Clayton-Smith J - Search Results

1

De novo deletion of chromosome 18q in a baby with harlequin ichthyosis.

Stewart H, Smith PT, Gaunt L, Moore L, Tarpey P, Andrew S, Dady I, Rifkin R, Clayton-Smith J. Stewart H, et al. Am J Med Genet. 2001 Sep 1;102(4):342-5. doi: 10.1002/ajmg.1506. Am J Med Genet. 2001. PMID: 11503161

2

Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.

Webb T, Clayton-Smith J, Cheng XJ, Knoll JH, Lalande M, Pembrey ME, Malcolm S. Webb T, et al. J Med Genet. 1992 Dec;29(12):921-4. doi: 10.1136/jmg.29.12.921. J Med Genet. 1992. PMID: 1362225 Free PMC article.

3

Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5).

Norman AM, Read AP, Clayton-Smith J, Andrews T, Donnai D. Norman AM, et al. Am J Med Genet. 1992 Feb 15;42(4):638-41. doi: 10.1002/ajmg.1320420441. Am J Med Genet. 1992. PMID: 1609847

4

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.

5

Molecular mechanisms in Angelman syndrome: a survey of 93 patients.

Chan CT, Clayton-Smith J, Cheng XJ, Buxton J, Webb T, Pembrey ME, Malcolm S. Chan CT, et al. J Med Genet. 1993 Nov;30(11):895-902. doi: 10.1136/jmg.30.11.895. J Med Genet. 1993. PMID: 7905534 Free PMC article.

6

Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.

Clayton-Smith J, Driscoll DJ, Waters MF, Webb T, Andrews T, Malcolm S, Pembrey ME, Nicholls RD. Clayton-Smith J, et al. Am J Med Genet. 1993 Oct 1;47(5):683-6. doi: 10.1002/ajmg.1320470519. Am J Med Genet. 1993. PMID: 8266996

7

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

Clayton-Smith J, Webb T, Cheng XJ, Pembrey ME, Malcolm S. Clayton-Smith J, et al. J Med Genet. 1993 Jun;30(6):529-31. doi: 10.1136/jmg.30.6.529. J Med Genet. 1993. PMID: 8326502 Free PMC article. Review.

8

22q11 deletion: a cause of asymmetric crying facies.

Stewart HS, Clayton-Smith J. Stewart HS, et al. Arch Dis Child. 1996 Jul;75(1):89. doi: 10.1136/adc.75.1.89-c. Arch Dis Child. 1996. PMID: 8813885 Free PMC article. No abstract available.

9

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

10

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.

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