Crolla JA - 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: crolla ja. 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: 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.

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. Among authors: crolla ja. 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. Among authors: crolla ja. 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

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.

6

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: crolla ja. 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

7

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. Among authors: crolla ja. 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.

8

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. Among authors: crolla ja. 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.

9

Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions.

Bunyan DJ, Crolla JA, Collins AL, Robinson DO. Bunyan DJ, et al. Among authors: crolla ja. Hum Genet. 1995 Jan;95(1):43-5. doi: 10.1007/BF00225072. Hum Genet. 1995. PMID: 7814024

10

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

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