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Scholar Results 1 - 10 of about 101 related to Jiao: Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations.... (0.11 sec) 

Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations …


X Jiao, A Sultana, P Garg, B Ramamurthy, … - British Medical Journal, 2007 - jmg.bmj.com
Page 1. doi:10.1136/jmg.2006.044644 2007;44;64-68; originally published online
6 Jul 2006; J. Med. Genet. Vemuganti, Nibaran Gangopadhyay ...
Cited by 21 - Related articles - BL Direct - All 5 versions

Genetic analysis of two Indian families affected with congenital hereditary endothelial …


A Kumar, S Bhattacharjee, DR Prakash, CS … - Molecular Vision, 2007 - pubmedcentral.nih.gov
Blood samples were collected from individuals for genomic DNA isolation. In
order to see if these families had mutations in the SLC4A11 gene, we selected 11
microsatellite markers from the CHED2 candidate region and used them to ...
Cited by 11 - Related articles - All 5 versions

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic …


J Desir, G Moya, O Reish, N Van Regemorter … - British Medical Journal, 2007 - jmg.bmj.com
Online First articles must include the digital object identifier (DOIs) and date
of initial publication. establish publication priority; they are indexed by
PubMed from initial publication. Citations to may be posted when available ...
Cited by 14 - Related articles - BL Direct - All 5 versions

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary …


EN Vithana, P Morgan, P Sundaresan, ND … - Nature genetics, 2006 - nature.com
Cited by 38 - Related articles - BL Direct - All 7 versions

Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary …


A Sultana, P Garg, B Ramamurthy, GK … - Mol Vis, 2007 - molvis.org
Methods: Forty-two families (49 affected and 73 unaffected members) with
recessive CHED were recruited according to predefined diagnostic criteria.
Clinical data including age at onset and presentation, pre- and ...
Cited by 8 - Related articles - Cached - All 3 versions

Autosomal recessive CHED associated with novel compound heterozygous mutations in …


AJ Aldave, VS Yellore, N Bourla, RS Momi, … - Cornea, 2007 - journals.lww.com
From the *Cornea Service, The Jules Stein Eye Institute, David Geffen School of
Medicine at UCLA, Los Angeles, CA; the †Department of Pathology, David Geffen
School of Medicine at UCLA, Los Angeles, CA; and the ‡Division of ...
Cited by 8 - Related articles - BL Direct - All 2 versions

Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial …


VL Ramprasad, ND Ebenezer, T Aung, R … - Human mutation, 2007 - ncbi.nlm.nih.gov
Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) is a
severe and rare corneal disorder that presents at birth or shortly thereafter,
characterized by corneal opacification and nystagmus. Recently the gene for ...
Cited by 7 - Related articles - All 2 versions

Identification of mutations in the SLC4A11 gene in patients with recessive congenital …

- aravind.org [PDF] 
B Hemadevi, RA Veitia, M Srinivasan, J … - Archives of Ophthalmology, 2008 - Am Med Assoc
You are seeing this message because your Web browser does not support basic Web
standards. Find out more about why this message is appearing and what you can do
to make your experience on this site better. ... Objective To identify ...
Cited by 5 - Related articles - BL Direct - All 5 versions

Localization of the gene for autosomal recessive congenital hereditary endothelial …


CK Hand, DL Harmon, SM Kennedy, JS … - Genomics, 1999 - Elsevier
Congenital hereditary endothelial dystrophy (CHED) is a corneal disorder that
presents with diffuse bilateral corneal clouding. Vision may be severely
impaired, and many patients require corneal transplantation. Both autosomal ...
Cited by 36 - Related articles - BL Direct - All 5 versions

A further observation of corneal dystrophy and perceptive deafness in two siblings


A Magli, L Capasso, T Foa, V Maurino, V … - Ophthalmic Genetics, 1997 - informahealthcare.com
Abstracts We studied two siblings with the rare association of corneal dystrophy
and perceptive deafness (Harboyan syndrome). To our knowl- edge, this is the
third description of this hereditary disorder. The results of the clinical, ...
Cited by 7 - Related articles - BL Direct - All 3 versions


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