Literature DB >> 23215915

Novel homozygous CYP1B1 deletion in siblings with primary congenital glaucoma.

Kristy Damjanovich, Erin E Baldwin, Tracey Lewis, Pinar Bayrak-Toydemir.   

Abstract

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Year:  2012        PMID： 23215915     DOI： 10.3109/13816810.2012.743571

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


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  3 in total

1.  Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients.

Authors:  Adam P DeLuca; Wallace L M Alward; Jeffrey Liebmann; Robert Ritch; Kazuhide Kawase; Young H Kwon; Alan L Robin; Edwin M Stone; Todd E Scheetz; John H Fingert
Journal:  J Glaucoma       Date:  2017-12       Impact factor: 2.503

2.  CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma.

Authors:  Emmanuelle Souzeau; Melanie Hayes; Jonathan B Ruddle; James E Elder; Sandra E Staffieri; Lisa S Kearns; David A Mackey; Tiger Zhou; Bronwyn Ridge; Kathryn P Burdon; Andrew Dubowsky; Jamie E Craig
Journal:  Mol Vis       Date:  2015-02-11       Impact factor: 2.367

3.  Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion.

Authors:  Emmanuelle Souzeau; Andrew Dubowsky; Jonathan B Ruddle; Jamie E Craig
Journal:  Mol Genet Genomic Med       Date:  2019-06-28       Impact factor: 2.183
  3 in total

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