Shankar S - Search Results

1

Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature.

Hebson C, Coleman K, Clabby M, Sallee D, Shankar S, Loeys B, Van Laer L, Kogon B. Hebson C, et al. Among authors: shankar s. Eur J Pediatr. 2014 May;173(5):671-5. doi: 10.1007/s00431-013-2217-y. Epub 2013 Nov 26. Eur J Pediatr. 2014. PMID: 24276535 Review.

2

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA. Pierpont ME, et al. Among authors: shankar s. Pediatrics. 2014 Oct;134(4):e1149-62. doi: 10.1542/peds.2013-3189. Epub 2014 Sep 1. Pediatrics. 2014. PMID: 25180280 Free PMC article. Review.

3

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. 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.

4

Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.

Kovac V, Shapiro EG, Rudser KD, Mueller BA, Eisengart JB, Delaney KA, Ahmed A, King KE, Yund BD, Cowan MJ, Raiman J, Mamak EG, Harmatz PR, Shankar SP, Ali N, Cagle SR, Wozniak JR, Lim KO, Orchard PJ, Whitley CB, Nestrasil I. Kovac V, et al. Mol Genet Metab. 2022 Feb;135(2):122-132. doi: 10.1016/j.ymgme.2022.01.001. Epub 2022 Jan 7. Mol Genet Metab. 2022. PMID: 35012890 Free PMC article.

5

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. 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.

6

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.

7

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. Among authors: shankar s. 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.

8

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. 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

9

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.

10

Fabry disease in infancy and early childhood: a systematic literature review.

Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Laney DA, et al. Among authors: shankar sp. Genet Med. 2015 May;17(5):323-30. doi: 10.1038/gim.2014.120. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232851 Free article. Review.

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