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Page 1
Recurrent and novel GLB1 mutations in India.
Bidchol AM, Dalal A, Trivedi R, Shukla A, Nampoothiri S, Sankar VH, Danda S, Gupta N, Kabra M, Hebbar SA, Bhat RY, Matta D, Ekbote AV, Puri RD, Phadke SR, Gowrishankar K, Aggarwal S, Ranganath P, Sharda S, Kamate M, Datar CA, Bhat K, Kamath N, Shah H, Krishna S, Gopinath PM, Verma IC, Nagarajaram HA, Satyamoorthy K, Girisha KM. Bidchol AM, et al. Among authors: ekbote av. Gene. 2015 Aug 10;567(2):173-81. doi: 10.1016/j.gene.2015.04.078. Epub 2015 Apr 30. Gene. 2015. PMID: 25936995
Fanconi- Bickel Syndrome: mutation in an Indian patient.
Ekbote AV, Mandal K, Agarwal I, Sinha R, Danda S. Ekbote AV, et al. Indian J Pediatr. 2012 Jun;79(6):810-2. doi: 10.1007/s12098-011-0568-9. Epub 2011 Oct 5. Indian J Pediatr. 2012. PMID: 21972075
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.
Bhavani GS, Shah H, Shukla A, Gupta N, Gowrishankar K, Rao AP, Kabra M, Agarwal M, Ranganath P, Ekbote AV, Phadke SR, Kamath A, Dalal A, Girisha KM. Bhavani GS, et al. Among authors: ekbote av. Am J Med Genet A. 2016 Feb;170A(2):410-417. doi: 10.1002/ajmg.a.37447. Epub 2015 Nov 24. Am J Med Genet A. 2016. PMID: 26601801
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia.
Singh S, Danda S, Sharma N, Shah H, Madhuri V, Mir TA, Padala NZ, Medishetti R, Ekbote A, Bhavani GS, Sevilimedu A, Girisha KM. Singh S, et al. Eur J Hum Genet. 2025 Jan;33(1):30-37. doi: 10.1038/s41431-024-01725-5. Epub 2024 Nov 6. Eur J Hum Genet. 2025. PMID: 39506047 Free PMC article.
18 results