Learn More
OBJECTIVES To test for PTPN11 mutations in clinically diagnosed cases of Noonan syndrome. METHODS Seventeen individuals with clinical diagnosis of Noonan syndrome were included in the study. Sanger sequencing of all the 15 exons of PTPN11 was done. A genotype-phenotype correlation was attempted. RESULTS Mutation in PTPN11 was detected in 11 out of 17(More)
Urinary aspartate-transaminase activity in the whole urine was found to be mean +/- S.D. = 8.46 +/- 0.69 l.U/l when measured immediately after urine collection. About 50% loss in enzyme activity was observed after 18 hours dialysis. An overall 176% increase in enzyme activity followed by Sephadex G-25 (fine) whole urine fractionation and a highly(More)
Nine healthy volunteers and 25 tropical pulmonary eosinophilia (TPE) patients were used to study circadian variations of absolute eosinophil count (AEC) and serum histaminase activity (SHA). A marked circadian variation was found in AEC for healthy volunteers and TPE patients with the worst symptoms in the late evening and morning hours only; no rhythm(More)
Circadian periodicity of plasma, breast milk and urinary calcium was studied in six lactating Indian women. Peak plasma calcium was recorded at 2000 with a progressive decline during the rest of the period reaching a minimum at 0800. Breast milk calcium was found to be maximum at 0200 and decreased consistently reaching a minimum at 2000. Maximum urinary(More)
Dynamics of microbial population during the aggradation phase of a selectively logged subtropical humid forest in northeast India. Tropical Ecology 38:333-341. In press. Summary of methods used in the Nanga Gaat logging camp case study. comparison of different harvesting intensities with reduced-impact and conventional logging Effects of logging on the(More)
We describe three consanguineous Indian families with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). It is an autosomal recessive disorder due to mutation in CHST3 gene. CHST3 gene encodes the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1) which mediates the sulfation of proteoglycans, (chondroitin sulfate), in the extracellular(More)
  • 1