Ganapathy A - Search Results

1

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

Ganapathy A, Pandey N, Srisailapathy CR, Jalvi R, Malhotra V, Venkatappa M, Chatterjee A, Sharma M, Santhanam R, Chadha S, Ramesh A, Agarwal AK, Rangasayee RR, Anand A. Ganapathy A, et al. PLoS One. 2014 Jan 8;9(1):e84773. doi: 10.1371/journal.pone.0084773. eCollection 2014. PLoS One. 2014. PMID: 24416283 Free PMC article.

2

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.

Mani RS, Ganapathy A, Jalvi R, Srikumari Srisailapathy CR, Malhotra V, Chadha S, Agarwal A, Ramesh A, Rangasayee RR, Anand A. Mani RS, et al. Among authors: ganapathy a. Eur J Hum Genet. 2009 Apr;17(4):502-9. doi: 10.1038/ejhg.2008.179. Epub 2008 Oct 22. Eur J Hum Genet. 2009. PMID: 18941476 Free PMC article.

3

Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.

Bhattacharya S, Khadilkar SV, Nalini A, Ganapathy A, Mannan AU, Majumder PP, Bhattacharya A. Bhattacharya S, et al. Among authors: ganapathy a. J Neuromuscul Dis. 2018;5(1):85-92. doi: 10.3233/JND-170270. J Neuromuscul Dis. 2018. PMID: 29480215

4

Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss.

Sudha D, Patric IRP, Ganapathy A, Agarwal S, Krishna S, Neriyanuri S, Sripriya S, Sen P, Chidambaram S, Arunachalam JP. Sudha D, et al. Among authors: ganapathy a. Ophthalmic Genet. 2017 May-Jun;38(3):260-266. doi: 10.1080/13816810.2016.1214972. Epub 2016 Sep 22. Ophthalmic Genet. 2017. PMID: 28574807

5

Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.

Ganapathy A, Mishra A, Soni MR, Kumar P, Sadagopan M, Kanthi AV, Patric IRP, George S, Sridharan A, Thyagarajan TC, Aswathy SL, Vidya HK, Chinnappa SM, Nayanala S, Prakash MB, Raghavendrachar VG, Parulekar M, Gowda VK, Nampoothiri S, Menon RN, Pachat D, Udani V, Naik N, Kamate M, Devi ARR, Mohammed Kunju PA, Nair M, Hegde AU, Kumar MP, Sundaram S, Tilak P, Puri RD, Shah K, Sheth J, Hasan Q, Sheth F, Agrawal P, Katragadda S, Veeramachaneni V, Chandru V, Hariharan R, Mannan AU. Ganapathy A, et al. J Neurol. 2019 Aug;266(8):1919-1926. doi: 10.1007/s00415-019-09358-1. Epub 2019 May 8. J Neurol. 2019. PMID: 31069529

6

Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2.

Bhattad S, Dinakar C, Pinnamaraju H, Ganapathy A, Mannan A. Bhattad S, et al. Among authors: ganapathy a. J Clin Immunol. 2019 Aug;39(6):596-599. doi: 10.1007/s10875-019-00664-x. Epub 2019 Jul 10. J Clin Immunol. 2019. PMID: 31292894

7

Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.

Yesodharan D, Krishnan V, Nair IR, Ganapathy A, Mannan AU, Nampoothiri S. Yesodharan D, et al. Among authors: ganapathy a. Am J Med Genet A. 2021 Feb;185(2):620-624. doi: 10.1002/ajmg.a.61971. Epub 2020 Nov 11. Am J Med Genet A. 2021. PMID: 33179409

8

1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum.

Radha Rama Devi A, Ganapathy A, Mannan AU, Sabharanjak S, Naushad SM. Radha Rama Devi A, et al. Among authors: ganapathy a. Mol Syndromol. 2019 May;10(3):161-166. doi: 10.1159/000496079. Epub 2019 Jan 16. Mol Syndromol. 2019. PMID: 31191205 Free PMC article.

9

Lipoprotein Lipase Deficiency.

Kuthiroly S, Yesodharan D, Radhakrishnan N, Ganapathy A, Mannan AU, Hoffmann MM, Nampoothiri S. Kuthiroly S, et al. Among authors: ganapathy a. 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

10

Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families.

Chandrasekharan SV, Nair SS, Ganapathy A, Mannan AU, Sundaram S. Chandrasekharan SV, et al. Among authors: ganapathy a. Neurol Sci. 2022 Jan;43(1):719-722. doi: 10.1007/s10072-021-05668-3. Epub 2021 Oct 20. Neurol Sci. 2022. PMID: 34668123 No abstract available.

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