Clayton-Smith J - Search Results

1

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC; UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project. Taylor RL, et al. JAMA Ophthalmol. 2017 Apr 1;135(4):339-347. doi: 10.1001/jamaophthalmol.2017.0046. JAMA Ophthalmol. 2017. PMID: 28253385 Free article.

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

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.

Clayton-Smith J, Watson P, Ramsden S, Black GC. Clayton-Smith J, et al. Lancet. 2000 Sep 2;356(9232):830-2. doi: 10.1016/s0140-6736(00)02661-1. Lancet. 2000. PMID: 11022934

6

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.

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

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

10

A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.

Cilliers DD, Parveen R, Clayton P, Cairns SA, Clarke S, Shalet SM, Black GC, Newman WG, Clayton-Smith J. Cilliers DD, et al. Eur J Med Genet. 2007 May-Jun;50(3):216-23. doi: 10.1016/j.ejmg.2007.01.003. Epub 2007 Jan 27. Eur J Med Genet. 2007. PMID: 17369115

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