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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. 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.
Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.
Bashyam MD, Chaudhary AK, Reddy EC, Devi AR, Savithri GR, Ratheesh R, Bashyam L, Mahesh E, Sen D, Puri R, Verma IC, Nampoothiri S, Vaidyanathan S, Chandrashekar MD, Kantheti P. Bashyam MD, et al. Among authors: nampoothiri s. Mol Genet Metab. 2010 May;100(1):96-9. doi: 10.1016/j.ymgme.2010.01.016. Epub 2010 Feb 2. Mol Genet Metab. 2010. PMID: 20188615
Fanconi-Bickel syndrome.
Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S. Mohandas Nair K, et al. Among authors: nampoothiri s. Indian J Pediatr. 2012 Jan;79(1):112-4. doi: 10.1007/s12098-011-0373-5. Epub 2011 Feb 15. Indian J Pediatr. 2012. PMID: 21327337
Sirenomelia: case reports and current concepts of pathogenesis.
Pillay M, Yesodharan D, Narayanan DL, Jojo A, Luiz N, Nampoothiri S. Pillay M, et al. Among authors: nampoothiri s. Pediatr Dev Pathol. 2012 Sep-Oct;15(5):403-6. doi: 10.2350/12-05-1199-CC.1. Epub 2012 Jul 20. Pediatr Dev Pathol. 2012. PMID: 22816558
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
Dalal A, Bhavani G SL, Togarrati PP, Bierhals T, Nandineni MR, Danda S, Danda D, Shah H, Vijayan S, Gowrishankar K, Phadke SR, Bidchol AM, Rao AP, Nampoothiri S, Kutsche K, Girisha KM. Dalal A, et al. Among authors: nampoothiri s. Am J Med Genet A. 2012 Nov;158A(11):2820-8. doi: 10.1002/ajmg.a.35620. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987568
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.
Nampoothiri S, Yesodharan D, Sainulabdin G, Narayanan D, Padmanabhan L, Girisha KM, Cathey SS, De Paepe A, Malfait F, Syx D, Hennekam RC, Bonafe L, Unger S, Superti-Furga A. Nampoothiri S, et al. Am J Med Genet A. 2014 Sep;164A(9):2317-23. doi: 10.1002/ajmg.a.36668. Epub 2014 Jul 14. Am J Med Genet A. 2014. PMID: 25044831
202 results