Clayton-Smith J - Search Results

1

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

2

Examination of fetuses after induced abortion for fetal abnormality.

Clayton-Smith J, Farndon PA, McKeown C, Donnai D. Clayton-Smith J, et al. BMJ. 1990 Feb 3;300(6720):295-7. doi: 10.1136/bmj.300.6720.295. BMJ. 1990. PMID: 2106958 Free PMC article.

3

Testing for cystic fibrosis using allelic association.

Ivinson AJ, Read AP, Harris R, Super M, Schwarz M, Clayton Smith J, Elles R. Ivinson AJ, et al. J Med Genet. 1989 Jul;26(7):426-30. doi: 10.1136/jmg.26.7.426. J Med Genet. 1989. PMID: 2746614 Free PMC article.

4

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

5

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.

6

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Scambler PJ, et al. Ryan AK, et al. J Med Genet. 1997 Oct;34(10):798-804. doi: 10.1136/jmg.34.10.798. J Med Genet. 1997. PMID: 9350810 Free PMC article.

7

Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome.

Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RC, Mueller RF, Brueton L, Super M, Steen-Johnsen J, Donnai D. Clayton-Smith J, et al. Clin Dysmorphol. 1997 Oct;6(4):291-302. doi: 10.1097/00019605-199710000-00001. Clin Dysmorphol. 1997. PMID: 9354837

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

Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus.

Slavotinek A, Clayton-Smith J, Kerr B. Slavotinek A, et al. Clin Dysmorphol. 1999 Jul;8(3):223-5. Clin Dysmorphol. 1999. PMID: 10457860

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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