Das DK - Search Results

1

Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India.

Vasudevan L, Joshi R, Das DK, Rao S, Sanghavi D, Babu S, Tamhankar PM. Vasudevan L, et al. Among authors: das dk. J Clin Res Pediatr Endocrinol. 2013;5(2):121-4. doi: 10.4274/Jcrpe.927. J Clin Res Pediatr Endocrinol. 2013. PMID: 23748066 Free PMC article.

2

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.

Das DK, Sanghavi D, Gawde H, Idicula-Thomas S, Vasudevan L. Das DK, et al. Eur J Med Genet. 2011 Nov-Dec;54(6):e529-34. doi: 10.1016/j.ejmg.2011.04.010. Epub 2011 Jul 23. Eur J Med Genet. 2011. PMID: 21816240

3

Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.

Das DK, Mehta B, Menon SR, Raha S, Udani V. Das DK, et al. Neuromolecular Med. 2013 Mar;15(1):218-25. doi: 10.1007/s12017-012-8212-z. Epub 2012 Dec 15. Neuromolecular Med. 2013. PMID: 23242510

4

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.

Das DK, Raha S, Sanghavi D, Maitra A, Udani V. Das DK, et al. Gene. 2013 Feb 15;515(1):78-83. doi: 10.1016/j.gene.2012.11.024. Epub 2012 Dec 20. Gene. 2013. PMID: 23262346

5

Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome.

Das DK, Udani V, Sanghavi D, Adhia R, Maitra A. Das DK, et al. J Clin Lab Anal. 2013 Mar;27(2):137-42. doi: 10.1002/jcla.21574. Epub 2013 Feb 11. J Clin Lab Anal. 2013. PMID: 23400946 Free PMC article.

6

Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex development.

Das DK, Rahate SG, Mehta BP, Gawde HM, Tamhankar PM. Das DK, et al. Indian J Hum Genet. 2013 Oct;19(4):437-42. doi: 10.4103/0971-6866.124372. Indian J Hum Genet. 2013. PMID: 24497709 Free PMC article.

7

Phenotypic variability in congenital lipoid adrenal hyperplasia.

Joshi R, Das D, Tamhankar P, Shaikh S. Joshi R, et al. Indian Pediatr. 2014 May;51(5):399-400. Indian Pediatr. 2014. PMID: 24953586 Free article.

8

Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.

Tamhankar PM, Vasudevan L, Bansal V, Menon SR, Gawde HM, D'Souza A, Babu S, Kondurkar S, Adhia R, Das DK. Tamhankar PM, et al. Among authors: das dk. Eur J Med Genet. 2015 Aug;58(8):392-9. doi: 10.1016/j.ejmg.2015.06.002. Epub 2015 Jun 24. Eur J Med Genet. 2015. PMID: 26117586

9

Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome.

Das DK, Jadhav V, Ghattargi VC, Udani V. Das DK, et al. Gene. 2014 Mar 15;538(1):109-12. doi: 10.1016/j.gene.2013.12.063. Epub 2014 Jan 9. Gene. 2014. PMID: 24412290

10

Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation.

Saha D, Kothari S, Kulkarni SD, Thambiraja M, Yennamalli RM, Das DK. Saha D, et al. Among authors: das dk. Mitochondrion. 2024 May;76:101870. doi: 10.1016/j.mito.2024.101870. Epub 2024 Mar 11. Mitochondrion. 2024. PMID: 38471579

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