Soumittra N - Search Results

1

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: soumittra n. Mol Vis. 2008 Feb 9;14:318-22. Mol Vis. 2008. PMID: 18334947 Free PMC article.

2

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: soumittra n. Mol Vis. 2008 Mar 10;14:481-6. Mol Vis. 2008. PMID: 18334959 Free PMC article.

3

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: soumittra n. Mol Vis. 2008;14:1960-4. Epub 2008 Oct 30. Mol Vis. 2008. PMID: 18978954 Free PMC article.

4

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus.

Fan BJ, Chen X, Sondhi N, Sharmila PF, Soumittra N, Sripriya S, Sacikala S, Asokan R, Friedman DS, Pasquale LR, Gao XR, Vijaya L, Cooke Bailey J, Vitart V, MacGregor S, Hammond CJ, Khor CC, Haines JL, George R, Wiggs JL; Mexican American Glaucoma Genetic Study; International Glaucoma Genetics Consortium; and NEIGHBORHOOD Consortium. Fan BJ, et al. Among authors: soumittra n. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2495-2502. doi: 10.1167/iovs.17-23536. Invest Ophthalmol Vis Sci. 2018. PMID: 29847655 Free PMC article.

5

RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases.

Joseph B, Srinivasan A, Soumittra N, Vidhya A, Shetty NS, Uthra S, Kumaramanickavel G. Joseph B, et al. Among authors: soumittra n. J Genet. 2002 Apr;81(1):19-23. doi: 10.1007/BF02715866. J Genet. 2002. PMID: 12357075 Free article.

6

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. 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

7

Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.

Malaichamy S, Sen P, Sachidanandam R, Arokiasamy T, Lancelot ME, Audo I, Zeitz C, Soumittra N. Malaichamy S, et al. Among authors: soumittra n. Mol Vis. 2014 Mar 21;20:341-51. eCollection 2014. Mol Vis. 2014. PMID: 24715752 Free PMC article.

8

Ophthatome™: an integrated knowledgebase of ophthalmic diseases for translating vision research into the clinic.

Raj P, Tejwani S, Sudha D, Muthu Narayanan B, Thangapandi C, Das S, Somasekar J, Mangalapudi S, Kumar D, Pindipappanahalli N, Shetty R, Ghosh A, Kumaramanickavel G, Chaudhuri A, Soumittra N. Raj P, et al. Among authors: soumittra n. BMC Ophthalmol. 2020 Nov 10;20(1):442. doi: 10.1186/s12886-020-01705-5. BMC Ophthalmol. 2020. PMID: 33172432 Free PMC article.

9

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: soumittra n. 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

10

Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study.

Rao BS, Tharigopala A, Rachapalli SR, Rajagopal R, Soumittra N. Rao BS, et al. Among authors: soumittra n. Indian J Ophthalmol. 2017 Oct;65(10):931-935. doi: 10.4103/ijo.IJO_191_17. Indian J Ophthalmol. 2017. PMID: 29044056 Free PMC article.

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