Ramadevi AR - Search Results

1

Novel and recurrent mutations in WISP3 and an atypical phenotype.

Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, Girisha KM. Bhavani GS, et al. Among authors: ramadevi ar. Am J Med Genet A. 2015 Oct;167A(10):2481-4. doi: 10.1002/ajmg.a.37164. Epub 2015 May 18. Am J Med Genet A. 2015. PMID: 25988854 No abstract available.

2

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Kabra M, Puri RD, Danda S, Gupta N, Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A. Ranganath P, et al. Among authors: ramadevi ar. Am J Med Genet A. 2016 Oct;170(10):2719-30. doi: 10.1002/ajmg.a.37817. Epub 2016 Jun 24. Am J Med Genet A. 2016. PMID: 27338287

3

De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation.

Ramadevi AR, Naik U, Dutta U, Srikanth, Prabhakara K. Ramadevi AR, et al. Am J Med Genet. 2002 Nov 22;113(2):190-2. doi: 10.1002/ajmg.10739. Am J Med Genet. 2002. PMID: 12407711

4

Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.

RamaDevi AR, Reddy EC, Ranjan S, Bashyam MD. RamaDevi AR, et al. Br J Dermatol. 2008 Jan;158(1):163-7. doi: 10.1111/j.1365-2133.2007.08231.x. Epub 2007 Oct 26. Br J Dermatol. 2008. PMID: 17970812 No abstract available.

5

Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18.

Prabhakara K, Wyandt HE, Huang XL, Prasad KS, Ramadevi AR. Prabhakara K, et al. Among authors: ramadevi ar. Ann Genet. 2004 Jul-Sep;47(3):297-303. doi: 10.1016/j.anngen.2004.03.007. Ann Genet. 2004. PMID: 15337476

6

Familial (11;21)(p13;q22)pat balanced reciprocal translocation in a female child with regression of milestones.

Ramadevi AR, Prabhakara K, Dutta U. Ramadevi AR, et al. Ann Genet. 2002 Jan-Mar;45(1):13-5. doi: 10.1016/s0003-3995(02)01099-7. Ann Genet. 2002. PMID: 11934384

7

Partial 15q22 trisomy due to segregation of maternal 10;15 reciprocal translocation.

Prabhakara K, Dutta U, Ramadevi AR. Prabhakara K, et al. Among authors: ramadevi ar. Indian Pediatr. 2002 Nov;39(11):1050-4. Indian Pediatr. 2002. PMID: 12466578 No abstract available.

8

Familial (9;11)(p22;p15.5)pat translocation and XX sex reversal in a phenotypic boy with cryptorchidism and delayed development.

Prabhakara K, Angalena R, Ramadevi AR. Prabhakara K, et al. Among authors: ramadevi ar. Genet Couns. 2004;15(1):37-41. Genet Couns. 2004. PMID: 15083697

9

In silico analysis of the structural and functional implications of SLC19A1 R27H polymorphism.

Naushad SM, Rama Devi AR, Hussain T, Alrokayan SA, Janaki Ramaiah M, Kutala VK. Naushad SM, et al. J Genet. 2019 Sep;98:85. J Genet. 2019. PMID: 31544789 Free article.

10

Newborn screening in India.

Rama Devi AR, Naushad SM. Rama Devi AR, et al. Indian J Pediatr. 2004 Feb;71(2):157-60. doi: 10.1007/BF02723099. Indian J Pediatr. 2004. PMID: 15053381

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