Crolla JA - Search Results

1

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: crolla ja. J Med Genet. 1999 Apr;36(4):279-84. J Med Genet. 1999. PMID: 10227393 Free PMC article.

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

A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study.

Coles K, Mackenzie M, Crolla J, Harvey J, Starr J, Howard F, Jacobs P. Coles K, et al. J Med Genet. 1992 Jun;29(6):400-6. doi: 10.1136/jmg.29.6.400. J Med Genet. 1992. PMID: 1619635 Free PMC article.

4

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. 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.

5

A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome.

Jacobs PA, Betts PR, Cockwell AE, Crolla JA, Mackenzie MJ, Robinson DO, Youings SA. Jacobs PA, et al. Among authors: crolla ja. Ann Hum Genet. 1990 Jul;54(3):209-23. doi: 10.1111/j.1469-1809.1990.tb00379.x. Ann Hum Genet. 1990. PMID: 2221825

6

Three patients with ring (X) chromosomes and a severe phenotype.

Dennis NR, Collins AL, Crolla JA, Cockwell AE, Fisher AM, Jacobs PA. Dennis NR, et al. Among authors: crolla ja. J Med Genet. 1993 Jun;30(6):482-6. doi: 10.1136/jmg.30.6.482. J Med Genet. 1993. PMID: 8326492 Free PMC article.

7

X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.

Hatchwell E, Robinson D, Crolla JA, Cockwell AE. Hatchwell E, et al. Among authors: crolla ja. J Med Genet. 1996 Mar;33(3):216-20. doi: 10.1136/jmg.33.3.216. J Med Genet. 1996. PMID: 8728694 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

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

10

Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines.

Tabiner M, Youings S, Dennis N, Baldwin D, Buis C, Mayers A, Jacobs PA, Crolla JA. Tabiner M, et al. Among authors: crolla ja. Am J Hum Genet. 2003 Mar;72(3):535-8. doi: 10.1086/367777. Epub 2003 Jan 24. Am J Hum Genet. 2003. PMID: 12548501 Free PMC article.

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