Jacobs PA - Search Results

1

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

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

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

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

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

6

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.

7

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4).

Thomas NS, Maloney V, Bryant V, Huang S, Brewer C, Lachlan K, Jacobs PA. Thomas NS, et al. Among authors: jacobs pa. Hum Genet. 2009 Mar;125(2):181-8. doi: 10.1007/s00439-008-0611-8. Epub 2008 Dec 24. Hum Genet. 2009. PMID: 19104840

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

Functional disomy resulting from duplications of distal Xq in four unrelated patients.

Lachlan KL, Collinson MN, Sandford RO, van Zyl B, Jacobs PA, Thomas NS. Lachlan KL, et al. Among authors: jacobs pa. Hum Genet. 2004 Oct;115(5):399-408. doi: 10.1007/s00439-004-1175-x. Epub 2004 Aug 24. Hum Genet. 2004. PMID: 15338277

10

De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age.

Thomas NS, Morris JK, Baptista J, Ng BL, Crolla JA, Jacobs PA. Thomas NS, et al. Among authors: jacobs pa. J Med Genet. 2010 Feb;47(2):112-5. doi: 10.1136/jmg.2009.069716. Epub 2009 Jul 27. J Med Genet. 2010. PMID: 19638350

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