Srilekha S - Search Results

1

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.

Neuillé M, Malaichamy S, Vadalà M, Michiels C, Condroyer C, Sachidanandam R, Srilekha S, Arokiasamy T, Letexier M, Démontant V, Sahel JA, Sen P, Audo I, Soumittra N, Zeitz C. Neuillé M, et al. Among authors: srilekha s. Clin Genet. 2016 Jun;89(6):690-9. doi: 10.1111/cge.12746. Epub 2016 Mar 4. Clin Genet. 2016. PMID: 26822852

2

Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing.

Srikrupa NN, Srilekha S, Sen P, Arokiasamy T, Meenakshi S, Bhende M, Kapur S, Soumittra N. Srikrupa NN, et al. Among authors: srilekha s. Clin Genet. 2018 Feb;93(2):329-339. doi: 10.1111/cge.13159. Clin Genet. 2018. PMID: 29068479

3

Strategies for Gene Mapping in Inherited Ophthalmic Diseases.

Srilekha S, Rao B, Rao DM, Sudha D, Chandrasekar SP, Pandian AJ, Soumittra N, Sripriya S. Srilekha S, et al. Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):282-92. doi: 10.1097/APO.0000000000000228. Asia Pac J Ophthalmol (Phila). 2016. PMID: 27488070 Free article. Review.

4

Gene symbol: PRPF31.

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

5

Gene symbol: PRPF31. Disease: retinitis pigmentosa--autosomal dominant.

Gandra M, Srilekha S, Kumamaramanickavel G. Gandra M, et al. Among authors: srilekha s. Hum Genet. 2005 Dec;118(3-4):548. Hum Genet. 2005. PMID: 16521310 No abstract available.

6

Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.

Sen P, Srikrupa N, Maitra P, Srilekha S, Porkodi P, Gnanasekaran H, Bhende M, Khetan V, Mathavan S, Bhende P, Ratra D, Raman R, Rao C, Sripriya S. Sen P, et al. Among authors: srilekha s. Indian J Ophthalmol. 2023 Jun;71(6):2512-2520. doi: 10.4103/IJO.IJO_2579_22. Indian J Ophthalmol. 2023. PMID: 37322672 Free PMC article.

7

Author Response: Penetrance of the LHON Mutation m.11778G>A May Depend on Factors Other Than Haplotype or Heteroplasmy Rate.

Khan NA, Govindaraj P, Soumittra N, Sharma S, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Bindu PS, Gayathri N, Taly AB, Thangaraj K. Khan NA, et al. Among authors: srilekha s. Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):382. doi: 10.1167/iovs.17-23468. Invest Ophthalmol Vis Sci. 2018. PMID: 29346803 No abstract available.

8

Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.

Khan NA, Govindaraj P, Soumittra N, Sharma S, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Bindu PS, Gayathri N, Taly AB, Thangaraj K. Khan NA, et al. Among authors: srilekha s. Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3923-3930. doi: 10.1167/iovs.16-20695. Invest Ophthalmol Vis Sci. 2017. PMID: 28768321

9

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

Srilekha S, Arokiasamy T, Srikrupa NN, Umashankar V, Meenakshi S, Sen P, Kapur S, Soumittra N. Srilekha S, et al. PLoS One. 2015 Jul 6;10(7):e0131679. doi: 10.1371/journal.pone.0131679. eCollection 2015. PLoS One. 2015. PMID: 26147992 Free PMC article.

10

Haplogroup heterogeneity of LHON patients carrying the m.14484T>C mutation in India.

Khan NA, Govindaraj P, Soumittra N, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Taly AB, Bindu PS, Gayathri N, Thangaraj K. Khan NA, et al. Among authors: srilekha s. Invest Ophthalmol Vis Sci. 2013 Jun 10;54(6):3999-4005. doi: 10.1167/iovs.13-11925. Invest Ophthalmol Vis Sci. 2013. PMID: 23674761

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