Recent Publications

 

  • Sheth JJ, Sheth F.J., Oza NJ, Gambhir PS, Dave UP, Shah RC (2010): Plasma Chitotriosidase activity in children with lysosomal storage disorders. Ind. J. Pediatr. 77; 203-205

  • Frenny Sheth, Joris Andrieux, Jayesh Sheth (2010). Marker chromosome in a child with microcephaly and mental retardation characterize by array-CGH as trisomy 18p. Ind Pediatr 47; 277-279

  • Sheth FJ, Ewers E, Kosyakova N, Weise A, Sheth JJ, Desai M, Andrieux J, Vermeesch J, Ziegler M, Liehr T (2009).  Small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome – a case report. Molecular Cytogenet 2: 22

  • Sheth FJ, Ewers E, Kosyakova N, Weise A, Sheth J, Patil S, Ziegler M, Liehr T (2009): A neocentric isochromosome Yp present as additional small supernumerary marker chromosome – evidence against U-type exchange mechanism? Cytogenetic Genome Research 125(2); 115-116
     
  • Andrieux Joris, Sheth Frenny (2009): CGH-Array study and its utility in children for detection of Constitutional and Acquired anomalies. Ind J Exp Biol. 47; 779-791

  • Vinci G, Brauner R, Tar A, Rouba H, Sheth JJ, Sheth FJ, Raval C, McElreavey K, Bashamboo A (2009): Mutations in the TSPYL1 gene associated with 46,XY DSD and male infertility. Fertility Sterility 92(4); 1347-1350

  • Sheth JJ, Oza N, Mistri M, NAik P, Kumar S, Sheth FJ (2009): Mucolipidosis type II (I-Cell) in two children with skeletal abnormality, dysmorphism and hepotasplenomaghaly. Pediatriconcall Vol-6, Art 24, 29-29

  • Sheth F. J, Sodhan Anura (2009): Double aneuploidy in a child with Down Syndrome Ind. Pediatr. 46: 359-360.

  • Sheth JJ., Sheth FJ., Pooja Pandya., Rashi Priya., Sejal Davla (2008): Establishment of database for different mutations of ?-globin gene for ?-thalassaemia with respect to different communities in the population of Gujarat. Ind. J Pediatr . 75(6):567-570.

  • Jayesh J Sheth, Frenny J Sheth, Nrupesh Oza (2008): Niemann-Pick Type ‘C’ Disease: A case report. Ind. Peditr. 45: 505-507

  • Sheth Jayesh J., Sheth Frenny J., Oza Nrupesh J., Doshi Minesh H. (2008): Triple maker study in midtrimestor of pregnancy and risk of chromosomal abnormality: An Indian Experience. Ind. J Obstet. Gynec. 58(2),142-146.
 



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