Barber JC - Search Results

1

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.

2

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.

3

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

4

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.

5

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.

6

Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level.

Barber JC, Reed CJ, Dahoun SP, Joyce CA. Barber JC, et al. Hum Genet. 1999 Mar;104(3):211-8. doi: 10.1007/s004390050938. Hum Genet. 1999. PMID: 10323244 Review.

7

Multipaint FISH: a rapid and reliable way to define cryptic and complex abnormalities.

Joyce CA, Ross FM, Dennis NR, Wyre ND, Barber JC. Joyce CA, et al. Among authors: barber jc. Clin Genet. 1999 Sep;56(3):192-9. doi: 10.1034/j.1399-0004.1999.560303.x. Clin Genet. 1999. PMID: 10563478

8

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

9

Small terminal deletions of the long arm of chromosome 2: two new cases.

Fisher AM, Ellis KH, Browne CE, Barber JC, Barker M, Kennedy CR, Foley H, Patton MA. Fisher AM, et al. Among authors: barber jc. Am J Med Genet. 1994 Dec 1;53(4):366-9. doi: 10.1002/ajmg.1320530412. Am J Med Genet. 1994. PMID: 7532357

10

In memoriam: Dr Marina Seabright.

Barber J, Cockwell A, Herbert T, Dennis N, Harvey J, McDermott A. Barber J, et al. Eur J Hum Genet. 2007 Nov;15(11):1191-2. doi: 10.1038/sj.ejhg.5201928. Eur J Hum Genet. 2007. PMID: 17960153 No abstract available.

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