Jacobs PA - Search Results

1

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

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

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

4

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

5

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.

6

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

7

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.

8

A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin.

Thomas NS, Collins AR, Hassold TJ, Jacobs PA. Thomas NS, et al. Among authors: jacobs pa. Eur J Hum Genet. 2000 Oct;8(10):805-8. doi: 10.1038/sj.ejhg.5200531. Eur J Hum Genet. 2000. PMID: 11039584

9

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.

Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple IK, Youings SA, Thomas NS, Dennis NR, Jacobs PA, Crolla JA, Carter NP. Gribble SM, et al. Among authors: jacobs pa. J Med Genet. 2005 Jan;42(1):8-16. doi: 10.1136/jmg.2004.024141. J Med Genet. 2005. PMID: 15635069 Free PMC article.

10

A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.

Crolla JA, Dennis NR, Jacobs PA. Crolla JA, et al. Among authors: jacobs pa. J Med Genet. 1992 Oct;29(10):699-703. doi: 10.1136/jmg.29.10.699. J Med Genet. 1992. PMID: 1433228 Free PMC article.

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