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Literature DB >> 22560093

Documenting the corneal phenotype associated with the MIR184 c.57C>T mutation.

Benjamin W Iliff, S Amer Riazuddin, John D Gottsch.

Abstract

Entities: Disease Gene

Mesh：

Year: 2012 PMID： 22560093 PMCID： PMC3376499 DOI： 10.1016/j.ajhg.2012.01.019

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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6 in total

1. Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.

Authors: Anne E Hughes; Durga P Dash; A Jonathan Jackson; David G Frazer; Giuliana Silvestri
Journal: Invest Ophthalmol Vis Sci Date: 2003-12 Impact factor: 4.799

2. A single-base substitution in the seed region of miR-184 causes EDICT syndrome.

Authors: Benjamin W Iliff; S Amer Riazuddin; John D Gottsch
Journal: Invest Ophthalmol Vis Sci Date: 2012-01-25 Impact factor: 4.799

3. Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysis.

Authors: Durga Prasad Dash; Giuliana Silvestri; Anne E Hughes
Journal: Mol Vis Date: 2006-05-12 Impact factor: 2.367

4. Mutation altering the miR-184 seed region causes familial keratoconus with cataract.

Authors: Anne E Hughes; Declan T Bradley; Malcolm Campbell; Judith Lechner; Durga P Dash; David A Simpson; Colin E Willoughby
Journal: Am J Hum Genet Date: 2011-10-11 Impact factor: 11.025

5. Clinical and ultrastructural features of a novel hereditary anterior segment dysgenesis.

Authors: E K Akpek; Albert S Jun; Daniel F Goodman; W Richard Green; John D Gottsch
Journal: Ophthalmology Date: 2002-03 Impact factor: 12.079

6. Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3.

Authors: Albert S Jun; Karl W Broman; Diana V Do; Esen K Akpek; Walter J Stark; John D Gottsch
Journal: Am J Ophthalmol Date: 2002-08 Impact factor: 5.258

6 in total

5 in total

1. C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain.

Authors: Yelena Bykhovskaya; Ana L Caiado Canedo; Kenneth W Wright; Yaron S Rabinowitz
Journal: Ophthalmic Genet Date: 2015 Impact factor: 1.803

Review 2. The pathogenesis of keratoconus.

Authors: A E Davidson; S Hayes; A J Hardcastle; S J Tuft
Journal: Eye (Lond) Date: 2013-12-20 Impact factor: 3.775