Jacobs P - Search Results

1

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays.

Fiegler H, Gribble SM, Burford DC, Carr P, Prigmore E, Porter KM, Clegg S, Crolla JA, Dennis NR, Jacobs P, Carter NP. Fiegler H, et al. Among authors: jacobs p. J Med Genet. 2003 Sep;40(9):664-70. doi: 10.1136/jmg.40.9.664. J Med Genet. 2003. PMID: 12960211 Free PMC article.

2

A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome.

Robinson DO, Dalton P, Jacobs PA, Mosse K, Power MM, Skuse DH, Crolla JA. Robinson DO, et al. Among authors: jacobs pa. J Med Genet. 1999 Apr;36(4):279-84. J Med Genet. 1999. PMID: 10227393 Free PMC article.

3

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.

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. 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

Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12).

Gole L, Crolla JA, Thomas SN, Jacobs PA, Dennis NR. Gole L, et al. Am J Med Genet A. 2004 Mar 1;125A(2):177-80. doi: 10.1002/ajmg.a.20482. Am J Med Genet A. 2004. PMID: 14981720

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

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.

8

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. 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

9

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, Jacobs P. Bolton PF, et al. Among authors: jacobs p. Am J Med Genet. 2001 Dec 8;105(8):675-85. doi: 10.1002/ajmg.1551. Am J Med Genet. 2001. PMID: 11803514 Review.

10

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.

Macpherson JN, Curtis G, Crolla JA, Dennis N, Migeon B, Grewal PK, Hirst MC, Davies KE, Jacobs PA. Macpherson JN, et al. Among authors: jacobs pa. J Med Genet. 1995 Mar;32(3):236-9. doi: 10.1136/jmg.32.3.236. J Med Genet. 1995. PMID: 7783179 Free PMC article.

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