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Items: 1 to 20 of 98

1.

Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families.

Romero PT, Donoso R, López P, Miranda A, Rodríguez L, Chrzanowsky D, Asenjo MS, Burgos G, Villegas P, Desir J, Moya G, Herrera LM.

Ophthalmic Genet. 2019 Apr;40(2):91-98. doi: 10.1080/13816810.2019.1571615. Epub 2019 Mar 11.

PMID:
30856043
2.

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.

3.

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

Desir J, Abramowicz M.

Orphanet J Rare Dis. 2008 Oct 15;3:28. doi: 10.1186/1750-1172-3-28. Review.

4.

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.

Siddiqui S, Zenteno JC, Rice A, Chacón-Camacho O, Naylor SG, Rivera-de la Parra D, Spokes DM, James N, Toomes C, Inglehearn CF, Ali M.

Cornea. 2014 Mar;33(3):247-51. doi: 10.1097/ICO.0000000000000041.

5.

Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree.

Hand CK, McGuire M, Parfrey NA, Murphy CC.

Ophthalmic Genet. 2017 Mar-Apr;38(2):148-151. doi: 10.3109/13816810.2016.1151901. Epub 2016 Apr 8.

PMID:
27057589
6.
8.

Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.

Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, Nag TC, Vajpayee RB.

Mol Vis. 2010 Dec 31;16:2955-63.

9.

Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation.

Liskova P, Dudakova L, Tesar V, Bednarova V, Kidorova J, Jirsova K, Davidson AE, Hardcastle AJ.

Ophthalmic Res. 2015;53(1):30-5. doi: 10.1159/000365109. Epub 2014 Dec 11.

10.
11.

Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2).

Kaul H, Suman M, Khan Z, Ullah MI, Ashfaq UA, Idrees S.

Clin Exp Optom. 2016 Jan;99(1):73-7. doi: 10.1111/cxo.12276. Epub 2015 Aug 18.

12.

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
13.
14.

Multifunctional ion transport properties of human SLC4A11: comparison of the SLC4A11-B and SLC4A11-C variants.

Kao L, Azimov R, Shao XM, Frausto RF, Abuladze N, Newman D, Aldave AJ, Kurtz I.

Am J Physiol Cell Physiol. 2016 Nov 1;311(5):C820-C830. doi: 10.1152/ajpcell.00233.2016. Epub 2016 Aug 31.

15.

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. doi: 10.1001/archopht.126.5.700.

PMID:
18474783
16.

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. doi: 10.1097/ICO.0b013e3181ae9038.

PMID:
20118786
17.

Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.

Aldave AJ, Yellore VS, Thonar EJ, Udar N, Warren JF, Yoon MK, Cohen EJ, Rapuano CJ, Laibson PR, Margolis TP, Small K.

Am J Ophthalmol. 2004 Mar;137(3):465-73.

PMID:
15013869
18.

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 Aug 2;19:1694-706. Print 2013. Review.

19.

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;33(2):419-28. doi: 10.1002/humu.21655. Epub 2011 Dec 20.

PMID:
22072594
20.

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

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