Literature DB >> 23050561

OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.

T Kausar, M A Bhatti, M Ali, R S Shaikh, Z M Ahmed.   

Abstract

Entities:  

Mesh：

Year:  2012        PMID： 23050561     DOI： 10.1111/cge.12019

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  32 in total

1.  Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

Authors:  Faravareh Khordadpoor-Deilamani; Mohammad Taghi Akbari; Morteza Karimipoor; Gholam Reza Javadi
Journal:  J Hum Genet       Date:  2016-01-28       Impact factor: 3.172

2.  SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

Authors:  Fanny Morice-Picard; Eulalie Lasseaux; Stéphane François; Delphine Simon; Caroline Rooryck; Eric Bieth; Estelle Colin; Dominique Bonneau; Hubert Journel; Sophie Walraedt; Bart P Leroy; Francoise Meire; Didier Lacombe; Benoit Arveiler
Journal:  J Invest Dermatol       Date:  2013-08-28       Impact factor: 8.551

3.  Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Authors:  Lucia Mauri; Emanuela Manfredini; Alessandra Del Longo; Emanuela Veniani; Manuela Scarcello; Roberta Terrana; Adriano Egidio Radaelli; Donata Calò; Giuseppe Mingoia; Antonella Rossetti; Giovanni Marsico; Marco Mazza; Giovanni Pietro Gesu; Maria Cristina Patrosso; Silvana Penco; Elena Piozzi; Paola Primignani
Journal:  J Hum Genet       Date:  2016-10-13       Impact factor: 3.172

4.  Clinical utility gene card for: Oculocutaneous albinism.

Authors:  Karen Grønskov; Karen Brøndum-Nielsen; Birgit Lorenz; Markus N Preising
Journal:  Eur J Hum Genet       Date:  2014-02-12       Impact factor: 4.246

5.  Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene.

Authors:  Muhammad Shakil; Muhammad Ikram Ullah; Shabbir Hussain; Sabika Firasat; Saqib Mahmood; Haiba Kaul
Journal:  Int J Ophthalmol       Date:  2016-05-18       Impact factor: 1.779

6.  A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish.

Authors:  Yueru Li; Xin Geng; Lisui Bao; Ahmed Elaswad; Kevin W Huggins; Rex Dunham; Zhanjiang Liu
Journal:  Mol Genet Genomics       Date:  2017-03-13       Impact factor: 3.291

7.  Clinical Insights Into Foveal Morphology in Albinism.

Authors:  Brandon K McCafferty; Melissa A Wilk; John T McAllister; Kimberly E Stepien; Adam M Dubis; Murray H Brilliant; Jennifer L Anderson; Joseph Carroll; C Gail Summers
Journal:  J Pediatr Ophthalmol Strabismus       Date:  2015 May-Jun       Impact factor: 1.402

8.  A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching.

Authors:  Chen Wang; Flavia Brancusi; Zaheer M Valivullah; Michael G Anderson; Denise Cunningham; Adam Hedberg-Buenz; Bradley Power; Dimitre Simeonov; William A Gahl; Wadih M Zein; David R Adams; Brian Brooks
Journal:  Ophthalmic Genet       Date:  2017-07-25       Impact factor: 1.803

9.  N-Ethylmaleimide-Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium.

Authors:  Nicholas J Hanovice; Christina M S Daly; Jeffrey M Gross
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-11       Impact factor: 4.799

10.  Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1.

Authors:  Yan Wang; Yi-Fan Zhou; Na Shen; Yao-Wu Zhu; Kun Tan; Xiong Wang
Journal:  Curr Med Sci       Date:  2018-10-20
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.