Barber JC - Search Results

1

Unbalanced translocation in a mother and her son in one of two 5;10 translocation families.

Barber JC, Temple IK, Campbell PL, Collinson MN, Campbell CM, Renshaw RM, Dennis NR. Barber JC, et al. Am J Med Genet. 1996 Mar 1;62(1):84-90. doi: 10.1002/(SICI)1096-8628(19960301)62:1<84::AID-AJMG17>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8779332

2

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.

Bateman MS, Collinson MN, Bunyan DJ, Collins AL, Duncan P, Firth R, Harrison V, Homfray T, Huang S, Kirk B, Lachlan KL, Maloney VK, Barber JCK. Bateman MS, et al. Among authors: barber jck. Am J Med Genet A. 2018 Feb;176(2):319-329. doi: 10.1002/ajmg.a.38564. Epub 2017 Dec 1. Am J Med Genet A. 2018. PMID: 29194955

3

Diaphragmatic herniae and translocations involving 8q22 in two patients.

Temple IK, Barber JC, James RS, Burge D. Temple IK, et al. Among authors: barber jc. J Med Genet. 1994 Sep;31(9):735-7. doi: 10.1136/jmg.31.9.735. J Med Genet. 1994. PMID: 7815446 Free PMC article.

4

Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8.

Barber JC, James RS, Patch C, Temple IK. Barber JC, et al. Am J Med Genet. 1994 Apr 15;50(3):296-9. doi: 10.1002/ajmg.1320500315. Am J Med Genet. 1994. PMID: 8042676

5

Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels.

Fisher AM, Barber JC, Crolla JA, James RS, Lestas AN, Jennings I, Dennis NR. Fisher AM, et al. Among authors: barber jc. Am J Med Genet. 1993 Aug 1;47(1):100-5. doi: 10.1002/ajmg.1320470121. Am J Med Genet. 1993. PMID: 8368238 Review.

6

Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.

Joyce CA, Zorich B, Pike SJ, Barber JC, Dennis NR. Joyce CA, et al. Among authors: barber jc. J Med Genet. 1996 Dec;33(12):986-92. doi: 10.1136/jmg.33.12.986. J Med Genet. 1996. PMID: 9004128 Free PMC article.

7

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

Browne CE, Dennis NR, Maher E, Long FL, Nicholson JC, Sillibourne J, Barber JC. Browne CE, et al. Among authors: barber jc. Am J Hum Genet. 1997 Dec;61(6):1342-52. doi: 10.1086/301624. Am J Hum Genet. 1997. PMID: 9399882 Free PMC article.

8

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

Barber JC, Joyce CA, Collinson MN, Nicholson JC, Willatt LR, Dyson HM, Bateman MS, Green AJ, Yates JR, Dennis NR. Barber JC, et al. J Med Genet. 1998 Jun;35(6):491-6. doi: 10.1136/jmg.35.6.491. J Med Genet. 1998. PMID: 9643291 Free PMC article.

9

Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.

Gardner RJ, Mungall AJ, Dunham I, Barber JC, Shield JP, Temple IK, Robinson DO. Gardner RJ, et al. Among authors: barber jc. J Med Genet. 1999 Mar;36(3):192-6. J Med Genet. 1999. PMID: 10204843 Free PMC article.

10

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences.

Barber JC, Thomas NS, Collinson MN, Dennis NR, Liehr T, Weise A, Belitz B, Pfeiffer L, Kirchhoff M, Krag-Olsen B, Lundsteen C. Barber JC, et al. Eur J Hum Genet. 2005 Mar;13(3):283-91. doi: 10.1038/sj.ejhg.5201267. Eur J Hum Genet. 2005. PMID: 15657610

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