Nampoothiri S - Search Results

1

Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.

Vikkath N, Valiyaveedan S, Nampoothiri S, Radhakrishnan N, Pillai GS, Nair V, Pooleri GK, Mathew G, Menon KN, Ariyannur PS, Pillai AB. Vikkath N, et al. Among authors: nampoothiri s. Fam Cancer. 2015 Dec;14(4):585-94. doi: 10.1007/s10689-015-9806-z. Fam Cancer. 2015. PMID: 25952756

2

Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report.

Ahamed A, Unnikrishnan AG, Pendsey SS, Nampoothiri S, Bhavani N, Praveen VP, Kumar H, Jayakumar RV, Nair V, Ellard S, Edghill EL. Ahamed A, et al. Among authors: nampoothiri s. JOP. 2008 Nov 3;9(6):715-8. JOP. 2008. PMID: 18981553

3

Lipoprotein lipase deficiency in an infant.

Nampoothiri S, Radhakrishnan N, Schwentek A, Hoffmann MM. Nampoothiri S, et al. Indian Pediatr. 2011 Oct;48(10):805-6. Indian Pediatr. 2011. PMID: 22080683

4

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. Clin Dysmorphol. 2019 Jan;28(1):7-16. doi: 10.1097/MCD.0000000000000249. Clin Dysmorphol. 2019. PMID: 30507725

5

Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.

Stephen J, Nampoothiri S, Kuppa S, Yesodharan D, Radhakrishnan N, Gahl WA, Malicdan MCV. Stephen J, et al. Among authors: nampoothiri s. Am J Med Genet A. 2018 Dec;176(12):2930-2933. doi: 10.1002/ajmg.a.40658. Epub 2018 Dec 4. Am J Med Genet A. 2018. PMID: 30513139 Review. No abstract available.

6

Lipoprotein Lipase Deficiency.

Kuthiroly S, Yesodharan D, Radhakrishnan N, Ganapathy A, Mannan AU, Hoffmann MM, Nampoothiri S. Kuthiroly S, et al. Among authors: nampoothiri s. Indian J Pediatr. 2021 Feb;88(2):147-153. doi: 10.1007/s12098-020-03305-z. Epub 2020 May 30. Indian J Pediatr. 2021. PMID: 32472350

7

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

8

Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

Hebbar M, Shukla A, Nampoothiri S, Bielas S, Girisha KM. Hebbar M, et al. Among authors: nampoothiri s. J Hum Genet. 2019 Jan;64(1):17-21. doi: 10.1038/s10038-018-0523-y. Epub 2018 Oct 18. J Hum Genet. 2019. PMID: 30337681 Free PMC article.

9

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.

Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S. Athota JP, et al. Among authors: nampoothiri s. BMC Med Genet. 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. BMC Med Genet. 2020. PMID: 32164556 Free PMC article.

10

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.

Harms FL, Parthasarathy P, Zorndt D, Alawi M, Fuchs S, Halliday BJ, McKeown C, Sampaio H, Radhakrishnan N, Radhakrishnan SK, Gorce M, Navet B, Ziegler A, Sachdev R, Robertson SP, Nampoothiri S, Kutsche K. Harms FL, et al. Among authors: nampoothiri s. Hum Mutat. 2020 Sep;41(9):1645-1661. doi: 10.1002/humu.24071. Epub 2020 Jul 15. Hum Mutat. 2020. PMID: 32623794

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