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195 results

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Page 1
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, Khanna V, Jasinge E, Nampoothiri S, Edayankara Kadangot S, Sheth F, Gupta S, Sheth J. Ankleshwaria C, et al. Among authors: nampoothiri s. J Hum Genet. 2014 Apr;59(4):223-8. doi: 10.1038/jhg.2014.5. Epub 2014 Feb 13. J Hum Genet. 2014. PMID: 24522292
Characterization of sSMC by FISH and molecular techniques.
Sheth F, Andrieux J, Ewers E, Kosyakova N, Weise A, Sheth H, Romana SP, LeLorc'h M, Delobel B, Theisen O, Liehr T, Nampoothiri S, Sheth J. Sheth F, et al. Among authors: nampoothiri s. Eur J Med Genet. 2011 May-Jun;54(3):247-55. doi: 10.1016/j.ejmg.2011.01.011. Epub 2011 Mar 3. Eur J Med Genet. 2011. PMID: 21316495
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafé L, Veltman JA, Zabel B, Superti-Furga A. Vissers LE, et al. Among authors: nampoothiri s. Am J Hum Genet. 2011 May 13;88(5):608-15. doi: 10.1016/j.ajhg.2011.04.002. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549340 Free PMC article.
Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation.
Nair KM, Lohse P, Nampoothiri S. Nair KM, et al. Among authors: nampoothiri s. Indian J Hum Genet. 2012 May;18(2):233-4. doi: 10.4103/0971-6866.100776. Indian J Hum Genet. 2012. PMID: 23162302 Free PMC article.
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Unger S, Górna MW, Le Béchec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafé L, Superti-Furga G, Stevenson B, Superti-Furga A. Unger S, et al. Among authors: nampoothiri s. Am J Hum Genet. 2013 Jun 6;92(6):990-5. doi: 10.1016/j.ajhg.2013.04.020. Epub 2013 May 16. Am J Hum Genet. 2013. PMID: 23684011 Free PMC article.
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: s s, nampoothiri s. 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
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, Khanna V, Jasinge E, Nampoothiri S, Edayankara Kadangot S, Sheth F, Gupta S, Sheth J. Ankleshwaria C, et al. Among authors: nampoothiri s. J Hum Genet. 2015 May;60(5):285. doi: 10.1038/jhg.2015.27. J Hum Genet. 2015. PMID: 26008600 No abstract available.
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: nampoothiri s. Clin Genet. 2016 Dec;90(6):496-508. doi: 10.1111/cge.12795. Epub 2016 May 26. Clin Genet. 2016. PMID: 27146977
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
Sheth J, Mistri M, Datar C, Kalane U, Patil S, Kamate M, Shah H, Nampoothiri S, Gupta S, Sheth F. Sheth J, et al. Among authors: nampoothiri s. Mol Genet Metab Rep. 2014 Sep 29;1:425-430. doi: 10.1016/j.ymgmr.2014.09.004. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896118 Free PMC article.
195 results