Jacobs PA - Search Results

1

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.

2

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

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

A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities.

Cockwell AE, Jacobs PA, Beal SJ, Crolla JA. Cockwell AE, et al. Among authors: jacobs pa. Hum Genet. 2003 Mar;112(3):298-302. doi: 10.1007/s00439-002-0887-z. Epub 2003 Jan 8. Hum Genet. 2003. PMID: 12596054

5

Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited.

Crolla JA, Youings SA, Ennis S, Jacobs PA. Crolla JA, et al. Among authors: jacobs pa. Eur J Hum Genet. 2005 Feb;13(2):154-60. doi: 10.1038/sj.ejhg.5201311. Eur J Hum Genet. 2005. PMID: 15508017

6

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.

Baptista J, Prigmore E, Gribble SM, Jacobs PA, Carter NP, Crolla JA. Baptista J, et al. Among authors: jacobs pa. Eur J Hum Genet. 2005 Nov;13(11):1205-12. doi: 10.1038/sj.ejhg.5201488. Eur J Hum Genet. 2005. PMID: 16118644

7

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

8

Distribution of the D15Z1 copy number polymorphism.

Cockwell AE, Jacobs PA, Crolla JA. Cockwell AE, et al. Among authors: jacobs pa. Eur J Hum Genet. 2007 Apr;15(4):441-5. doi: 10.1038/sj.ejhg.5201780. Epub 2007 Feb 21. Eur J Hum Genet. 2007. PMID: 17311084

9

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, Thomas NS, Jacobs PA, Crolla JA. Baptista J, et al. Among authors: jacobs pa. Am J Hum Genet. 2008 Apr;82(4):927-36. doi: 10.1016/j.ajhg.2008.02.012. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18371933 Free PMC article.

10

Investigation of the origins of human autosomal inversions.

Thomas NS, Bryant V, Maloney V, Cockwell AE, Jacobs PA. Thomas NS, et al. Among authors: jacobs pa. Hum Genet. 2008 Jul;123(6):607-16. doi: 10.1007/s00439-008-0510-z. Epub 2008 May 10. Hum Genet. 2008. PMID: 18470537

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