Cockwell AE - Search Results

1

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.

2

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.

3

FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation.

Cockwell AE, Dávalos IP, Rivera HR, Crolla JA. Cockwell AE, et al. Am J Med Genet. 2001 Nov 1;103(4):289-94. Am J Med Genet. 2001. PMID: 11746008

4

Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect.

Cockwell AE, Baker SJ, Connarty M, Moore IE, Crolla JA. Cockwell AE, et al. Am J Med Genet A. 2006 Mar 15;140(6):624-7. doi: 10.1002/ajmg.a.31129. Am J Med Genet A. 2006. PMID: 16470696

5

The origin of trisomy 13.

Hall HE, Chan ER, Collins A, Judis L, Shirley S, Surti U, Hoffner L, Cockwell AE, Jacobs PA, Hassold TJ. Hall HE, et al. Among authors: cockwell ae. Am J Med Genet A. 2007 Oct 1;143A(19):2242-8. doi: 10.1002/ajmg.a.31913. Am J Med Genet A. 2007. PMID: 17853475

6

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.

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: 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.

8

A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9.

Wilkinson TA, James RS, Crolla JA, Cockwell AE, Campbell PL, Temple IK. Wilkinson TA, et al. Among authors: cockwell ae. Prenat Diagn. 1996 Apr;16(4):371-4. doi: 10.1002/(SICI)1097-0223(199604)16:4<371::AID-PD866>3.0.CO;2-S. Prenat Diagn. 1996. PMID: 8734817

9

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.

10

An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations.

Cockwell AE, Gibbons B, Moore IE, Crolla JA. Cockwell AE, et al. J Med Genet. 2000 Oct;37(10):807-10. doi: 10.1136/jmg.37.10.807. J Med Genet. 2000. PMID: 11183190 Free PMC article. No abstract available.

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