Read SP - Search Results

1

Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation.

Robinson DO, Wills AJ, Hammans SR, Read SP, Sillibourne J. Robinson DO, et al. Among authors: read sp. J Med Genet. 2006 May;43(5):e23. doi: 10.1136/jmg.2005.037598. J Med Genet. 2006. PMID: 16648376 Free PMC article.

2

Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.

Robinson DO, Hammans SR, Read SP, Sillibourne J. Robinson DO, et al. Among authors: read sp. Hum Genet. 2005 Mar;116(4):267-71. doi: 10.1007/s00439-004-1235-2. Epub 2005 Jan 12. Hum Genet. 2005. PMID: 15645184

3

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK. Bakrania P, et al. Br J Ophthalmol. 2007 Nov;91(11):1471-6. doi: 10.1136/bjo.2007.117929. Epub 2007 May 23. Br J Ophthalmol. 2007. PMID: 17522144 Free PMC article.

4

Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.

Wolfe K, Strydom A, Morrogh D, Carter J, Cutajar P, Eyeoyibo M, Hassiotis A, McCarthy J, Mukherjee R, Paschos D, Perumal N, Read S, Shankar R, Sharif S, Thirulokachandran S, Thygesen JH, Patch C, Ogilvie C, Flinter F, McQuillin A, Bass N. Wolfe K, et al. Eur J Hum Genet. 2016 Jan;25(1):66-72. doi: 10.1038/ejhg.2016.107. Epub 2016 Sep 21. Eur J Hum Genet. 2016. PMID: 27650969 Free PMC article.

5

Orbital Gas after 25-Gauge Pars Plana Vitrectomy with Incorrect Gas Mixture.

Ashkenazy N, Danzig CJ, Rong AJ, Read SP, Maeng MM, Flynn HW Jr, Albini TA. Ashkenazy N, et al. Among authors: read sp. Case Rep Ophthalmol. 2023 Jul 10;14(1):301-306. doi: 10.1159/000530401. eCollection 2023 Jan-Dec. Case Rep Ophthalmol. 2023. PMID: 37485242 Free PMC article.

6

27-GAUGE PARS PLANA/PLICATA VITRECTOMY FOR PEDIATRIC VITREORETINAL SURGERY.

Ung C, Yonekawa Y, Chung MM, Berrocal AM, Kusaka S, Oshima Y, Chan RVP, Inoue M, Read SP, Kuriyan AE, Todorich B, Thanos A, Thomas BJ, Wolfe JD, Hassan TS, Capone A Jr. Ung C, et al. Among authors: read sp. Retina. 2023 Feb 1;43(2):238-242. doi: 10.1097/IAE.0000000000003662. Retina. 2023. PMID: 36695796

7

Neurofibromatosis type 1 presenting with retinal detachment and laryngeal plexiform neurofibroma in a toddler.

Hua HU, Martens R, Read SP, Cernichiaro-Espinosa LA, Fallas B, Oliver AL, Younis R, Rodriguez L, Berrocal AM. Hua HU, et al. Among authors: read sp. Am J Ophthalmol Case Rep. 2021 Jul 22;23:101170. doi: 10.1016/j.ajoc.2021.101170. eCollection 2021 Sep. Am J Ophthalmol Case Rep. 2021. PMID: 34381922 Free PMC article.

8

Fundus Pigmentation in the Diagnosis and Treatment of Retinopathy of Prematurity.

Fan KC, Read SP, Patel NA, Vanner EA, Al-Khersan H, Laura DM, Pakravan P, Negron CI, Berrocal AM. Fan KC, et al. Among authors: read sp. Ophthalmology. 2021 Aug;128(8):1242-1244. doi: 10.1016/j.ophtha.2020.12.024. Epub 2020 Dec 29. Ophthalmology. 2021. PMID: 33383092 Free PMC article.

9

Refractive Outcomes of Four-Point Scleral Fixation of Akreos AO60 Intraocular Lens Using Gore-Tex Suture.

Patel NA, Fan KC, Yannuzzi NA, Fortun JA, Haddock LJ, Yoo SH, Persad PJ, Vanner EA, Read SP, Williams BK, Sridhar J, Albini TA, Flynn HW, Donaldson K, Townsend JH. Patel NA, et al. Among authors: read sp. Clin Ophthalmol. 2020 Dec 21;14:4431-4437. doi: 10.2147/OPTH.S282094. eCollection 2020. Clin Ophthalmol. 2020. PMID: 33376297 Free PMC article.

10

A Multicenter Study of Pediatric Macular Holes: Surgical Outcomes With Microincisional Vitrectomy Surgery.

Kothari N, Read SP, Baumal CR, Capone A, Chang E, Drenser KA, Ferrone PJ, Nudleman E, Rao P, Sisk RA, Smiddy WE, Yonekawa Y, Berrocal A. Kothari N, et al. Among authors: read sp. J Vitreoretin Dis. 2019 Nov 18;4(1):22-27. doi: 10.1177/2474126419887555. eCollection 2020 Jan-Feb. J Vitreoretin Dis. 2019. PMID: 37009567 Free PMC article.

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