Literature DB >> 16488969

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

A Khan, K Chandler, D Pimenides, G C M Black, F D C Manson.   

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Year:  2006        PMID： 16488969      PMCID： PMC1856973          DOI： 10.1136/bjo.2005.080085

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  8 in total

1.  Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

Authors:  Juha Kolehmainen; Graeme C M Black; Anne Saarinen; Kate Chandler; Jill Clayton-Smith; Ann-Liz Träskelin; Rahat Perveen; Satu Kivitie-Kallio; Reijo Norio; Mette Warburg; Jean-Pierre Fryns; Albert de la Chapelle; Anna-Elina Lehesjoki
Journal:  Am J Hum Genet       Date:  2003-05-02       Impact factor: 11.025

2.  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

3.  A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families.

Authors:  Henna Tyynismaa; Pertti Sistonen; Sari Tuupanen; Timo Tervo; Anja Dammert; Terho Latvala; Tiina Alitalo
Journal:  Invest Ophthalmol Vis Sci       Date:  2002-10       Impact factor: 4.799

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

Authors:  F Brancati; E M Valente; A Sarkozy; J Fehèr; M Castori; P Del Duca; R Mingarelli; A Pizzuti; B Dallapiccola
Journal:  J Med Genet       Date:  2004-03       Impact factor: 6.318

5.  A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies.

Authors:  M M Cohen; B D Hall; D W Smith; C B Graham; K J Lampert
Journal:  J Pediatr       Date:  1973-08       Impact factor: 4.406

6.  Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22.

Authors:  Paula Summanen; Satu Kivitie-Kallio; Reijo Norio; Christina Raitta; Tero Kivelä
Journal:  Invest Ophthalmol Vis Sci       Date:  2002-05       Impact factor: 4.799

7.  Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Authors:  Juha Kolehmainen; Robert Wilkinson; Anna-Elina Lehesjoki; Kate Chandler; Satu Kivitie-Kallio; Jill Clayton-Smith; Ann-Liz Träskelin; Laura Waris; Anne Saarinen; Jabbar Khan; Varda Gross-Tsur; Elias I Traboulsi; Mette Warburg; Jean-Pierre Fryns; Reijo Norio; Graeme C M Black; Forbes D C Manson
Journal:  Am J Hum Genet       Date:  2004-05-12       Impact factor: 11.025

8.  The ophthalmic findings in Cohen syndrome.

Authors:  K E Chandler; S Biswas; I C Lloyd; N Parry; J Clayton-Smith; G C M Black
Journal:  Br J Ophthalmol       Date:  2002-12       Impact factor: 4.638
  8 in total
  1 in total

Review 1.  Ocular involvement in primary immunodeficiency diseases.

Authors:  Sima Hosseinverdi; Hassan Hashemi; Asghar Aghamohammadi; Hans D Ochs; Nima Rezaei
Journal:  J Clin Immunol       Date:  2013-11-30       Impact factor: 8.542
  1 in total

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