Clayton-Smith J - Search Results

1

Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

Redwood A, Douzgou S, Waller S, Ramsden S, Roberts A, Bonin H, Lloyd IC, Ashworth J, Black GCM, Clayton-Smith J. Redwood A, et al. Eur J Med Genet. 2020 Feb;63(2):103658. doi: 10.1016/j.ejmg.2019.04.015. Epub 2019 Apr 30. Eur J Med Genet. 2020. PMID: 31048080

2

Monozygotic twinning and Wiedemann-Beckwith syndrome.

Clayton-Smith J, Read AP, Donnai D. Clayton-Smith J, et al. Am J Med Genet. 1992 Feb 15;42(4):633-7. doi: 10.1002/ajmg.1320420440. Am J Med Genet. 1992. PMID: 1609846

3

A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.

Clayton-Smith J, Donnai D. Clayton-Smith J, et al. J Med Genet. 1989 May;26(5):339-42. doi: 10.1136/jmg.26.5.339. J Med Genet. 1989. PMID: 2732996 Free PMC article.

4

Fetal valproate syndrome.

Clayton-Smith J, Donnai D. Clayton-Smith J, et al. J Med Genet. 1995 Sep;32(9):724-7. doi: 10.1136/jmg.32.9.724. J Med Genet. 1995. PMID: 8544193 Free PMC article. No abstract available.

5

A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation.

Ramsden S, Gaunt L, Seres-Santamaria A, Clayton-Smith J. Ramsden S, et al. Acta Genet Med Gemellol (Roma). 1996;45(1-2):255-61. doi: 10.1017/s0001566000001410. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872042

6

Familial patent ductus arteriosus: a further case of CHAR syndrome.

Slavotinek A, Clayton-Smith J, Super M. Slavotinek A, et al. Am J Med Genet. 1997 Aug 8;71(2):229-32. Am J Med Genet. 1997. PMID: 9217229

7

Anterior segment dysgenesis in mosaic Turner syndrome.

Lloyd IC, Haigh PM, Clayton-Smith J, Clayton P, Price DA, Ridgway AE, Donnai D. Lloyd IC, et al. Br J Ophthalmol. 1997 Aug;81(8):639-43. doi: 10.1136/bjo.81.8.639. Br J Ophthalmol. 1997. PMID: 9349149 Free PMC article.

8

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.

9

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.

Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. Slavotinek A, et al. J Med Genet. 1999 May;36(5):405-11. J Med Genet. 1999. PMID: 10353788 Free PMC article.

10

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

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