Dhanjit Kumar Das

Summary

Publications

  1. doi request reprint Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome
    Dhanjit Kumar Das
    Genetic Research Centre, National Institute for Research in Reproductive Health ICMR, Jahangir Merwanji Street, Parel, Mumbai 400 012, India Electronic address
    Gene 538:109-12. 2014
  2. doi request reprint Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome
    Dhanjit Kumar Das
    Genetic Research Centre, National Institute for Research in Reproductive Heatlh, Mumbai, India
    J Clin Lab Anal 27:137-42. 2013
  3. doi request reprint Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome
    Dhanjit Kumar Das
    Genetic Research Centre, National Institute for Research in Reproductive Health ICMR, Jahangir Merwanji Street, Parel, Mumbai, 400 012, India
    Neuromolecular Med 15:218-25. 2013
  4. doi request reprint Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations
    Dhanjit Kumar Das
    Genetic Research Centre, National Institute for Research in Reproductive Health ICMR, Jahangir Merwanji Street, Parel, Mumbai 400 012, India
    Gene 515:78-83. 2013
  5. doi request reprint Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods
    Dhanjit Kumar Das
    Genetic Research Centre, National Institute for Research in Reproductive Health ICMR, Jahangir Merwanji Street, Parel, Mumbai 400 012, India
    Eur J Med Genet 54:e529-34. 2011
  6. pmc Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India
    Lakshmi Vasudevan
    Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai
    J Clin Res Pediatr Endocrinol 5:121-4. 2013

Collaborators

  • Lakshmi Vasudevan
  • Daksha Sanghavi
  • Parag M Tamhankar
  • Shiny Babu
  • Rajesh Joshi
  • Sudha Rao

Detail Information

Publications6

  1. doi request reprint Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome
    Dhanjit Kumar Das
    Genetic Research Centre, National Institute for Research in Reproductive Health ICMR, Jahangir Merwanji Street, Parel, Mumbai 400 012, India Electronic address
    Gene 538:109-12. 2014
    ..This is the first report from India showing mutation in FOXG1 gene in Rett syndrome...
  2. doi request reprint Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome
    Dhanjit Kumar Das
    Genetic Research Centre, National Institute for Research in Reproductive Heatlh, Mumbai, India
    J Clin Lab Anal 27:137-42. 2013
    ..C339S in MECP2 gene. The preliminary result necessitates a large-scale study of RTT patients to determine more precisely the influence of MECP2 mutations in Indian patients and their correlation with clinical phenotypes...
  3. doi request reprint Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome
    Dhanjit Kumar Das
    Genetic Research Centre, National Institute for Research in Reproductive Health ICMR, Jahangir Merwanji Street, Parel, Mumbai, 400 012, India
    Neuromolecular Med 15:218-25. 2013
    ..This is the first report from India showing the mutation in CDKL5 gene in Indian cases of Rett syndrome. Our study emphasizes the role of CDKL5 mutation screening in cases of atypical Rett syndrome with congenital seizure variant...
  4. doi request reprint Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations
    Dhanjit Kumar Das
    Genetic Research Centre, National Institute for Research in Reproductive Health ICMR, Jahangir Merwanji Street, Parel, Mumbai 400 012, India
    Gene 515:78-83. 2013
    ..The majority of mutations are detected in exon 4 and only one mutation was present in exon 3. Therefore, our study suggests the need for screening exon 4 of MECP2 as first line of diagnosis in these patients...
  5. doi request reprint Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods
    Dhanjit Kumar Das
    Genetic Research Centre, National Institute for Research in Reproductive Health ICMR, Jahangir Merwanji Street, Parel, Mumbai 400 012, India
    Eur J Med Genet 54:e529-34. 2011
    ..D90del mutant revealed that the mutation could seriously perturb the interaction of DHH with its binding partners. This is the second report in literature showing homozygous mutation in cases with 46,XY complete gonadal dysgenesis...
  6. pmc Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India
    Lakshmi Vasudevan
    Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai
    J Clin Res Pediatr Endocrinol 5:121-4. 2013
    ..815delG by molecular testing wherein the fetus was found to be homozygous for the mutation. This is the first report of molecular diagnosis and prenatal testing for LCAH from India...