Cox DW - Search Results

1

FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures.

Schlade-Bartusiak K, Costa T, Summers AM, Nowaczyk MJ, Cox DW. Schlade-Bartusiak K, et al. Among authors: cox dw. Am J Med Genet A. 2005 Oct 15;138A(3):218-24. doi: 10.1002/ajmg.a.30942. Am J Med Genet A. 2005. PMID: 16152642

2

A child with deletion (14)(q24.3q32.13) and auditory neuropathy.

Schlade-Bartusiak K, Macintyre G, Zunich J, Cox DW. Schlade-Bartusiak K, et al. Among authors: cox dw. Am J Med Genet A. 2008 Jan 1;146A(1):117-23. doi: 10.1002/ajmg.a.32064. Am J Med Genet A. 2008. PMID: 18074379

3

A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations.

Schlade-Bartusiak K, Ardinger H, Cox DW. Schlade-Bartusiak K, et al. Among authors: cox dw. Am J Med Genet A. 2009 May;149A(5):1012-8. doi: 10.1002/ajmg.a.32752. Am J Med Genet A. 2009. PMID: 19365838

4

Molecular analysis redefines three human chromosome 14 deletions.

Wintle RF, Costa T, Haslam RH, Teshima IE, Cox DW. Wintle RF, et al. Among authors: cox dw. Hum Genet. 1995 May;95(5):495-500. doi: 10.1007/BF00223859. Hum Genet. 1995. PMID: 7759068

5

A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease.

Wilson AM, Schlade-Bartusiak K, Tison JL, Macintyre G, Cox DW. Wilson AM, et al. Among authors: cox dw. Biochimie. 2009 Oct;91(10):1342-5. doi: 10.1016/j.biochi.2009.06.008. Epub 2009 Jun 21. Biochimie. 2009. PMID: 19540904

6

Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes.

Kamnasaran D, O'Brien PC, Schuffenhauer S, Quarrell O, Lupski JR, Grammatico P, Ferguson-Smith MA, Cox DW. Kamnasaran D, et al. Among authors: cox dw. Am J Med Genet. 2001 Aug 1;102(2):173-82. doi: 10.1002/ajmg.1418. Am J Med Genet. 2001. PMID: 11477612

7

Current status of human chromosome 14.

Kamnasaran D, Cox DW. Kamnasaran D, et al. Among authors: cox dw. J Med Genet. 2002 Feb;39(2):81-90. doi: 10.1136/jmg.39.2.81. J Med Genet. 2002. PMID: 11836355 Free PMC article. Review.

8

Disruption of the neuronal PAS3 gene in a family affected with schizophrenia.

Kamnasaran D, Muir WJ, Ferguson-Smith MA, Cox DW. Kamnasaran D, et al. Among authors: cox dw. J Med Genet. 2003 May;40(5):325-32. doi: 10.1136/jmg.40.5.325. J Med Genet. 2003. PMID: 12746393 Free PMC article.

9

Molecular analysis of three patients with interstitial deletions of chromosome band 14q31.

Byth BC, Costa MT, Teshima IE, Wilson WG, Carter NP, Cox DW. Byth BC, et al. Among authors: cox dw. J Med Genet. 1995 Jul;32(7):564-7. doi: 10.1136/jmg.32.7.564. J Med Genet. 1995. PMID: 7562974 Free PMC article.

10

Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease.

Cullen LM, Prat L, Cox DW. Cullen LM, et al. Among authors: cox dw. Clin Genet. 2003 Nov;64(5):429-32. doi: 10.1034/j.1399-0004.2003.00160.x. Clin Genet. 2003. PMID: 14616767

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