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Journal Abstract Search

358 related items for PubMed ID: 17679935

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  • 3. Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.
    Jiao X, Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Gangopadhyay N, Hejtmancik JF, Kannabiran C.
    J Med Genet; 2007 Jan; 44(1):64-8. PubMed ID: 16825429
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  • 4. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
    Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T.
    Nat Genet; 2006 Jul; 38(7):755-7. PubMed ID: 16767101
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  • 7. Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.
    Hemadevi B, Veitia RA, Srinivasan M, Arunkumar J, Prajna NV, Lesaffre C, Sundaresan P.
    Arch Ophthalmol; 2008 May; 126(5):700-8. PubMed ID: 18474783
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  • 9. Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11.
    Kim JH, Ko JM, Tchah H.
    Ophthalmic Genet; 2015 May; 36(3):284-6. PubMed ID: 24502824
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  • 10. Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene.
    Mehta JS, Hemadevi B, Vithana EN, Arunkumar J, Srinivasan M, Prajna V, Tan DT, Aung T, Sundaresan P.
    Cornea; 2010 Mar; 29(3):302-6. PubMed ID: 20118786
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  • 12. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).
    Desir J, Abramowicz M.
    Orphanet J Rare Dis; 2008 Oct 15; 3():28. PubMed ID: 18922146
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  • 13. Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.
    Vilas GL, Loganathan SK, Quon A, Sundaresan P, Vithana EN, Casey J.
    Hum Mutat; 2012 Feb 15; 33(2):419-28. PubMed ID: 22072594
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  • 14. Coexistence of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy Associated With SLC4A11 Mutations in Affected Families.
    Chaurasia S, Ramappa M, Annapurna M, Kannabiran C.
    Cornea; 2020 Mar 15; 39(3):354-357. PubMed ID: 31714402
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  • 15. Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree.
    Hand CK, McGuire M, Parfrey NA, Murphy CC.
    Ophthalmic Genet; 2017 Mar 15; 38(2):148-151. PubMed ID: 27057589
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  • 16. Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.
    Kodaganur SG, Kapoor S, Veerappa AM, Tontanahal SJ, Sarda A, Yathish S, Prakash DR, Kumar A.
    Mol Vis; 2013 Mar 15; 19():1694-706. PubMed ID: 23922488
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  • 18. SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.
    Firasat S, Dur-E-Shawar, Khan WA, Sughra U, Nousheen, Kaul H, Naz S, Noreen B, Gul R, Afshan K.
    Mol Biol Rep; 2021 Nov 15; 48(11):7467-7476. PubMed ID: 34637099
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  • 19. Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11.
    Aldave AJ, Yellore VS, Bourla N, Momi RS, Khan MA, Salem AK, Rayner SA, Glasgow BJ, Kurtz I.
    Cornea; 2007 Aug 15; 26(7):896-900. PubMed ID: 17667634
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