Jacobs PA - Search Results

1

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

Mercer CL, Lachlan K, Karcanias A, Affara N, Huang S, Jacobs PA, Thomas NS. Mercer CL, et al. Among authors: jacobs pa. Eur J Med Genet. 2013 Jan;56(1):1-6. doi: 10.1016/j.ejmg.2012.08.012. Epub 2012 Oct 8. Eur J Med Genet. 2013. PMID: 23059468

2

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

3

A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions.

Lachlan KL, Youings S, Costa T, Jacobs PA, Thomas NS. Lachlan KL, et al. Among authors: jacobs pa. Hum Genet. 2006 Jan;118(5):640-51. doi: 10.1007/s00439-005-0081-1. Epub 2005 Nov 8. Hum Genet. 2006. PMID: 16283387

4

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

5

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

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

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

8

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

9

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

10

De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance.

Sibbons C, Morris JK, Crolla JA, Jacobs PA, Thomas NS. Sibbons C, et al. Among authors: jacobs pa. Eur J Hum Genet. 2012 Feb;20(2):155-60. doi: 10.1038/ejhg.2011.182. Epub 2011 Sep 28. Eur J Hum Genet. 2012. PMID: 21952720 Free PMC article.

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