Clayton-Smith J - Search Results

1

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.

Beygo J, Buiting K, Ramsden SC, Ellis R, Clayton-Smith J, Kanber D. Beygo J, et al. Eur J Hum Genet. 2019 Sep;27(9):1326-1340. doi: 10.1038/s41431-019-0435-0. Epub 2019 Jun 24. Eur J Hum Genet. 2019. PMID: 31235867 Free PMC article.

2

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.

3

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

4

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

5

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.

6

Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.

Boyes L, Wallace AJ, Krajewska-Walasek M, Chrzanowska KH, Clayton-Smith J, Ramsden S. Boyes L, et al. Eur J Med Genet. 2006 Nov-Dec;49(6):472-80. doi: 10.1016/j.ejmg.2006.04.004. Epub 2006 May 19. Eur J Med Genet. 2006. PMID: 16740422

7

Guidelines for molecular karyotyping in constitutional genetic diagnosis.

Vermeesch JR, Fiegler H, de Leeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, Van Ravenswaaij C, Sanlaville D, Patsalis PC, Firth H, Devriendt K, Zuffardi O. Vermeesch JR, et al. Eur J Hum Genet. 2007 Nov;15(11):1105-14. doi: 10.1038/sj.ejhg.5201896. Epub 2007 Jul 18. Eur J Hum Genet. 2007. PMID: 17637806 Review.

8

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Gillespie RL, O'Sullivan J, Ashworth J, Bhaskar S, Williams S, Biswas S, Kehdi E, Ramsden SC, Clayton-Smith J, Black GC, Lloyd IC. Gillespie RL, et al. Ophthalmology. 2014 Nov;121(11):2124-37.e1-2. doi: 10.1016/j.ophtha.2014.06.006. Epub 2014 Aug 19. Ophthalmology. 2014. PMID: 25148791

9

Further delineation of the KAT6B molecular and phenotypic spectrum.

Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study; Smith J, Clayton-Smith J. Gannon T, et al. Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424711 Free PMC article.

10

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.

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