Azuma N - Search Results

1

The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients.

Torii K, Nishina S, Morikawa H, Mizobuchi K, Takayama M, Tachibana N, Kurata K, Hikoya A, Sato M, Nakano T, Fukami M, Azuma N, Hayashi T, Saitsu H, Hotta Y. Torii K, et al. Among authors: azuma n. Int J Mol Sci. 2023 Sep 5;24(18):13678. doi: 10.3390/ijms241813678. Int J Mol Sci. 2023. PMID: 37761981 Free PMC article.

2

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.

Kurata K, Hosono K, Hayashi T, Mizobuchi K, Katagiri S, Miyamichi D, Nishina S, Sato M, Azuma N, Nakano T, Hotta Y. Kurata K, et al. Among authors: azuma n. Int J Mol Sci. 2019 Mar 26;20(6):1518. doi: 10.3390/ijms20061518. Int J Mol Sci. 2019. PMID: 30917587 Free PMC article.

3

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.

4

Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations.

Miyamichi D, Nishina S, Hosono K, Yokoi T, Kurata K, Sato M, Hotta Y, Azuma N. Miyamichi D, et al. Among authors: azuma n. Hum Genome Var. 2019 Jun 27;6:32. doi: 10.1038/s41439-019-0064-8. eCollection 2019. Hum Genome Var. 2019. PMID: 31666973 Free PMC article.

5

Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.

Nishina S, Hosono K, Ishitani S, Kosaki K, Yokoi T, Yoshida T, Tomita K, Fukami M, Saitsu H, Ogata T, Ishitani T, Hotta Y, Azuma N. Nishina S, et al. Among authors: azuma n. J Hum Genet. 2021 Oct;66(10):1021-1027. doi: 10.1038/s10038-021-00909-x. Epub 2021 Feb 27. J Hum Genet. 2021. PMID: 33640901 Free PMC article.

6

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.

Tachibana N, Hosono K, Nomura S, Arai S, Torii K, Kurata K, Sato M, Shimakawa S, Azuma N, Ogata T, Wada Y, Okamoto N, Saitsu H, Nishina S, Hotta Y. Tachibana N, et al. Among authors: azuma n. Genes (Basel). 2022 Feb 16;13(2):359. doi: 10.3390/genes13020359. Genes (Basel). 2022. PMID: 35205402 Free PMC article.

7

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.

Morikawa H, Nishina S, Torii K, Hosono K, Yokoi T, Shigeyasu C, Yamada M, Kosuga M, Fukami M, Saitsu H, Azuma N, Hori Y, Hotta Y. Morikawa H, et al. Among authors: azuma n. Hum Genome Var. 2023 Mar 24;10(1):9. doi: 10.1038/s41439-023-00239-8. Hum Genome Var. 2023. PMID: 36964172 Free PMC article.

8

Exudative retinal detachment following cataract surgery in Hallermann-Streiff syndrome.

Nishina S, Suzuki Y, Azuma N. Nishina S, et al. Among authors: azuma n. Graefes Arch Clin Exp Ophthalmol. 2008 Mar;246(3):453-5. doi: 10.1007/s00417-007-0741-z. Epub 2008 Jan 12. Graefes Arch Clin Exp Ophthalmol. 2008. PMID: 18193263

9

Abnormal traction of the vitreous detected by swept-source optical coherence tomography is related to the maculopathy associated with optic disc pits.

Yokoi T, Nakayama Y, Nishina S, Azuma N. Yokoi T, et al. Among authors: azuma n. Graefes Arch Clin Exp Ophthalmol. 2016 Apr;254(4):675-82. doi: 10.1007/s00417-015-3114-z. Epub 2015 Aug 6. Graefes Arch Clin Exp Ophthalmol. 2016. PMID: 26245337

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

560 results

Search Page