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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: bhat m. 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
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U. Dimopoulou A, et al. Among authors: bhat m. Mol Genet Metab. 2013 Nov;110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24. Mol Genet Metab. 2013. PMID: 24035636
Novel and recurrent mutations in WISP3 and an atypical phenotype.
Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, Girisha KM. Bhavani GS, et al. Among authors: bhat m. Am J Med Genet A. 2015 Oct;167A(10):2481-4. doi: 10.1002/ajmg.a.37164. Epub 2015 May 18. Am J Med Genet A. 2015. PMID: 25988854 No abstract available.
Mutations in ARSB in MPS VI patients in India.
Mathew J, Jagadeesh SM, Bhat M, Udhaya Kumar S, Thiyagarajan S, Srinivasan S. Mathew J, et al. Among authors: bhat m. Mol Genet Metab Rep. 2015 Jul 17;4:53-61. doi: 10.1016/j.ymgmr.2015.06.002. eCollection 2015 Sep. Mol Genet Metab Rep. 2015. PMID: 26937411 Free PMC article.
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad K, Babu AS, Girisha KM, Verma IC, Phadke SR, Mandal K, Puri RD, Aggarwal S, Danda S, Sankar VH, Kapoor S, Bhat M, Gowrishankar K, Hasan AQ, Nair M, Nampoothiri S, Dalal A. Uttarilli A, et al. Among authors: bhat m. Clin Genet. 2016 Dec;90(6):496-508. doi: 10.1111/cge.12795. Epub 2016 May 26. Clin Genet. 2016. PMID: 27146977
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Kabra M, Puri RD, Danda S, Gupta N, Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A. Ranganath P, et al. Among authors: bhat m. Am J Med Genet A. 2016 Oct;170(10):2719-30. doi: 10.1002/ajmg.a.37817. Epub 2016 Jun 24. Am J Med Genet A. 2016. PMID: 27338287
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.
Nampoothiri S, Elcioglu NH, Koca SS, Yesodharan D, Kk C, Krishnan V 5th, Bhat M, Mohandas Nair K, Radhakrishnan N, Kappanayil M, Sheth JJ, Alves S, Coutinho F, Friez MJ, Pauli RM, Unger S, Superti-Furga A, Leroy JG, Cathey SS. Nampoothiri S, et al. Among authors: bhat m. Clin Dysmorphol. 2019 Jan;28(1):7-16. doi: 10.1097/MCD.0000000000000249. Clin Dysmorphol. 2019. PMID: 30507725
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: bhat m. 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.
1,550 results