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Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
Gangodkar P, Khadilkar V, Raghupathy P, Kumar R, Dayal AA, Dayal D, Ayyavoo A, Godbole T, Jahagirdar R, Bhat K, Gupta N, Kamalanathan S, Jagadeesh S, Ranade S, Lohiya N, Oke RL, Ganesan K, Khatod K, Agarwal M, Phadke N, Khadilkar A. Gangodkar P, et al. Among authors: gupta n. Endocrine. 2021 Jan;71(1):189-198. doi: 10.1007/s12020-020-02494-z. Epub 2020 Sep 18. Endocrine. 2021. PMID: 32948948
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
Somashekar PH, Girisha KM, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Narayanan DL, Kaur A, Bajaj S, Jagadeesh S, Lewis LES, Shailaja S, Shukla A. Somashekar PH, et al. Among authors: gupta n. Clin Genet. 2019 Mar;95(3):398-402. doi: 10.1111/cge.13468. Epub 2018 Nov 27. Clin Genet. 2019. PMID: 30394532
Management of Infants with Congenital Adrenal Hyperplasia.
Dabas A, Vats P, Sharma R, Singh P, Seth A, Jain V, Batra P, Gupta N, Kumar R, Kabra M, Kapoor S, Yadav S. Dabas A, et al. Among authors: gupta n. Indian Pediatr. 2020 Feb 15;57(2):159-164. Indian Pediatr. 2020. PMID: 32060243 Free article. Review.
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
Nampoothiri S, Yesodharan D, Bhattacherjee A, Ahamed H, Puri RD, Gupta N, Kabra M, Ranganath P, Bhat M, Phadke S, Radha Rama Devi A, Jagadeesh S, Danda S, Sylaja PN, Mandal K, Bijarnia-Mahay S, Makkar R, Verma IC, Dalal A, Ramaswami U. Nampoothiri S, et al. Among authors: gupta n. JIMD Rep. 2020 Aug 15;56(1):82-94. doi: 10.1002/jmd2.12156. eCollection 2020 Nov. JIMD Rep. 2020. PMID: 33204599 Free PMC article.
Late onset Pompe Disease in India - Beyond the Caucasian phenotype.
Puri RD, Setia N, N V, Jagadeesh S, Nampoothiri S, Gupta N, Muranjan M, Bhat M, Girisha KM, Kabra M, Verma J, Thomas DC, Biji I, Raja J, Makkar R, Verma IC, Kishnani PS. Puri RD, et al. Among authors: gupta n, n v. Neuromuscul Disord. 2021 May;31(5):431-441. doi: 10.1016/j.nmd.2021.02.013. Epub 2021 Feb 16. Neuromuscul Disord. 2021. PMID: 33741225
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM. Bidchol AM, et al. Among authors: gupta n. Am J Med Genet A. 2014 Nov;164A(11):2793-801. doi: 10.1002/ajmg.a.36735. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25252036
Prenatal diagnosis in India is not limited to sex selection.
Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, Sankar VH, Gupta N, Patil SJ, Mandal K, Tamhankar P, Aggarwal S, Agarwal M. Dalal AB, et al. Among authors: gupta n. Genet Med. 2015 Jan;17(1):88. doi: 10.1038/gim.2014.149. Genet Med. 2015. PMID: 25356971 Free article. No abstract available.
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.
Bhavani GS, Shah H, Shukla A, Gupta N, Gowrishankar K, Rao AP, Kabra M, Agarwal M, Ranganath P, Ekbote AV, Phadke SR, Kamath A, Dalal A, Girisha KM. Bhavani GS, et al. Among authors: gupta n. Am J Med Genet A. 2016 Feb;170A(2):410-417. doi: 10.1002/ajmg.a.37447. Epub 2015 Nov 24. Am J Med Genet A. 2016. PMID: 26601801
8,187 results