Literature DB >> 22499343

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.

Ola Khalifa1, Faiqa Imtiaz, Rabab Allam, Zuhair Al-Hassnan, Amal Al-Hemidan, Khalid Al-Mane, Gheid Abuharb, Ameera Balobaid, Nadia Sakati, James Hyland, Mohammed Al-Owain.   

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Year:  2012        PMID： 22499343     DOI： 10.1136/jmedgenet-2012-100783

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  A common genetic variant as an effect modifier for primary angle closure glaucoma.

Authors:  Hua Bai; Hui Liu; Juan Wang; Guohui Ling; Yifei Huang
Journal:  Int J Clin Exp Med       Date:  2015-01-15

Review 2.  Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma.

Authors:  Altaf A Kondkar
Journal:  Appl Clin Genet       Date:  2021-03-09

Review 3.  Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.

Authors:  Abdullah Al Mutery; Mona Mahfood; Jihen Chouchen; Abdelaziz Tlili
Journal:  Hum Genet       Date:  2021-08-02       Impact factor: 4.132

4.  Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.

Authors:  Allan J Richards; Gregory S Fincham; Annie McNinch; David Hill; Arabella V Poulson; Bruce Castle; Melissa M Lees; Anthony T Moore; John D Scott; Martin P Snead
Journal:  J Med Genet       Date:  2013-08-06       Impact factor: 6.318

5.  Congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype.

Authors:  Serhat Imamoglu; Vedat Kaya; Ebru Yalin Imamoglu; Kemran Gok
Journal:  Indian J Ophthalmol       Date:  2016-11       Impact factor: 1.848
  5 in total

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