Kannabiran C - Search Results

1

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Georgiou G, Riazuddin SA, Ayyagari R. Biswas P, et al. Among authors: kannabiran c. Hum Mol Genet. 2016 Jun 15;25(12):2483-2497. doi: 10.1093/hmg/ddw113. Epub 2016 Apr 22. Hum Mol Genet. 2016. PMID: 27106100 Free PMC article.

2

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.

Kannabiran C, Rogan PK, Olmos L, Basti S, Rao GN, Kaiser-Kupfer M, Hejtmancik JF. Kannabiran C, et al. Mol Vis. 1998 Oct 23;4:21. Mol Vis. 1998. PMID: 9788845 Free article.

3

Screening for homozygosity by descent in families with autosomal recessive retinitis pigmentosa.

Lalitha K, Jalali S, Kadakia T, Kannabiran C. Lalitha K, et al. Among authors: kannabiran c. J Genet. 2002 Aug;81(2):59-63. doi: 10.1007/BF02715901. J Genet. 2002. PMID: 12532037 Free article.

4

Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.

Singh HP, Jalali S, Hejtmancik JF, Kannabiran C. Singh HP, et al. Among authors: kannabiran c. Am J Ophthalmol. 2006 May;141(5):906-13. doi: 10.1016/j.ajo.2005.12.009. Epub 2006 Mar 20. Am J Ophthalmol. 2006. PMID: 16546111

5

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. Jiao X, et al. Among authors: kannabiran c. J Med Genet. 2007 Jan;44(1):64-8. doi: 10.1136/jmg.2006.044644. Epub 2006 Jul 6. J Med Genet. 2007. PMID: 16825429 Free PMC article.

6

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, Jalali S, Hawes NL, Branham K, Othman M, Filippova E, Thompson DA, Webster AR, Andréasson S, Jacobson SG, Bhattacharya SS, Heckenlively JR, Swaroop A. Friedman JS, et al. Among authors: kannabiran c. Am J Hum Genet. 2006 Dec;79(6):1059-70. doi: 10.1086/510021. Epub 2006 Oct 23. Am J Hum Genet. 2006. PMID: 17186464 Free PMC article.

7

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

Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Kannabiran C. Sultana A, et al. Among authors: kannabiran c. Mol Vis. 2007 Jul 26;13:1327-32. Mol Vis. 2007. PMID: 17679935

8

A missense mutation in LIM2 causes autosomal recessive congenital cataract.

Ponnam SP, Ramesha K, Tejwani S, Matalia J, Kannabiran C. Ponnam SP, et al. Among authors: kannabiran c. Mol Vis. 2008 Jun 23;14:1204-8. Mol Vis. 2008. PMID: 18596884 Free PMC article.

9

Genetics of corneal endothelial dystrophies.

Kannabiran C. Kannabiran C. J Genet. 2009 Dec;88(4):487-94. doi: 10.1007/s12041-009-0067-1. J Genet. 2009. PMID: 20090209 Free article. Review.

10

Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23.

Kannabiran C, Singh HP, Jalali S. Kannabiran C, et al. Hum Genet. 2012 May;131(5):717-23. doi: 10.1007/s00439-011-1115-5. Epub 2011 Nov 15. Hum Genet. 2012. PMID: 22083234

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