Hull S - Search Results

1

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, Stoetzel C, Schaefer E, Defoort-Dhellemmes S, Drumare I, Holder GE, Hamel CP, Webster AR, Moore AT, Puech B, Dollfus HJ. Scheidecker S, et al. Among authors: hull s. Am J Ophthalmol. 2015 Aug;160(2):364-372.e1. doi: 10.1016/j.ajo.2015.05.007. Epub 2015 May 15. Am J Ophthalmol. 2015. PMID: 25982971

2

Clinical and molecular characterization of enhanced S-cone syndrome in children.

Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A, Robson AG, Holder GE, Webster AR, Moore AT. Hull S, et al. JAMA Ophthalmol. 2014 Nov;132(11):1341-9. doi: 10.1001/jamaophthalmol.2014.2343. JAMA Ophthalmol. 2014. PMID: 25079116

3

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Hull S, Arno G, Plagnol V, Chamney S, Russell-Eggitt I, Thompson D, Ramsden SC, Black GC, Robson AG, Holder GE, Moore AT, Webster AR. Hull S, et al. Invest Ophthalmol Vis Sci. 2014 Sep 30;55(10):6934-44. doi: 10.1167/iovs.14-14715. Invest Ophthalmol Vis Sci. 2014. PMID: 25270190

4

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Hufnagel RB, et al. Among authors: hull s. J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5. J Med Genet. 2015. PMID: 25480986 Free PMC article.

5

Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy.

Hull S, Arno G, Plagnol V, Robson AG, Webster AR, Moore AT. Hull S, et al. Acta Ophthalmol. 2015 Aug;93(5):e392-e393. doi: 10.1111/aos.12592. Epub 2014 Dec 28. Acta Ophthalmol. 2015. PMID: 25546566 Free article. No abstract available.

6

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.

Arno G, Hull S, Robson AG, Holder GE, Cheetham ME, Webster AR, Plagnol V, Moore AT. Arno G, et al. Among authors: hull s. Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2358-65. doi: 10.1167/iovs.15-16520. Invest Ophthalmol Vis Sci. 2015. PMID: 25766589

7

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strähle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H. Scheidecker S, et al. Among authors: hull s. Am J Hum Genet. 2015 Apr 2;96(4):666-74. doi: 10.1016/j.ajhg.2015.02.011. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817018 Free PMC article.

8

Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti.

Hull S, Arno G, Thomson P, Mutch S, Webster AR, Rai H, Hill V, Moore AT. Hull S, et al. Am J Med Genet A. 2015 Jul;167(7):1601-4. doi: 10.1002/ajmg.a.37004. Epub 2015 May 5. Am J Med Genet A. 2015. PMID: 25944529

9

Congenital high myopia and central macular atrophy: a report of 3 families.

Hull S, Kalhoro A, Marr J, Thompson DA, Holder GE, Robson AG, Moore AT. Hull S, et al. Eye (Lond). 2015 Jul;29(7):936-42. doi: 10.1038/eye.2015.53. Epub 2015 May 22. Eye (Lond). 2015. PMID: 25998941 Free PMC article.

10

The ophthalmic presentation of Hermansky-Pudlak syndrome 6.

Hull S, Arno G, Holder GE, Plagnol V, Gomez K, Liesner R, Webster AR, Moore AT. Hull S, et al. Br J Ophthalmol. 2016 Nov;100(11):1521-1524. doi: 10.1136/bjophthalmol-2015-308067. Epub 2016 Jan 28. Br J Ophthalmol. 2016. PMID: 26823395

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