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Results: 1 to 20 of 108

1.

Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.

Nowak DM, Karolak JA, Kubiak J, Gut M, Pitarque JA, Molinari A, Bejjani BA, Gajecka M.

Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2207-15. doi: 10.1167/iovs.13-11592.

PMID:
23462747
[PubMed - indexed for MEDLINE]
Free Article
2.

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

Karolak JA, Kulinska K, Nowak DM, Pitarque JA, Molinari A, Rydzanicz M, Bejjani BA, Gajecka M.

Mol Vis. 2011 Mar 30;17:827-43.

PMID:
21527998
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.

Czugala M, Karolak JA, Nowak DM, Polakowski P, Pitarque J, Molinari A, Rydzanicz M, Bejjani BA, Yue BY, Szaflik JP, Gajecka M.

Eur J Hum Genet. 2012 Apr;20(4):389-97. doi: 10.1038/ejhg.2011.203. Epub 2011 Nov 2.

PMID:
22045297
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus.

Saee-Rad S, Hashemi H, Miraftab M, Noori-Daloii MR, Chaleshtori MH, Raoofian R, Jafari F, Greene W, Fakhraie G, Rezvan F, Heidari M.

Mol Vis. 2011;17:3128-36. Epub 2011 Nov 30.

PMID:
22171159
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.

Gajecka M, Radhakrishna U, Winters D, Nath SK, Rydzanicz M, Ratnamala U, Ewing K, Molinari A, Pitarque JA, Lee K, Leal SM, Bejjani BA.

Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1531-9. doi: 10.1167/iovs.08-2173. Epub 2008 Nov 14.

PMID:
19011015
[PubMed - indexed for MEDLINE]
Free Article
6.

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]
Free PMC Article
7.

Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.

Karolak JA, Polakowski P, Szaflik J, Szaflik JP, Gajecka M.

Ophthalmic Genet. 2014 Jun 18:1-7. [Epub ahead of print]

PMID:
24940934
[PubMed - as supplied by publisher]
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.

PMID:
21203343
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

Association of -31T>C and -511 C>T polymorphisms in the interleukin 1 beta (IL1B) promoter in Korean keratoconus patients.

Kim SH, Mok JW, Kim HS, Joo CK.

Mol Vis. 2008;14:2109-16. Epub 2008 Nov 21.

PMID:
19043479
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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]
Free Article
12.

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.

PMID:
23922488
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Common single nucleotide polymorphisms and keratoconus in the Han Chinese population.

Wang Y, Jin T, Zhang X, Wei W, Cui Y, Geng T, Liu Q, Gao J, Liu M, Chen C, Zhang C, Zhu X.

Ophthalmic Genet. 2013 Sep;34(3):160-6. doi: 10.3109/13816810.2012.743569. Epub 2013 Jan 4.

PMID:
23289806
[PubMed - indexed for MEDLINE]
14.

Identification of the p. R116H mutation in a Chinese family with novel variable cataract phenotype: evidence for a mutational hot spot in αA-crystallin gene.

Wang B, Wang KJ, Zhu SQ, Wang J, Ma X.

Ophthalmic Genet. 2012 Sep;33(3):134-8. doi: 10.3109/13816810.2011.642451. Epub 2012 Jan 4.

PMID:
22216983
[PubMed - indexed for MEDLINE]
15.

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.

Burdon KP, Coster DJ, Charlesworth JC, Mills RA, Laurie KJ, Giunta C, Hewitt AW, Latimer P, Craig JE.

Hum Genet. 2008 Nov;124(4):379-86. doi: 10.1007/s00439-008-0555-z. Epub 2008 Sep 5.

PMID:
18795334
[PubMed - indexed for MEDLINE]
16.

Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.

Hemadevi B, Srinivasan M, Arunkumar J, Prajna NV, Sundaresan P.

BMC Ophthalmol. 2010 Feb 10;10:3. doi: 10.1186/1471-2415-10-3.

PMID:
20144242
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family.

Shah SS, Al-Rajhi A, Brandt JD, Mannis MJ, Roos B, Sheffield VC, Syed NA, Stone EM, Fingert JH.

Ophthalmic Genet. 2008 Mar;29(1):41-5. doi: 10.1080/13816810701850033.

PMID:
18363173
[PubMed - indexed for MEDLINE]
18.

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.

Zhang X, Wang L, Wang J, Dong B, Li Y.

Mol Vis. 2012;18:203-10. Epub 2012 Jan 25.

PMID:
22312188
[PubMed - indexed for MEDLINE]
Free PMC Article
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;26(7):896-900.

PMID:
17667634
[PubMed - indexed for MEDLINE]
20.

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.

Riazuddin SA, Vithana EN, Seet LF, Liu Y, Al-Saif A, Koh LW, Heng YM, Aung T, Meadows DN, Eghrari AO, Gottsch JD, Katsanis N.

Hum Mutat. 2010 Nov;31(11):1261-8. doi: 10.1002/humu.21356. Epub 2010 Oct 14.

PMID:
20848555
[PubMed - indexed for MEDLINE]
Free PMC Article

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