Soumittra N - Search Results

1

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.

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

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.

4

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

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

Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India.

Sundaramurthy S, Selvakumar A, Dharani V, Soumittra N, Mani J, Thirumalai K, Periyasamy P, Mathavan S, Sripriya S. Sundaramurthy S, et al. Among authors: soumittra n. Mol Vis. 2021 Dec 11;27:718-724. eCollection 2021. Mol Vis. 2021. PMID: 35035206 Free PMC article.

9

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: soumittra n. Clin Genet. 2016 Jun;89(6):690-9. doi: 10.1111/cge.12746. Epub 2016 Mar 4. Clin Genet. 2016. PMID: 26822852

10

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. Among authors: soumittra n. PLoS One. 2015 Jul 6;10(7):e0131679. doi: 10.1371/journal.pone.0131679. eCollection 2015. PLoS One. 2015. PMID: 26147992 Free PMC article.

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