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Page 1
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
Kaur N, do Rosario MC, Majethia P, Mascarenhas S, Rao LP, Nair KV, Hunakunti B, Prasannakumar AP, Naik R, Narayanan DL, Nayak SS, Bhat V, Sharma S, Ramesh Bhat Y, Yatheesha BL, Kulkarni R, Patil SJ, Nampoothiri S, Siddiqui S, Girisha KM, Bielas S, Shukla A. Kaur N, et al. Among authors: nair kv. Am J Med Genet A. 2024 Oct 29:e63914. doi: 10.1002/ajmg.a.63914. Online ahead of print. Am J Med Genet A. 2024. PMID: 39470296
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P, Kaur N, Mascarenhas S, Rao LP, Pande S, Narayanan DL, Bhat V, Nayak SS, Nair KV, Prasannakumar AP, Chaurasia A, Hunakunti B, Jadhav N, Farooqui S, Yeole M, Kothiwale V, Naik R, Bhat V, Aroor S, Lewis L, Purkayastha J, Bhat YR, Praveen BK, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Siddiqui S, Bielas S, Girisha KM, Sharma S, Shukla A. Majethia P, et al. Among authors: nair kv. Clin Genet. 2024 Jun;105(6):639-654. doi: 10.1111/cge.14495. Epub 2024 Feb 19. Clin Genet. 2024. PMID: 38374498 Free PMC article.
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.
Kaur P, do Rosario MC, Hebbar M, Sharma S, Kausthubham N, Nair K, A S, Bhat Y R, Lewis LES, Nampoothiri S, Patil SJ, Suresh N, Bijarnia Mahay S, Dua Puri R, Pai S, Kaur A, Kc R, Kamath N, Bajaj S, Kumble A, Shetty R, Shenoy R, Kamate M, Shah H, Muranjan MN, Bl Y, Avabratha KS, Subramaniam G, Kadavigere R, Bielas S, Girisha KM, Shukla A. Kaur P, et al. Clin Genet. 2021 Nov;100(5):542-550. doi: 10.1111/cge.14037. Epub 2021 Jul 30. Clin Genet. 2021. PMID: 34302356 Free PMC article.
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. Pande S, et al. Eur J Hum Genet. 2024 Oct;32(10):1291-1298. doi: 10.1038/s41431-023-01513-7. Epub 2023 Dec 20. Eur J Hum Genet. 2024. PMID: 38114583 Free PMC article.
c.202_204del in NUP214 causes late onset form of febrile encephalopathy.
Farooqui S, Narayanan DL, Mascarenhas S, do Rosario MC, Nair KV, Periyasamy R, Shukla A. Farooqui S, et al. Among authors: nair kv. Am J Med Genet A. 2024 May;194(5):e63529. doi: 10.1002/ajmg.a.63529. Epub 2024 Jan 5. Am J Med Genet A. 2024. PMID: 38179855
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.
Mascarenhas S, Yeole M, Rao LP, do Rosario MC, Majethia P, Nair KV, Sharma S, Barala PK, Puri RD, Pal S, Siddiqui S, Shukla A. Mascarenhas S, et al. Among authors: nair kv. Clin Dysmorphol. 2024 Oct 1;33(4):160-166. doi: 10.1097/MCD.0000000000000490. Epub 2024 Jul 16. Clin Dysmorphol. 2024. PMID: 39140381 Review.
148 results