Jacobs PA - Search Results

1

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. Among authors: jacobs pa. Hum Genet. 2002 Mar;110(3):227-34. doi: 10.1007/s00439-002-0678-6. Epub 2002 Feb 2. Hum Genet. 2002. PMID: 11935334

2

Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man.

Thomas NS, Durkie M, Van Zyl B, Sanford R, Potts G, Youings S, Dennis N, Jacobs P. Thomas NS, et al. Hum Genet. 2006 May;119(4):444-50. doi: 10.1007/s00439-006-0157-6. Epub 2006 Feb 22. Hum Genet. 2006. PMID: 16493556

3

Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines.

Tabiner M, Youings S, Dennis N, Baldwin D, Buis C, Mayers A, Jacobs PA, Crolla JA. Tabiner M, et al. Among authors: jacobs pa. Am J Hum Genet. 2003 Mar;72(3):535-8. doi: 10.1086/367777. Epub 2003 Jan 24. Am J Hum Genet. 2003. PMID: 12548501 Free PMC article.

4

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.

Thomas NS, Durkie M, Potts G, Sandford R, Van Zyl B, Youings S, Dennis NR, Jacobs PA. Thomas NS, et al. Among authors: jacobs pa. Eur J Hum Genet. 2006 Jul;14(7):831-7. doi: 10.1038/sj.ejhg.5201617. Epub 2006 Apr 12. Eur J Hum Genet. 2006. PMID: 16617304

5

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, Jacobs P. Bolton PF, et al. Am J Med Genet. 2001 Dec 8;105(8):675-85. doi: 10.1002/ajmg.1551. Am J Med Genet. 2001. PMID: 11803514 Review.

6

A study of females with deletions of the short arm of the X chromosome.

James RS, Coppin B, Dalton P, Dennis NR, Mitchell C, Sharp AJ, Skuse DH, Thomas NS, Jacobs PA. James RS, et al. Among authors: jacobs pa. Hum Genet. 1998 May;102(5):507-16. doi: 10.1007/s004390050733. Hum Genet. 1998. PMID: 9654198

7

Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.

Turner C, Dennis NR, Skuse DH, Jacobs PA. Turner C, et al. Among authors: jacobs pa. Hum Genet. 2000 Jan;106(1):93-100. doi: 10.1007/s004390051015. Hum Genet. 2000. PMID: 10982188

8

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. Among authors: jacobs pa. 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.

9

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.

Murray A, Youings S, Dennis N, Latsky L, Linehan P, McKechnie N, Macpherson J, Pound M, Jacobs P. Murray A, et al. Hum Mol Genet. 1996 Jun;5(6):727-35. doi: 10.1093/hmg/5.6.727. Hum Mol Genet. 1996. PMID: 8776586

10

A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes.

Dennis N, Coppin B, Turner C, Skuse D, Jacobs P. Dennis N, et al. Ann Hum Genet. 2000 Jul;64(Pt 4):277-93. doi: 10.1017/S0003480000008162. Ann Hum Genet. 2000. PMID: 11415513

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