Literature DB >> 32172635

Quasidominance in autosomal recessive RDH12-Leber congenital amaurosis.

Ruben Jauregui1,2,3, Ahra Cho1,2,4, Christine L Xu1,2, Akemi J Tanaka5, Janet R Sparrow1,2,5, Stephen H Tsang1,2,5.   

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Year:  2020        PMID： 32172635      PMCID： PMC7513925          DOI： 10.1080/13816810.2020.1737949

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  12 in total

1.  PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.

Authors:  Xuan Zou; Qing Fu; Sha Fang; Hui Li; Zhongqi Ge; Lizhu Yang; Mingchu Xu; Zixi Sun; Huajin Li; Yumei Li; Fangtian Dong; Rui Chen; Ruifang Sui
Journal:  Retina       Date:  2019-10       Impact factor: 4.256

Review 2.  Caring for Hereditary Childhood Retinal Blindness.

Authors:  Ruben Jauregui; Galaxy Y Cho; Vitor K L Takahashi; Julia T Takiuti; Alexander G Bassuk; Vinit B Mahajan; Stephen H Tsang
Journal:  Asia Pac J Ophthalmol (Phila)       Date:  2018-03-14

3.  The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

Authors:  Andreas Schuster; Andreas R Janecke; Robert Wilke; Eduard Schmid; Debra A Thompson; Gerd Utermann; Bernd Wissinger; Eberhart Zrenner; Andreas Gal
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-04       Impact factor: 4.799

4.  Peripapillary sparing in RDH12-associated Leber congenital amaurosis.

Authors:  Aakriti Garg; Winston Lee; Jesse D Sengillo; Rando Allikmets; Kartik Garg; Stephen H Tsang
Journal:  Ophthalmic Genet       Date:  2017-05-17       Impact factor: 1.803

Review 5.  Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.

Authors:  Daniel C Chung; Elias I Traboulsi
Journal:  J AAPOS       Date:  2009-12       Impact factor: 1.220

Review 6.  Leber congenital amaurosis: genes, proteins and disease mechanisms.

Authors:  Anneke I den Hollander; Ronald Roepman; Robert K Koenekoop; Frans P M Cremers
Journal:  Prog Retin Eye Res       Date:  2008-06-01       Impact factor: 21.198

7.  Rates of Bone Spicule Pigment Appearance in Patients With Retinitis Pigmentosa Sine Pigmento.

Authors:  Vitor K L Takahashi; Júlia T Takiuti; Ruben Jauregui; Vinit B Mahajan; Stephen H Tsang
Journal:  Am J Ophthalmol       Date:  2018-08-04       Impact factor: 5.258

8.  RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.

Authors:  Tomas S Aleman; Katherine E Uyhazi; Leona W Serrano; Vidyullatha Vasireddy; Scott J Bowman; Michael J Ammar; Denise J Pearson; Albert M Maguire; Jean Bennett
Journal:  Invest Ophthalmol Vis Sci       Date:  2018-10-01       Impact factor: 4.799

9.  RDH12 retinopathy: novel mutations and phenotypic description.

Authors:  Donna S Mackay; Arundhati Dev Borman; Phillip Moradi; Robert H Henderson; Zheng Li; Genevieve A Wright; Naushin Waseem; Mamatha Gandra; Dorothy A Thompson; Shomi S Bhattacharya; Graham E Holder; Andrew R Webster; Anthony T Moore
Journal:  Mol Vis       Date:  2011-10-19       Impact factor: 2.367

10.  Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.

Authors:  Leo Sheck; Wayne I L Davies; Phillip Moradi; Anthony G Robson; Neruban Kumaran; Alki C Liasis; Andrew R Webster; Anthony T Moore; Michel Michaelides
Journal:  Ophthalmology       Date:  2018-02-03       Impact factor: 12.079
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