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Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).

Desir J, Abramowicz M.

Orphanet J Rare Dis. 2008 Oct 15;3:28. Review.PMID: 18922146 [PubMed - indexed for MEDLINE]Related articlesFree article

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

Desir J, Moya G, Reish O, Van Regemorter N, Deconinck H, David KL, Meire FM, Abramowicz MJ.

J Med Genet. 2007 May;44(5):322-6. Epub 2007 Jan 12.PMID: 17220209 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2006 Jul 6. Erratum in: J Med Genet. 2007 Jun;44(6):407.. PMID: 16825429 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy.

Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Kannabiran C.

Mol Vis. 2007 Jul 26;13:1327-32.PMID: 17679935 [PubMed - indexed for MEDLINE]Related articlesFree article

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;26(7):896-900.PMID: 17667634 [PubMed - indexed for MEDLINE]Related articles

Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11.

Kumar A, Bhattacharjee S, Prakash DR, Sadanand CS.

Mol Vis. 2007 Jan 16;13:39-46.PMID: 17262014 [PubMed - indexed for MEDLINE]Related articlesFree article

Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping.

Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA.

Genomics. 1999 Oct 1;61(1):1-4.PMID: 10512674 [PubMed - indexed for MEDLINE]Related articles

Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13.

Abramowicz MJ, Albuquerque-Silva J, Zanen A.

J Med Genet. 2002 Feb;39(2):110-2.PMID: 11836359 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 18474783 [PubMed - indexed for MEDLINE]Related articlesFree article

Results of penetrating keratoplasty in CHED. Congenital hereditary endothelial dystrophy.

Sajjadi H, Javadi MA, Hemmati R, Mirdeghan A, Parvin M, Nassiri N.

Cornea. 1995 Jan;14(1):18-25.PMID: 7712731 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2006 Jun 11.PMID: 16767101 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 20118786 [PubMed - in process]Related articles

Analysis of a cohort of children with sensory hearing loss using the SCALE systematic nomenclature.

Sculerati N.

Laryngoscope. 2000 May;110(5 Pt 1):787-98.PMID: 10807358 [PubMed - indexed for MEDLINE]Related articles

Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome)

Puga AC, Nogueira AH, Félix TM, Kwitko S.

Am J Med Genet. 1998 Nov 2;80(2):177-9. No abstract available. PMID: 9805138 [PubMed - indexed for MEDLINE]Related articles

Subepithelial amyloid deposits in congenital hereditary endothelial dystrophy: a histopathologic study of five cases.

Vemuganti GK, Sridhar MS, Edward DP, Singh S.

Cornea. 2002 Jul;21(5):524-9.PMID: 12072731 [PubMed - indexed for MEDLINE]Related articles

Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties.

Colville D, Wang YY, Jamieson R, Collins F, Hood J, Savige J.

Ophthalmic Genet. 2000 Dec;21(4):217-25.PMID: 11135492 [PubMed - indexed for MEDLINE]Related articles

Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.

Ramprasad VL, Ebenezer ND, Aung T, Rajagopal R, Yong VH, Tuft SJ, Viswanathan D, El-Ashry MF, Liskova P, Tan DT, Bhattacharya SS, Kumaramanickavel G, Vithana EN.

Hum Mutat. 2007 May;28(5):522-3.PMID: 17397048 [PubMed - indexed for MEDLINE]Related articles

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.PMID: 19728970 [PubMed - indexed for MEDLINE]Related articles

Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy.

Judisch GF, Maumenee IH.

Am J Ophthalmol. 1978 May;85(5 Pt 1):606-12.PMID: 306759 [PubMed - indexed for MEDLINE]Related articles

Slc4a11 gene disruption in mice: cellular targets of sensorineuronal abnormalities.

Lopez IA, Rosenblatt MI, Kim C, Galbraith GC, Jones SM, Kao L, Newman D, Liu W, Yeh S, Pushkin A, Abuladze N, Kurtz I.

J Biol Chem. 2009 Sep 25;284(39):26882-96. Epub 2009 Jul 8.PMID: 19586905 [PubMed - indexed for MEDLINE]Related articles