Roberts SE - Search Results

1

Estimate of the prevalence of chromosome 15q11-q13 duplications.

Thomas NS, Roberts SE, Browne CE. Thomas NS, et al. Among authors: roberts se. Am J Med Genet A. 2003 Aug 1;120A(4):596-8. doi: 10.1002/ajmg.a.20140. Am J Med Genet A. 2003. PMID: 12884447 No abstract available.

2

A quantitative polymerase chain reaction method for determining copy number within the Prader-Willi/Angelman syndrome critical region.

Roberts SE, Thomas NS. Roberts SE, et al. Clin Genet. 2003 Jul;64(1):76-8. doi: 10.1034/j.1399-0004.2003.00094.x. Clin Genet. 2003. PMID: 12791044 No abstract available.

3

Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.

Roberts SE, Dennis NR, Browne CE, Willatt L, Woods G, Cross I, Jacobs PA, Thomas S. Roberts SE, et al. Hum Genet. 2002 Mar;110(3):227-34. doi: 10.1007/s00439-002-0678-6. Epub 2002 Feb 2. Hum Genet. 2002. PMID: 11935334

4

Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders.

Bolton PF, Veltman MW, Weisblatt E, Holmes JR, Thomas NS, Youings SA, Thompson RJ, Roberts SE, Dennis NR, Browne CE, Goodson S, Moore V, Brown J. Bolton PF, et al. Among authors: roberts se. Psychiatr Genet. 2004 Sep;14(3):131-7. doi: 10.1097/00041444-200409000-00002. Psychiatr Genet. 2004. PMID: 15318025

5

Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.

Roberts SE, Maggouta F, Thomas NS, Jacobs PA, Crolla JA. Roberts SE, et al. Am J Hum Genet. 2003 Nov;73(5):1061-72. doi: 10.1086/379155. Epub 2003 Oct 14. Am J Hum Genet. 2003. PMID: 14560400 Free PMC article.

6

Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.

Milner KM, Craig EE, Thompson RJ, Veltman MW, Thomas NS, Roberts S, Bellamy M, Curran SR, Sporikou CM, Bolton PF. Milner KM, et al. J Child Psychol Psychiatry. 2005 Oct;46(10):1089-96. doi: 10.1111/j.1469-7610.2005.01520.x. J Child Psychol Psychiatry. 2005. PMID: 16178933

7

Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders.

Veltman MW, Thompson RJ, Roberts SE, Thomas NS, Whittington J, Bolton PF. Veltman MW, et al. Among authors: roberts se. Eur Child Adolesc Psychiatry. 2004 Feb;13(1):42-50. doi: 10.1007/s00787-004-0354-6. Eur Child Adolesc Psychiatry. 2004. PMID: 14991431

8

A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion.

Collinson MN, Roberts SE, Crolla JA, Dennis NR. Collinson MN, et al. Among authors: roberts se. Am J Med Genet A. 2004 Apr 1;126A(1):27-32. doi: 10.1002/ajmg.a.26565. Am J Med Genet A. 2004. PMID: 15039970

9

A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction.

Roberts S, Maggouta F, Thompson R, Price S, Thomas S. Roberts S, et al. J Med Genet. 2002 Feb;39(2):E9. doi: 10.1136/jmg.39.2.e9. J Med Genet. 2002. PMID: 11836378 Free PMC article. No abstract available.

10

A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype.

Maggouta F, Roberts SE, Dennis NR, Veltman MW, Crolla JA. Maggouta F, et al. Among authors: roberts se. J Med Genet. 2003 Jul;40(7):e84. doi: 10.1136/jmg.40.7.e84. J Med Genet. 2003. PMID: 12843333 Free PMC article. No abstract available.

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