Cockwell AE - Search Results

1

Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy.

Bunyan DJ, Robinson DO, Collins AL, Cockwell AE, Bullman HM, Whittaker PA. Bunyan DJ, et al. Among authors: cockwell ae. Hum Genet. 1994 May;93(5):541-4. doi: 10.1007/BF00202820. Hum Genet. 1994. PMID: 8168831

2

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: cockwell ae. Ann Hum Genet. 1990 Jul;54(3):209-23. doi: 10.1111/j.1469-1809.1990.tb00379.x. Ann Hum Genet. 1990. PMID: 2221825

3

A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.

Collins AL, Cockwell AE, Jacobs PA, Dennis NR. Collins AL, et al. Among authors: cockwell ae. J Med Genet. 1994 Jul;31(7):528-33. doi: 10.1136/jmg.31.7.528. J Med Genet. 1994. PMID: 7966189 Free PMC article. Review.

4

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: cockwell ae. 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.

5

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: cockwell ae. 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.

6

Further case of trisomy 18 mosaicism with a mild phenotype.

Collins AL, Fisher J, Crolla JA, Cockwell AE. Collins AL, et al. Among authors: cockwell ae. Am J Med Genet. 1995 Mar 13;56(1):121-2. doi: 10.1002/ajmg.1320560129. Am J Med Genet. 1995. PMID: 7747777 No abstract available.

7

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.

Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P. Fisher AM, et al. Hum Genet. 2002 Sep;111(3):290-6. doi: 10.1007/s00439-002-0787-2. Epub 2002 Jul 20. Hum Genet. 2002. PMID: 12215843

8

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

9

Investigation of the origins of human autosomal inversions.

Thomas NS, Bryant V, Maloney V, Cockwell AE, Jacobs PA. Thomas NS, et al. Among authors: cockwell ae. Hum Genet. 2008 Jul;123(6):607-16. doi: 10.1007/s00439-008-0510-z. Epub 2008 May 10. Hum Genet. 2008. PMID: 18470537

10

Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23).

Cockwell AE, James RS, Moore IE, Hatchwell E, Crolla JA. Cockwell AE, et al. J Med Genet. 1996 Jun;33(6):515-7. doi: 10.1136/jmg.33.6.515. J Med Genet. 1996. PMID: 8782055 Free PMC article.

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