Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene.

Literature DB >> 21494281

Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene.

P I Sergouniotis, A E Davidson, K Sehmi, A R Webster, A G Robson, A T Moore.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2011 PMID： 21494281 PMCID： PMC3178212 DOI： 10.1038/eye.2011.88

Source DB: PubMed Journal: Eye (Lond) ISSN： 0950-222X Impact factor: 3.775

× No keyword cloud information.

7 in total

1. An unusual fundus phenotype of inner retinal sheen in X-linked retinoschisis.

Authors: A G Robson; L S Mengher; M H Tan; A T Moore
Journal: Eye (Lond) Date: 2008-12-05 Impact factor: 3.775

2. Shortening of the rod outer segment in Oguchi disease.

Authors: Hideaki Hashimoto; Shoji Kishi
Journal: Graefes Arch Clin Exp Ophthalmol Date: 2009-06-11 Impact factor: 3.117

3. Functional observations in vitamin A deficiency: diagnosis and time course of recovery.

Authors: V A McBain; C A Egan; S J Pieris; G Supramaniam; A R Webster; A C Bird; G E Holder
Journal: Eye (Lond) Date: 2005-12-09 Impact factor: 3.775

4. Spectral-domain optical coherence tomography findings in the Mizuo-Nakamura phenomenon of Oguchi disease.

Authors: Miho Takada; Atsushi Otani; Ken Ogino; Nagahisa Yoshimura
Journal: Retina Date: 2011-03 Impact factor: 4.256

5. Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination.

Authors: M Maw; G Kumaramanickavel; B Kar; S John; R Bridges; M Denton
Journal: Hum Mutat Date: 1998 Impact factor: 4.878

6. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture.

Authors: T P Dryja
Journal: Am J Ophthalmol Date: 2000-11 Impact factor: 5.258

7. Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.

Authors: Koji M Nishiguchi; Michael A Sandberg; Aart C Kooijman; Kirill A Martemyanov; Jan W R Pott; Stephanie A Hagstrom; Vadim Y Arshavsky; Eliot L Berson; Thaddeus P Dryja
Journal: Nature Date: 2004-01-01 Impact factor: 49.962

7 in total

9 in total

1. Retinal structure in vitamin A deficiency as explored with multimodal imaging.

Authors: Tomas S Aleman; Sean T Garrity; Alexander J Brucker
Journal: Doc Ophthalmol Date: 2013-07-31 Impact factor: 2.379

2. Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.

Authors: Caroline Atef Tawfik; Nagham Maher Elbagoury; Noha Ibrahim Khater; Mona Lotfi Essawi
Journal: BMC Ophthalmol Date: 2022-05-12 Impact factor: 2.086

3. Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.

Authors: Pooja Godara; Robert F Cooper; Panagiotis I Sergouniotis; Melissa A Diederichs; Megan R Streb; Mohamed A Genead; J Jason McAnany; Andrew R Webster; Anthony T Moore; Adam M Dubis; Maureen Neitz; Alfredo Dubra; Edwin M Stone; Gerald A Fishman; Dennis P Han; Michel Michaelides; Joseph Carroll
Journal: Am J Ophthalmol Date: 2012-09-07 Impact factor: 5.258

4. A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.

Authors: Lingli Huang; Wen Li; Weilin Tang; Xiaohua Zhu; Pingbo Ou-Yang; Guangxiu Lu
Journal: Mol Vis Date: 2012-03-01 Impact factor: 2.367

9. A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report.

Authors: Hajar Aryan; Atekeh Bahadori; Dariush D Farhud; Marjan Zarif Yeganeh; Haniyeh Pourkalhor
Journal: Iran J Public Health Date: 2020-05 Impact factor: 1.429