Clayton-Smith J - Search Results

1

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience.

Molina-Ramírez LP, Burkitt-Wright EM, Saeed H, McDermott JH, Kyle C, Wright R, Campbell C, Bhaskar SS, Taylor A, Dutton L, Forde C, Metcalfe K, Smith A, Clayton-Smith J, Douzgou S, Chandler K, Briggs TA, Banka S, Newman WG, Gokhale D, Bruce IA, Black GC. Molina-Ramírez LP, et al. Clin Otolaryngol. 2021 Nov;46(6):1257-1262. doi: 10.1111/coa.13826. Epub 2021 Jul 5. Clin Otolaryngol. 2021. PMID: 34171171 No abstract available.

2

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

Black GC, Perveen R, Hatchwell E, Reck A, Clayton-Smith J. Black GC, et al. J Med Genet. 1998 Dec;35(12):985-8. doi: 10.1136/jmg.35.12.985. J Med Genet. 1998. PMID: 9863593 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. Hum Mol Genet. 1999 Oct;8(11):2031-5. doi: 10.1093/hmg/8.11.2031. Hum Mol Genet. 1999. PMID: 10484772

4

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

Perveen R, Lloyd IC, Clayton-Smith J, Churchill A, van Heyningen V, Hanson I, Taylor D, McKeown C, Super M, Kerr B, Winter R, Black GC. Perveen R, et al. Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2456-60. Invest Ophthalmol Vis Sci. 2000. PMID: 10937553

5

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J. Watson P, et al. J Med Genet. 2001 Apr;38(4):224-8. doi: 10.1136/jmg.38.4.224. J Med Genet. 2001. PMID: 11283202 Free PMC article.

6

Does a Jewish type of Cohen syndrome truly exist?

Chandler KE, Clayton-Smith J. Chandler KE, et al. Am J Med Genet. 2002 Sep 1;111(4):453-4. doi: 10.1002/ajmg.10611. Am J Med Genet. 2002. PMID: 12210312 No abstract available.

7

The ophthalmic findings in Cohen syndrome.

Chandler KE, Biswas S, Lloyd IC, Parry N, Clayton-Smith J, Black GC. Chandler KE, et al. 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.

8

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.

Chandler KE, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki AE, Black GC, Clayton-Smith J. Chandler KE, et al. J Med Genet. 2003 Apr;40(4):233-41. doi: 10.1136/jmg.40.4.233. J Med Genet. 2003. PMID: 12676892 Free PMC article.

9

Neuropsychological assessment of a group of UK patients with Cohen syndrome.

Chandler KE, Moffett M, Clayton-Smith J, Baker GA. Chandler KE, et al. Neuropediatrics. 2003 Feb;34(1):7-13. doi: 10.1055/s-2003-38617. Neuropediatrics. 2003. PMID: 12690562

10

Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis.

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

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