Medical Genetics
Dr. Narasimhan Nagan, PHD
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Narasimhan Nagan, PHD works in the field of Medical Genetics. Doctor Narasimhan Nagan, PHD is a published doctor. He has 23 papers published. The most current publication "Isolation of a Chinese hamster fibroblast variant defective in dihydroxyacetonephosphate acyltransferase activity and plasmalogen biosynthesis: use of a novel two-step..."
Publications
- Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.
- Technical standards and guidelines for spinal muscular atrophy testing.
- Cystic fibrosis carrier testing in an ethnically diverse US population.
- Laboratory guidelines for detection, interpretation, and reporting of maternal cell contamination in prenatal analyses a report of the association for molecular pathol...
- Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology.
- REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
- Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.
- Ovarian failure in ataxia with oculomotor apraxia type 2.
- Fragile X premutation in a woman with cognitive impairment, tremor, and history of premature ovarian failure.
- In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.
- A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.
- Role of dihydroxyacetonephosphate acyltransferase in the biosynthesis of plasmalogens and nonether glycerolipids.
- The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.
- Validation of a single nucleotide polymorphism genotyping assay for the human serum paraoxonase gene using electronically active customized microarrays.
- Plasmalogens: biosynthesis and functions.
- Function of the cloned putative neutral sphingomyelinase as lyso-platelet activating factor-phospholipase C.
- Plasmalogens as endogenous antioxidants: somatic cell mutants reveal the importance of the vinyl ether.
- Isolation of a Chinese hamster fibroblast variant defective in dihydroxyacetonephosphate acyltransferase activity and plasmalogen biosynthesis: use of a novel two-step...
- Aminoalkylaziridines as substrates and inhibitors of lysyl oxidase: specific inactivation of the enzyme by N-(5-aminopentyl)aziridine.
- A fibroblast cell line defective in alkyl-dihydroxyacetone phosphate synthase: a novel defect in plasmalogen biosynthesis.
- Expression of lysyl oxidase from cDNA constructs in mammalian cells: the propeptide region is not essential to the folding and secretion of the functional enzyme.
- Modulation of lysyl oxidase activity toward peptidyl lysine by vicinal dicarboxylic amino acid residues. Implications for collagen cross-linking.
Doctors Specialties
- Clinical Molecular Genetics
- Medical Genetics
Accepted Insurances
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