Works matching AU Cox, Diane W.
Results: 31
Genetic Markers in Blood in a Canadian Eskimo Population with a Comparison of Allele Frequencies in Circumpolar Populations.
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- Human Heredity, 1974, v. 24, n. 2, p. 114, doi. 10.1159/000152645
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- Publication type:
- Article
A comparison of the mutation spectra of Menkes disease and Wilson disease.
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- Human Genetics, 2004, v. 114, n. 2, p. 165, doi. 10.1007/s00439-003-1045-y
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- Publication type:
- Article
The genetics of and associated clinical findings in humero-radial synostosis.
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- Clinical Genetics, 1976, v. 9, n. 5, p. 470, doi. 10.1111/j.1399-0004.1976.tb01599.x
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- Publication type:
- Article
Prenatal diagnosis for alpha1-antitrypsin deficiency.
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- Prenatal Diagnosis, 2004, v. 24, n. 6, p. 468, doi. 10.1002/pd.901
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- Publication type:
- Article
Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis.
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- Prenatal Diagnosis, 2000, v. 20, n. 2, p. 132, doi. 10.1002/(SICI)1097-0223(200002)20:2<132::AID-PD765>3.0.CO;2-0
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- Publication type:
- Article
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
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- Human Mutation, 2010, v. 31, n. 5, p. 569, doi. 10.1002/humu.21228
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- Publication type:
- Article
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
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- Human Mutation, 2008, v. 29, n. 4, p. 491, doi. 10.1002/humu.20674
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- Publication type:
- Article
Sequence variation database for the Wilson disease copper transporter, ATP7B.
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- 2007
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- Publication type:
- Other
Disorders of copper transport.
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- British Medical Bulletin, 1999, v. 55, n. 3, p. 544, doi. 10.1258/0007142991902619
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- Article
COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiology.
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- 2005
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- Publication type:
- Letter
Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 501, doi. 10.1093/hmg/8.3.501
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- Publication type:
- Article
The Toxic Milk Mouse is a Murine Model of Wilson Disease.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1619, doi. 10.1093/hmg/5.10.1619
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- Publication type:
- Article
A heat shock gene at 14q22: mapping and expression.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1819
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- Publication type:
- Article
A (CA)n repeat polymorphism at the 5′ end of the α1antitrypsin gene (PI).
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1752
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- Publication type:
- Article
A (CA)n repeat polymorphism in the protein C inhibitor (PCI) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1752
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- Publication type:
- Article
Two consecutive dinucleotide repeats constitute an informative marker at the α1-antichymotrypsin (AACT) locus.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1085
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- Publication type:
- Article
Polymorphism of the protein C inhibitor (PCI) gene on chromosome 14.
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- Human Molecular Genetics, 1993, v. 2, n. 1, p. 92
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- Publication type:
- Article
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.
- Published in:
- Nature Genetics, 2000, v. 25, n. 4, p. 397, doi. 10.1038/78071
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- Publication type:
- Article
Genes for immunoglobulin heavy chains and for α<sub>1</sub>-antitrypsin are localized to specific regions of chromosome 14q.
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- Nature, 1982, v. 297, n. 5865, p. 428, doi. 10.1038/297428a0
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- Publication type:
- Article
Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.
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- European Journal of Human Genetics, 2003, v. 11, n. 4, p. 315, doi. 10.1038/sj.ejhg.5200963
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- Publication type:
- Article
His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 616, doi. 10.1038/sj.ejhg.5200237
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- Publication type:
- Article
A Screening Test for Wilson's Disease and its Application to Psychiatric Patients.
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- Canadian Medical Association Journal, 1967, v. 96, n. 2, p. 83
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- Publication type:
- Article
New haplotypes in the Bedlington terrier indicate complexity in copper toxicosis.
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- Mammalian Genome, 2003, v. 14, n. 7, p. 483, doi. 10.1007/s00335-002-2255-3
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- Publication type:
- Article
Tissue localization of the copper chaperone ATOX1 and its potential role in disease.
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- Mammalian Genome, 2002, v. 13, n. 10, p. 563, doi. 10.1007/s00335-002-2172-9
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- Publication type:
- Article
The Jackson toxic milk mouse as a model for copper loading.
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- Mammalian Genome, 2001, v. 12, n. 10, p. 793, doi. 10.1007/s00335-001-3021-y
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- Publication type:
- Article
ATP6H, a subunit of vacuolar ATPase involved in metal transport: evaluation in canine copper toxicosis.
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- Mammalian Genome, 2001, v. 12, n. 8, p. 617, doi. 10.1007/s00335-001-2059-1
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- Publication type:
- Article
Comparative mapping of human Chromosome 14q11.2-q13 genes with mouse homologous gene regions.
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- Mammalian Genome, 2000, v. 11, n. 11, p. 993, doi. 10.1007/s003350010183
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- Publication type:
- Article
R eview: Molecular approaches to inherited liver disease. Focus on Wilson disease.
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- Journal of Gastroenterology & Hepatology, 1997, v. 12, n. 9/10, p. S251, doi. 10.1111/j.1440-1746.1997.tb00508.x
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- Publication type:
- Article
Loss of taste with clopidogrel.
- Published in:
- 2008
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- Publication type:
- journal article
Loss of taste with clopidogrel.
- Published in:
- Canadian Family Physician / Médecin de Famille Canadien, 2008, v. 54, n. 2, p. 195
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- Publication type:
- Article
Functional analysis of variants of the Wilson disease copper transporter, ATP7B.
- Published in:
- 2011
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- Publication type:
- Abstract