Clayton-Smith J - Search Results

1

Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.

Le Fevre A, Beygo J, Silveira C, Kamien B, Clayton-Smith J, Colley A, Buiting K, Dudding-Byth T. Le Fevre A, et al. Am J Med Genet A. 2017 Mar;173(3):753-757. doi: 10.1002/ajmg.a.38072. Am J Med Genet A. 2017. PMID: 28211971 Review.

2

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome.

Clayton-Smith J, Webb T, Robb SA, Dijkstra I, Willems P, Lam S, Cheng XJ, Pembrey ME, Malcolm S. Clayton-Smith J, et al. Am J Med Genet. 1992 Sep 15;44(2):256-60. doi: 10.1002/ajmg.1320440236. Am J Med Genet. 1992. PMID: 1360768

3

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.

4

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

5

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

6

Angelman syndrome.

Clayton-Smith J, Pembrey ME. Clayton-Smith J, et al. J Med Genet. 1992 Jun;29(6):412-5. doi: 10.1136/jmg.29.6.412. J Med Genet. 1992. PMID: 1619637 Free PMC article. No abstract available.

7

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.

Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, et al. Williams CA, et al. Am J Med Genet. 1995 Mar 27;56(2):237-8. doi: 10.1002/ajmg.1320560224. Am J Med Genet. 1995. PMID: 7625452 No abstract available.

8

Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals.

Clayton-Smith J. Clayton-Smith J. Am J Med Genet. 1993 Apr 1;46(1):12-5. doi: 10.1002/ajmg.1320460105. Am J Med Genet. 1993. PMID: 7684188

9

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.

10

Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb.

Buxton JL, Chan CT, Gilbert H, Clayton-Smith J, Burn J, Pembrey M, Malcolm S. Buxton JL, et al. Hum Mol Genet. 1994 Aug;3(8):1409-13. doi: 10.1093/hmg/3.8.1409. Hum Mol Genet. 1994. PMID: 7987324

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