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Page 1
Nail-patella syndrome-a novel mutation in the LMX1B gene.
Nair RR, Unni VN, Indu KN, Nampoothiri S, Mathew A, Kurian G, Vimala A. Nair RR, et al. Among authors: nampoothiri s. Clin Kidney J. 2013 Jun;6(3):305-7. doi: 10.1093/ckj/sft035. Epub 2013 Apr 25. Clin Kidney J. 2013. PMID: 26064490 Free PMC article.
Prenatal diagnosis of nail patella syndrome: A case report.
Padmanabhan LD, Yesodharan D, Nampoothiri S. Padmanabhan LD, et al. Among authors: nampoothiri s. Indian J Radiol Imaging. 2017 Jul-Sep;27(3):329-331. doi: 10.4103/ijri.IJRI_438_16. Indian J Radiol Imaging. 2017. PMID: 29089684 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: nampoothiri s. Clin Genet. 2016 Dec;90(6):496-508. doi: 10.1111/cge.12795. Epub 2016 May 26. Clin Genet. 2016. PMID: 27146977
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
Kappanayil M, Nampoothiri S, Kannan R, Renard M, Coucke P, Malfait F, Menon S, Ravindran HK, Kurup R, Faiyaz-Ul-Haque M, Kumar K, De Paepe A. Kappanayil M, et al. Among authors: nampoothiri s. Orphanet J Rare Dis. 2012 Sep 3;7:61. doi: 10.1186/1750-1172-7-61. Orphanet J Rare Dis. 2012. PMID: 22943132 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.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A. Vuillaume ML, et al. Among authors: nampoothiri s. Hum Mutat. 2018 Jun;39(6):790-805. doi: 10.1002/humu.23428. Epub 2018 Apr 24. Hum Mutat. 2018. PMID: 29637653
202 results