Ramsden SC - Search Results

1

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.

Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M; Genomics England Research Consortium; Boltshauser E, Sayer JA. Powell L, et al. Among authors: ramsden sc. Brain Commun. 2021 Jul 16;3(3):fcab163. doi: 10.1093/braincomms/fcab163. eCollection 2021. Brain Commun. 2021. PMID: 34423300 Free PMC article.

2

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

3

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.

4

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

5

Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero.

Kini U, Lee R, Jones A, Smith S, Ramsden S, Fryer A, Clayton-Smith J; Liverpool Manchester Neurodevelopmental Study Group. Kini U, et al. Eur J Med Genet. 2007 Nov-Dec;50(6):411-20. doi: 10.1016/j.ejmg.2007.08.002. Epub 2007 Sep 11. Eur J Med Genet. 2007. PMID: 17951123

6

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.

Ramsden SC, Clayton-Smith J, Birch R, Buiting K. Ramsden SC, et al. BMC Med Genet. 2010 May 11;11:70. doi: 10.1186/1471-2350-11-70. BMC Med Genet. 2010. PMID: 20459762 Free PMC article.

7

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. Among authors: ramsden sc. 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

8

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

9

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. Among authors: ramsden sc. 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.

10

Clinical and genetic variability in children with partial albinism.

Campbell P, Ellingford JM, Parry NRA, Fletcher T, Ramsden SC, Gale T, Hall G, Smith K, Kasperaviciute D, Thomas E, Lloyd IC, Douzgou S, Clayton-Smith J, Biswas S, Ashworth JL, Black GCM, Sergouniotis PI. Campbell P, et al. Among authors: ramsden sc. Sci Rep. 2019 Nov 12;9(1):16576. doi: 10.1038/s41598-019-51768-8. Sci Rep. 2019. PMID: 31719542 Free PMC article.

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