Shankar SP - Search Results

1

Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.

Sanchez RL, Yan J, Richards S, Mierau G, Wartchow EP, Collins CD, Shankar SP. Sanchez RL, et al. Among authors: shankar sp. Am J Ophthalmol Case Rep. 2016 Aug 27;4:50-53. doi: 10.1016/j.ajoc.2016.07.005. eCollection 2016 Dec. Am J Ophthalmol Case Rep. 2016. PMID: 29503925 Free PMC article.

2

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.

Yu-Wai-Man P, Shankar SP, Biousse V, Miller NR, Bean LJ, Coffee B, Hegde M, Newman NJ. Yu-Wai-Man P, et al. Among authors: shankar sp. Ophthalmology. 2011 Mar;118(3):558-63. doi: 10.1016/j.ophtha.2010.07.029. Epub 2010 Oct 30. Ophthalmology. 2011. PMID: 21036400 Free PMC article.

3

MULTIMODAL IMAGING OF A FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE 7 DEMONSTRATING PHENOTYPIC VARIATION AND PROGRESSION OF RETINAL DEGENERATION.

Levinson JD, Yan J, Lambert SR, Shankar SP. Levinson JD, et al. Among authors: shankar sp. Retin Cases Brief Rep. 2016 Summer;10(3):267-72. doi: 10.1097/ICB.0000000000000248. Retin Cases Brief Rep. 2016. PMID: 26584329 Free PMC article.

4

Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8.

Salpeter EM, Leonard BC, Lopez AJ, Murphy CJ, Thomasy S, Imai DM, Grimsrud K, Lloyd KCK, Yan J, Sanchez Russo R, Shankar SP, Moshiri A. Salpeter EM, et al. Among authors: shankar sp. Ann Transl Med. 2021 Aug;9(15):1274. doi: 10.21037/atm-20-4739. Ann Transl Med. 2021. PMID: 34532411 Free PMC article.

5

Retinal dystrophies: A look beyond the eyes.

Tang VD, Egense A, Yiu G, Meyers E, Moshiri A, Shankar SP. Tang VD, et al. Among authors: shankar sp. Am J Ophthalmol Case Rep. 2022 Jun 11;27:101613. doi: 10.1016/j.ajoc.2022.101613. eCollection 2022 Sep. Am J Ophthalmol Case Rep. 2022. PMID: 35756836 Free PMC article.

6

Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.

Ankala A, Jain N, Hubbard B, Alexander JJ, Shankar SP. Ankala A, et al. Among authors: shankar sp. Am J Med Genet A. 2018 Aug;176(8):1778-1783. doi: 10.1002/ajmg.a.38855. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055036

7

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

Peragallo JH, Keller S, van der Knaap MS, Soares BP, Shankar SP. Peragallo JH, et al. Among authors: shankar sp. Ophthalmic Genet. 2018 Jan-Feb;39(1):99-102. doi: 10.1080/13816810.2017.1350723. Epub 2017 Aug 18. Ophthalmic Genet. 2018. PMID: 28820624 Free PMC article.

8

Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome.

Xue Y, Shankar S, Cornell K, Dai Z, Wang CE, Rudd MK, Coffee B. Xue Y, et al. Am J Med Genet A. 2015 Dec;167A(12):3229-33. doi: 10.1002/ajmg.a.37371. Epub 2015 Sep 11. Am J Med Genet A. 2015. PMID: 26358311 No abstract available.

9

An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy.

Goker-Alpan O, Longo N, McDonald M, Shankar SP, Schiffmann R, Chang P, Shen Y, Pano A. Goker-Alpan O, et al. Among authors: shankar sp. Drug Des Devel Ther. 2016 May 25;10:1771-81. doi: 10.2147/DDDT.S102761. eCollection 2016. Drug Des Devel Ther. 2016. PMID: 27307708 Free PMC article. Clinical Trial.

10

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.

Wigby K, Hammer M, Tokita M, Patel P, Jones MC, Larson A, Bartolomei FV, Dykzeul N, Slavotinek A, Yip T, Bandres-Ciga S, Simpson BN, Suhrie K, Shankar S, Veith R, Bragg J, Powell C, Kingsmore SF, Dimmock D, Maron J, Davis J, Del Campo M. Wigby K, et al. Am J Med Genet A. 2023 Apr;191(4):930-940. doi: 10.1002/ajmg.a.63097. Epub 2023 Jan 18. Am J Med Genet A. 2023. PMID: 36651673

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