Lloyd IC - Search Results

1

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.

Ellingford JM, Sergouniotis PI, Lennon R, Bhaskar S, Williams SG, Hillman KA, O'Sullivan J, Hall G, Ramsden SC, Lloyd IC, Woolf AS, Black GC. Ellingford JM, et al. Among authors: lloyd ic. Lancet. 2015 May 9;385(9980):1916. doi: 10.1016/S0140-6736(15)60496-2. Lancet. 2015. PMID: 25987160 Free PMC article. No abstract available.

2

A mutation in the RIEG1 gene associated with Peters' anomaly.

Doward W, Perveen R, Lloyd IC, Ridgway AE, Wilson L, Black GC. Doward W, et al. Among authors: lloyd ic. J Med Genet. 1999 Feb;36(2):152-5. J Med Genet. 1999. PMID: 10051017 Free PMC article.

3

Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.

Black GC, Perveen R, Bonshek R, Cahill M, Clayton-Smith J, Lloyd IC, McLeod D. Black GC, et al. Among authors: lloyd ic. Hum Mol Genet. 1999 Oct;8(11):2031-5. doi: 10.1093/hmg/8.11.2031. Hum Mol Genet. 1999. PMID: 10484772

4

The ophthalmic findings in Cohen syndrome.

Chandler KE, Biswas S, Lloyd IC, Parry N, Clayton-Smith J, Black GC. Chandler KE, et al. Among authors: lloyd ic. Br J Ophthalmol. 2002 Dec;86(12):1395-8. doi: 10.1136/bjo.86.12.1395. Br J Ophthalmol. 2002. PMID: 12446373 Free PMC article.

5

Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis.

Quinn SM, Black GC, Biswas S, Clayton-Smith J, Lloyd IC. Quinn SM, et al. Among authors: lloyd ic. Ophthalmic Genet. 2004 Dec;25(4):277-83. doi: 10.1080/13816810490902684. Ophthalmic Genet. 2004. PMID: 15621880

6

Flecked retina associated with ring 17 chromosome.

Kumari R, Black G, Dore J, Lloyd IC. Kumari R, et al. Among authors: lloyd ic. Eye (Lond). 2009 Nov;23(11):2134-5. doi: 10.1038/eye.2008.392. Epub 2009 Feb 6. Eye (Lond). 2009. PMID: 19197320 No abstract available.

7

De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability.

Banka S, Lloyd IC, Black G, Trueman S, Gibbs J, Clayton-Smith J. Banka S, et al. Among authors: lloyd ic. Clin Dysmorphol. 2010 Apr;19(2):73-75. doi: 10.1097/MCD.0b013e328331a6d7. Clin Dysmorphol. 2010. PMID: 20177379 No abstract available.

8

VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype.

Burkitt Wright EM, Perveen R, Bowers N, Ramsden S, McCann E, O'Driscoll M, Lloyd IC, Clayton-Smith J, Black GC. Burkitt Wright EM, et al. Among authors: lloyd ic. Br J Ophthalmol. 2010 Mar;94(3):386-8. doi: 10.1136/bjo.2009.159996. Br J Ophthalmol. 2010. PMID: 20215382 No abstract available.

9

The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens.

Gillespie RL, Lloyd IC, Black GC. Gillespie RL, et al. Among authors: lloyd ic. Hum Hered. 2014;77(1-4):118-37. doi: 10.1159/000362599. Epub 2014 Jul 29. Hum Hered. 2014. PMID: 25060275

10

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Gillespie RL, O'Sullivan J, Ashworth J, Bhaskar S, Williams S, Biswas S, Kehdi E, Ramsden SC, Clayton-Smith J, Black GC, Lloyd IC. Gillespie RL, et al. Among authors: lloyd ic. Ophthalmology. 2014 Nov;121(11):2124-37.e1-2. doi: 10.1016/j.ophtha.2014.06.006. Epub 2014 Aug 19. Ophthalmology. 2014. PMID: 25148791

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