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A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
Bashyam MD, Chaudhary AK, Reddy EC, Reddy V, Acharya V, Nagarajaram HA, Devi AR, Bashyam L, Dalal AB, Gupta N, Kabra M, Agarwal M, Phadke SR, Tainwala R, Kumar R, Hariharan SV. Bashyam MD, et al. Among authors: agarwal m. Br J Dermatol. 2012 Apr;166(4):819-29. doi: 10.1111/j.1365-2133.2011.10707.x. Epub 2012 Mar 5. Br J Dermatol. 2012. PMID: 22032522
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: agarwal m. 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
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM. Bidchol AM, et al. Among authors: agarwal m. Am J Med Genet A. 2014 Nov;164A(11):2793-801. doi: 10.1002/ajmg.a.36735. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25252036
Prenatal diagnosis in India is not limited to sex selection.
Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, Sankar VH, Gupta N, Patil SJ, Mandal K, Tamhankar P, Aggarwal S, Agarwal M. Dalal AB, et al. Among authors: agarwal m. Genet Med. 2015 Jan;17(1):88. doi: 10.1038/gim.2014.149. Genet Med. 2015. PMID: 25356971 Free article. No abstract available.
2,240 results