Sharda S - Search Results

1

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M. Rauen KA, et al. Among authors: sharda s. Am J Med Genet A. 2019 Jun;179(6):1091-1097. doi: 10.1002/ajmg.a.61125. Epub 2019 Mar 25. Am J Med Genet A. 2019. PMID: 30908877 Free PMC article.

2

A report of a patient with interstitial deletion of 15q22: further delineation of a new micro deletion syndrome.

Phadke SR, Sharda S. Phadke SR, et al. Among authors: sharda s. Am J Med Genet A. 2008 Aug 1;146A(15):1999-2000. doi: 10.1002/ajmg.a.32043. Am J Med Genet A. 2008. PMID: 18627036 No abstract available.

3

Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?

Phadke SR, Sharda S, Urquhart J, Jenkinson E, Chawala S, Trump D. Phadke SR, et al. Among authors: sharda s. Am J Med Genet A. 2011 Jan;155A(1):9-13. doi: 10.1002/ajmg.a.33663. Epub 2010 Dec 10. Am J Med Genet A. 2011. PMID: 21204205

4

Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation.

Sharda S, Phadke SR. Sharda S, et al. J Perinatol. 2007 Sep;27(9):550-5. doi: 10.1038/sj.jp.7211787. Epub 2007 Jul 5. J Perinatol. 2007. PMID: 17611609

5

Issues in counseling for Down syndrome.

Girisha KM, Sharda SV, Phadke SR. Girisha KM, et al. Indian Pediatr. 2007 Feb;44(2):131-3. Indian Pediatr. 2007. PMID: 17351304 Free article.

6

Hemihyperplasia syndromes.

Dalal AB, Phadke SR, Pradhan M, Sharda S. Dalal AB, et al. Among authors: sharda s. Indian J Pediatr. 2006 Jul;73(7):609-15. doi: 10.1007/BF02759927. Indian J Pediatr. 2006. PMID: 16877856

7

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Singh K, Bijarnia-Mahay S, Ramprasad VL, Puri RD, Nair S, Sharda S, Saxena R, Kohli S, Kulshreshtha S, Ganguli I, Gujral K, Verma IC. Singh K, et al. Among authors: sharda s. BMC Med Genet. 2020 Nov 2;21(1):216. doi: 10.1186/s12881-020-01153-4. BMC Med Genet. 2020. PMID: 33138774 Free PMC article.

8

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: sharda s. Gene. 2015 Aug 10;567(2):173-81. doi: 10.1016/j.gene.2015.04.078. Epub 2015 Apr 30. Gene. 2015. PMID: 25936995

9

Intravenous pamidronate therapy in osteogenesis imperfecta: response to treatment and factors influencing outcome.

Bajpai A, Kabra M, Gupta N, Sharda S, Ghosh M. Bajpai A, et al. Among authors: sharda s. J Pediatr Orthop. 2007 Mar;27(2):225-7. doi: 10.1097/bpo.0b013e3180316d06. J Pediatr Orthop. 2007. PMID: 17314651 Clinical Trial.

10

An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation.

Dayal D, Dekate P, Sharda S, Das A, Attri S. Dayal D, et al. Among authors: sharda s. J Pediatr Genet. 2013 Jun;2(2):109-12. doi: 10.3233/PGE-13056. J Pediatr Genet. 2013. PMID: 27625848 Free PMC article.

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