Kumaramanickavel G - Search Results

1

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: kumaramanickavel g. Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Am J Hum Genet. 2013. PMID: 24290379 Free PMC article. Review.

2

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

Ali M, Ramprasad VL, Soumittra N, Mohamed MD, Jafri H, Rashid Y, Danciger M, McKibbin M, Kumaramanickavel G, Inglehearn CF. Ali M, et al. Among authors: kumaramanickavel g. Mol Vis. 2008;14:1960-4. Epub 2008 Oct 30. Mol Vis. 2008. PMID: 18978954 Free PMC article.

3

Gene symbol: PRPF31.

Mamatha G, Venkataramana A, Srilekha S, Kumaramanickavel G. Mamatha G, et al. Among authors: kumaramanickavel g. Hum Genet. 2007 Feb;120(6):908. Hum Genet. 2007. PMID: 17438597 No abstract available.

4

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. Ramprasad VL, et al. Among authors: kumaramanickavel g. Hum Mutat. 2007 May;28(5):522-3. doi: 10.1002/humu.9487. Hum Mutat. 2007. PMID: 17397048

5

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG. Aleman TS, et al. Among authors: kumaramanickavel g. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5944-54. doi: 10.1167/iovs.09-3982. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578027

6

Molecular genetic analysis of a consanguineous south Indian family with congenital glaucoma: relevance of genetic testing and counseling.

Ramprasad VL, George RJ, Sripriya S, Nirmaladevi J, Vijaya L, Kumaramanickavel G. Ramprasad VL, et al. Among authors: kumaramanickavel g. Ophthalmic Genet. 2007 Mar;28(1):17-24. doi: 10.1080/13816810701199449. Ophthalmic Genet. 2007. PMID: 17454743

7

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.

Ramprasad VL, Soumittra N, Nancarrow D, Sen P, McKibbin M, Williams GA, Arokiasamy T, Lakshmipathy P, Inglehearn CF, Kumaramanickavel G. Ramprasad VL, et al. Among authors: kumaramanickavel g. Mol Vis. 2008 Mar 10;14:481-6. Mol Vis. 2008. PMID: 18334959 Free PMC article.

8

Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.

Soumittra N, Loganathan SK, Madhavan D, Ramprasad VL, Arokiasamy T, Sumathi S, Karthiyayini T, Rachapalli SR, Kumaramanickavel G, Casey JR, Rajagopal R. Soumittra N, et al. Among authors: kumaramanickavel g. J Hum Genet. 2014 Aug;59(8):444-53. doi: 10.1038/jhg.2014.55. Epub 2014 Jul 10. J Hum Genet. 2014. PMID: 25007886

9

Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India.

Ramprasad VL, George R, Soumittra N, Sharmila F, Vijaya L, Kumaramanickavel G. Ramprasad VL, et al. Among authors: kumaramanickavel g. Mol Vis. 2008 Feb 9;14:318-22. Mol Vis. 2008. PMID: 18334947 Free PMC article.

10

Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India.

Shetty R, Nuijts RM, Nanaiah SG, Anandula VR, Ghosh A, Jayadev C, Pahuja N, Kumaramanickavel G, Nallathambi J. Shetty R, et al. Among authors: kumaramanickavel g. BMC Med Genet. 2015 May 12;16:33. doi: 10.1186/s12881-015-0178-x. BMC Med Genet. 2015. PMID: 25963163 Free PMC article.

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