Santhiya ST - Search Results

1

Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India.

Kandaswamy DK, Prakash MVS, Graw J, Koller S, Magyar I, Tiwari A, Berger W, Santhiya ST. Kandaswamy DK, et al. Among authors: santhiya st. Int J Mol Sci. 2020 Dec 16;21(24):9569. doi: 10.3390/ijms21249569. Int J Mol Sci. 2020. PMID: 33339270 Free PMC article.

2

A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.

Kandaswamy DK, Vasantha K, Graw J, Santhiya ST. Kandaswamy DK, et al. Among authors: santhiya st. Ophthalmic Genet. 2020 Dec;41(6):556-562. doi: 10.1080/13816810.2020.1807027. Epub 2020 Aug 18. Ophthalmic Genet. 2020. PMID: 32811259

3

Furosemide-induced tubular dysfunction responding to prostaglandin synthesis inhibitor therapy in a child with nephrotic syndrome.

Varma TH, Sharma A, Santhiya S, Dawman L, Tiewsoh K. Varma TH, et al. CEN Case Rep. 2018 Nov;7(2):195-197. doi: 10.1007/s13730-018-0324-3. Epub 2018 Mar 22. CEN Case Rep. 2018. PMID: 29568987 Free PMC article.

4

Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model.

Kandaswamy S, Zobel L, John B, Santhiya ST, Bogedein J, Przemeck GKH, Gailus-Durner V, Fuchs H, Biel M, de Angelis MH, Graw J, Michalakis S, Amarie OV. Kandaswamy S, et al. Among authors: santhiya st. Cell Death Discov. 2022 Sep 17;8(1):387. doi: 10.1038/s41420-022-01185-0. Cell Death Discov. 2022. PMID: 36115851 Free PMC article.

5

Enhanced Expression of FRA16B using AT-Rich DNA Binding Chemicals in a Woman with Secondary Amenorrhoea.

Bhavani G, Sivaprakash S, Samuel CR, Santhiya ST. Bhavani G, et al. Among authors: santhiya st. J Clin Diagn Res. 2017 Jun;11(6):QD01-QD03. doi: 10.7860/JCDR/2017/26545.10043. Epub 2017 Jun 1. J Clin Diagn Res. 2017. PMID: 28764253 Free PMC article.

6

Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients.

Saranya B, Bhavani G, Arumugam B, Jayashankar M, Santhiya ST. Saranya B, et al. Among authors: santhiya st. J Genet. 2016 Dec;95(4):911-921. doi: 10.1007/s12041-016-0716-0. J Genet. 2016. PMID: 27994190 Free article.

7

The E368Q Mutant Allele of GJA8 is Associated with Congenital Cataracts with Intrafamilial Variation in a South Indian Family.

Senthil Kumar G, Dinesh Kumar K, Minogue PJ, Berthoud VM, Kannan R, Beyer EC, Santhiya ST. Senthil Kumar G, et al. Among authors: santhiya st. Open Access J Ophthalmol. 2016;1(1):106. Epub 2016 Jul 28. Open Access J Ophthalmol. 2016. PMID: 28530003 Free PMC article.

8

Translocation t(X;11)(q22;q25) in a woman with premature ovarian failure.

Saranya B, Kavitha Devi D, Chandra RS, Jayashankar M, Santhiya ST. Saranya B, et al. Among authors: santhiya st. Sex Dev. 2013;7(4):216-21. doi: 10.1159/000346958. Epub 2013 Feb 16. Sex Dev. 2013. PMID: 23429171

9

An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.

Senthil Kumar G, Kyle JW, Minogue PJ, Dinesh Kumar K, Vasantha K, Berthoud VM, Beyer EC, Santhiya ST. Senthil Kumar G, et al. Among authors: santhiya st. Exp Eye Res. 2013 May;110:136-41. doi: 10.1016/j.exer.2012.10.010. Epub 2012 Oct 29. Exp Eye Res. 2013. PMID: 23116563 Free PMC article.

10

Nonspecific PCR amplification of CRYBB2-pseudogene leads to misconception of natural variation as mutation.

Kumar KD, Kumar GS, Santhiya ST. Kumar KD, et al. Among authors: santhiya st. Invest Ophthalmol Vis Sci. 2012 Aug 22;53(9):5770. doi: 10.1167/iovs.12-10575. Invest Ophthalmol Vis Sci. 2012. PMID: 22915216 No abstract available.

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