Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.

Literature DB >> 14985379

A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.

F Brancati, E M Valente, A Sarkozy, J Fehèr, M Castori, P Del Duca, R Mingarelli, A Pizzuti, B Dallapiccola.

Abstract

Entities: Gene Species

Mesh：

Substances：
Collagen Type VIII

Year: 2004 PMID： 14985379 PMCID： PMC1766922 DOI： 10.1136/jmg.2003.012872

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

Keyword Cloud
Cited

× No keyword cloud information.

47 in total

1. A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.

Authors: Xiaohui Li; Yelena Bykhovskaya; Talin Haritunians; David Siscovick; Anthony Aldave; Loretta Szczotka-Flynn; Sudha K Iyengar; Jerome I Rotter; Kent D Taylor; Yaron S Rabinowitz
Journal: Hum Mol Genet Date: 2011-10-06 Impact factor: 6.150

2. Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.

Authors: Kathryn P Burdon; Stuart Macgregor; Yelena Bykhovskaya; Sharhbanou Javadiyan; Xiaohui Li; Kate J Laurie; Dorota Muszynska; Richard Lindsay; Judith Lechner; Talin Haritunians; Anjali K Henders; Durga Dash; David Siscovick; Seema Anand; Anthony Aldave; Douglas J Coster; Loretta Szczotka-Flynn; Richard A Mills; Sudha K Iyengar; Kent D Taylor; Tony Phillips; Grant W Montgomery; Jerome I Rotter; Alex W Hewitt; Shiwani Sharma; Yaron S Rabinowitz; Colin Willoughby; Jamie E Craig
Journal: Invest Ophthalmol Vis Sci Date: 2011-10-31 Impact factor: 4.799

3. Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance?

Authors: A Khan; K Chandler; D Pimenides; G C M Black; F D C Manson
Journal: Br J Ophthalmol Date: 2006-03 Impact factor: 4.638

4. Longitudinal study of keratoconus progression.

Authors: Xiaohui Li; Huiying Yang; Yaron S Rabinowitz
Journal: Exp Eye Res Date: 2007-07-06 Impact factor: 3.467

5. Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.

Authors: Kathryn P Burdon; Douglas J Coster; Jac C Charlesworth; Richard A Mills; Kate J Laurie; Cecilia Giunta; Alex W Hewitt; Paul Latimer; Jamie E Craig
Journal: Hum Genet Date: 2008-09-05 Impact factor: 4.132

A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.

1. A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.

2. Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.

3. Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance?

4. Longitudinal study of keratoconus progression.

5. Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.

6. Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.

7. Keratoconus: overview and update on treatment.

8. VSX1 gene analysis in keratoconus.

9. Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

10. A novel VSX1 mutation identified in an individual with keratoconus in India.