with CHD7 mutations.

Nishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, Kurosawa K, Yamane T, Mizuno S, Tsuzuki K, Kosaki K. Nishina S, et al. Among authors: azuma n. Am J Med Genet A. 2012 Mar;158A(3):514-8. doi: 10.1002/ajmg.a.34400. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302456

5

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

6

Two-step transplantation for primary hyperoxaluria: a winning strategy to prevent progression of systemic oxalosis in early onset renal insufficiency cases.

Sasaki K, Sakamoto S, Uchida H, Shigeta T, Matsunami M, Kanazawa H, Fukuda A, Nakazawa A, Sato M, Ito S, Horikawa R, Yokoi T, Azuma N, Kasahara M. Sasaki K, et al. Among authors: azuma n. Pediatr Transplant. 2015 Feb;19(1):E1-6. doi: 10.1111/petr.12376. Epub 2014 Oct 17. Pediatr Transplant. 2015. PMID: 25323048

7

Genotype-phenotype correlation of PAX6 gene mutations in aniridia.

Yokoi T, Nishina S, Fukami M, Ogata T, Hosono K, Hotta Y, Azuma N. Yokoi T, et al. Among authors: azuma n. Hum Genome Var. 2016 Feb 11;3:15052. doi: 10.1038/hgv.2015.52. eCollection 2016. Hum Genome Var. 2016. PMID: 27081561 Free PMC article.

8

SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.

Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M. Shima H, et al. Among authors: azuma n. Endocr J. 2017 Aug 30;64(8):813-817. doi: 10.1507/endocrj.EJ17-0078. Epub 2017 Jul 28. Endocr J. 2017. PMID: 28659543 Free article.

9

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y. Hosono K, et al. Among authors: azuma n. Sci Rep. 2018 May 29;8(1):8279. doi: 10.1038/s41598-018-26524-z. Sci Rep. 2018. PMID: 29844330 Free PMC article.

10

Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism.

Haque MN, Ohtsubo M, Nishina S, Nakao S, Yoshida K, Hosono K, Kurata K, Ohishi K, Fukami M, Sato M, Hotta Y, Azuma N, Minoshima S. Haque MN, et al. Among authors: azuma n. J Hum Genet. 2021 Feb;66(2):205-214. doi: 10.1038/s10038-020-00836-3. Epub 2020 Sep 9. J Hum Genet. 2021. PMID: 32908217

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