Literature DB >> 16234475

Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation.

A O Khan, M Aldahmesh, A Al-Saif, B Meyer.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 16234475      PMCID： PMC1772954          DOI： 10.1136/bjo.2005.073510

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


× No keyword cloud information.
  7 in total

Review 1.  Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.

Authors:  K M Dipple; E R McCabe
Journal:  Am J Hum Genet       Date:  2000-05-01       Impact factor: 11.025

2.  Pellucid marginal corneal degeneration.

Authors:  M S Sridhar; S Mahesh; A K Bansal; Rishita Nutheti; G N Rao
Journal:  Ophthalmology       Date:  2004-06       Impact factor: 12.079

3.  A novel KERA mutation associated with autosomal recessive cornea plana.

Authors:  Arif Khan; Amr Al-Saif; Marios Kambouris
Journal:  Ophthalmic Genet       Date:  2004-06       Impact factor: 1.803

4.  Mutations in KERA, encoding keratocan, cause cornea plana.

Authors:  N S Pellegata; J L Dieguez-Lucena; T Joensuu; S Lau; K T Montgomery; R Krahe; T Kivelä; R Kucherlapati; H Forsius; A de la Chapelle
Journal:  Nat Genet       Date:  2000-05       Impact factor: 38.330

Review 5.  Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland.

Authors:  H Forsius; M Damsten; A W Eriksson; J Fellman; S Lindh; E Tahvanainen
Journal:  Acta Ophthalmol Scand       Date:  1998-04

6.  A novel keratocan mutation causing autosomal recessive cornea plana.

Authors:  O J Lehmann; M F El-ashry; N D Ebenezer; L Ocaka; P J Francis; S E Wilkie; R J Patel; L Ficker; T Jordan; P T Khaw; S S Bhattacharya
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-12       Impact factor: 4.799

7.  Superior pellucid marginal corneal degeneration.

Authors:  M S Sridhar; S Mahesh; A K Bansal; G N Rao
Journal:  Eye (Lond)       Date:  2004-04       Impact factor: 3.775
  7 in total
  4 in total

1.  Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.

Authors:  Anthony J Aldave; George O D Rosenwasser; Vivek S Yellore; Jeanette C Papp; Eric M Sobel; Michele N Pham; Michael C Chen; Sugandha Dandekar; Ram Sripracha; Sylvia A Rayner; Joseph W Sassani; Michael B Gorin
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-03-31       Impact factor: 4.799

2.  Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12.

Authors:  Michelle J Kim; Ricardo F Frausto; George O D Rosenwasser; Tina Bui; Derek J Le; Edwin M Stone; Anthony J Aldave
Journal:  PLoS One       Date:  2014-04-23       Impact factor: 3.240

Review 3.  Distribution and Function of Glycosaminoglycans and Proteoglycans in the Development, Homeostasis and Pathology of the Ocular Surface.

Authors:  Sudan Puri; Yvette M Coulson-Thomas; Tarsis F Gesteira; Vivien J Coulson-Thomas
Journal:  Front Cell Dev Biol       Date:  2020-08-07

4.  Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report.

Authors:  Chengzi Huang; Xigui Long; Can Peng; Pengsiyuan Lin; Hu Tan; Weigang Lv; Lingqian Wu
Journal:  Mol Med Rep       Date:  2019-04-11       Impact factor: 2.952
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.