Sathiyavedu T. Santhiya

Dr. ALM PG IBMS, Taramani Campus, 600 113
Chennai, TN, India

Last Updated: 09/26/2026

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Found 10 publications

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

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

Journal: Cell death discovery

Published: July 28, 2022

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

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

Journal: Journal of clinical and diagnostic research : JCDR

Published: January 11, 2017

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

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

Journal: Journal of genetics

Published: December 21, 2016

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

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

Journal: Open access journal of ophthalmology

Published: January 01, 2016

(1S,1'S,2'R,4a'S,9a'S,9b'R)-1'-Acet-yloxy-2,4'-dioxo-2',4',4a',7',8',9',9a',9b'-octa-hydro-1'H,2H-spiro-[ace-naphthyl-ene-1,5'-pyrano[4,3-a]pyrrolizin]-2'-ylmethyl acetate.

(1S,1'S,2'R,4a'S,9a'S,9b'R)-1'-Acet-yloxy-2,4'-dioxo-2',4',4a',7',8',9',9a',9b'-octa-hydro-1'H,2H-spiro-[ace-naphthyl-ene-1,5'-pyrano[4,3-a]pyrrolizin]-2'-ylmethyl acetate.

Journal: Acta crystallographica. Section E, Structure reports online

Published: August 27, 2013

1-(3,5-Di-meth-oxy-phen-yl)-4,5-dimethyl-2-phenyl-1H-imidazole.

1-(3,5-Di-meth-oxy-phen-yl)-4,5-dimethyl-2-phenyl-1H-imidazole.

Journal: Acta crystallographica. Section E, Structure reports online

Published: August 05, 2013

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

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

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: October 08, 2012

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

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

Journal: Investigative ophthalmology & visual science

Published: August 24, 2012

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

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

Journal: Experimental eye research

Published: August 01, 2012

A novel splice site and two known mutations of androgen receptor gene in sex-reversed XY phenotype.

A novel splice site and two known mutations of androgen receptor gene in sex-reversed XY phenotype.

Journal: Genetic testing and molecular biomarkers

Published: July 18, 2012

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Last Updated: 09/26/2026