Literature DB >> 27275442

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

Muhammad Shakil1, Muhammad Ikram Ullah2, Shabbir Hussain1, Sabika Firasat3, Saqib Mahmood4, Haiba Kaul1.   

Abstract

Entities:  

Year:  2016        PMID： 27275442      PMCID： PMC4886872          DOI： 10.18240/ijo.2016.05.28

Source DB:  PubMed          Journal:  Int J Ophthalmol        ISSN： 2222-3959            Impact factor:   1.779


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  12 in total

1.  Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.

Authors:  T Forshew; S Khaliq; L Tee; U Smith; C A Johnson; S Q Mehdi; E R Maher
Journal:  Clin Genet       Date:  2005-08       Impact factor: 4.438

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

Authors:  T Kausar; M A Bhatti; M Ali; R S Shaikh; Z M Ahmed
Journal:  Clin Genet       Date:  2012-10-10       Impact factor: 4.438

3.  Refractive profile in oculocutaneous albinism and its correlation with final visual outcome.

Authors:  Claudia Yahalom; Veronica Tzur; Anat Blumenfeld; Gabriel Greifner; Dalia Eli; Ada Rosenmann; Sherry Glanzer; Irene Anteby
Journal:  Br J Ophthalmol       Date:  2011-12-01       Impact factor: 4.638

4.  Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

Authors:  Haiba Kaul; S Amer Riazuddin; Zaheeruddin A Qazi; Idrees A Nasir; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Javed Akram; J Fielding Hejtmancik; Sheikh Riazuddin
Journal:  Arch Ophthalmol       Date:  2010-08

5.  Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.

Authors:  Y Tomita; A Takeda; S Okinaga; H Tagami; S Shibahara
Journal:  Biochem Biophys Res Commun       Date:  1989-11-15       Impact factor: 3.575

6.  Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.

Authors:  Haiba Kaul; S Amer Riazuddin; Mariam Shahid; Samra Kousar; Nadeem H Butt; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Javed Akram; J Fielding Hejtmancik; Sheikh Riazuddin
Journal:  Mol Vis       Date:  2010-03-24       Impact factor: 2.367

7.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

Review 8.  Mechanisms of hypopigmentation in human oculocutaneous albinism.

Authors:  R A King; D P Olds; D Townsend
Journal:  Prog Clin Biol Res       Date:  1988

9.  Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

Authors:  Karen Grønskov; Christopher M Dooley; Elsebet Østergaard; Robert N Kelsh; Lars Hansen; Mitchell P Levesque; Kaj Vilhelmsen; Kjeld Møllgård; Derek L Stemple; Thomas Rosenberg
Journal:  Am J Hum Genet       Date:  2013-02-07       Impact factor: 11.025

10.  Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.

Authors:  Ai-Hua Wei; Dong-Jie Zang; Zhe Zhang; Xuan-Zhu Liu; Xin He; Lin Yang; Yi Wang; Zhi-Yong Zhou; Ming-Rong Zhang; Lan-Lan Dai; Xiu-Min Yang; Wei Li
Journal:  J Invest Dermatol       Date:  2013-01-30       Impact factor: 8.551
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  1 in total

1.  Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene.

Authors:  Muzammil Ahmad Khan
Journal:  Int J Ophthalmol       Date:  2017-05-18       Impact factor: 1.779
  1 in total

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