Crolla JA - Search Results

1

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: crolla ja. Eur J Hum Genet. 2005 Nov;13(11):1205-12. doi: 10.1038/sj.ejhg.5201488. Eur J Hum Genet. 2005. PMID: 16118644

2

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: crolla ja. Hum Genet. 2003 Mar;112(3):298-302. doi: 10.1007/s00439-002-0887-z. Epub 2003 Jan 8. Hum Genet. 2003. PMID: 12596054

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. Eur J Hum Genet. 2005 Feb;13(2):154-60. doi: 10.1038/sj.ejhg.5201311. Eur J Hum Genet. 2005. PMID: 15508017

4

Distribution of the D15Z1 copy number polymorphism.

Cockwell AE, Jacobs PA, Crolla JA. Cockwell AE, et al. Among authors: crolla ja. 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

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: crolla ja. 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

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: crolla ja. 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

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: crolla ja. 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

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: crolla ja. 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

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: crolla ja. 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 candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation.

McMullan TW, Crolla JA, Gregory SG, Carter NP, Cooper RA, Howell GR, Robinson DO. McMullan TW, et al. Among authors: crolla ja. Hum Genet. 2002 Mar;110(3):244-50. doi: 10.1007/s00439-002-0679-5. Epub 2002 Feb 1. Hum Genet. 2002. PMID: 11935336

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