Works by Cox, Diane W.

Results: 31

Genes for immunoglobulin heavy chains and for α<sub>1</sub>-antitrypsin are localized to specific regions of chromosome 14q.

Published in:

Nature, 1982, v. 297, n. 5865, p. 428, doi. 10.1038/297428a0

By:

Cox, Diane W.;
Markovic, Vera D.;
Teshima, Ikuko E.

Publication type:

Article

R eview: Molecular approaches to inherited liver disease. Focus on Wilson disease.

Published in:

Journal of Gastroenterology & Hepatology, 1997, v. 12, n. 9/10, p. S251, doi. 10.1111/j.1440-1746.1997.tb00508.x

By:

COX, DIANE W

Publication type:

Article

Disorders of copper transport.

Published in:

British Medical Bulletin, 1999, v. 55, n. 3, p. 544, doi. 10.1258/0007142991902619

By:

Cox, Diane W

Publication type:

Article

Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 4, p. 315, doi. 10.1038/sj.ejhg.5200963

By:

Kamnasaran, Deepak;
O'Brien, Patricia C;
Zackai, Elaine H;
Muenke, Maximilian;
Ferguson-Smith, Malcolm A;
Cox, Diane W

Publication type:

Article

His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 616, doi. 10.1038/sj.ejhg.5200237

By:

Ha-Hao, Duc;
Hefter, Harald;
Stremmel, Wolfgang;
Castañeda-Guillot, Carlos;
Hernández, Ana Hernández;
Cox, Diane W;
Auburger, Georg

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

By:

Ferda Percin, E.;
Ploder, Lynda A.;
Yu, Jessica J.;
Arici, Kemal;
Jonathan Horsford, D.;
Rutherford, Adam;
Bapat, Bharati;
Cox, Diane W.;
Duncan, Alessandra M.V.;
Kalnins, Vitauts I.;
Kocak-Altintas, Aysegul;
Sowden, Jane C.;
Traboulsi, Elias;
Sarfarazi, Mansoor;
McInnes, Roderick R.

Publication type:

Article

Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 501, doi. 10.1093/hmg/8.3.501

By:

van de Sluis, Bart J. A.;
Breen, Matthew;
Nanji, Manoj;
van Wolferen, Monique;
de Jong, Pieter;
Binns, Matthew M.;
Pearson, Peter L.;
Kuipers, Jeroen;
Rothuizen, Jan;
Cox, Diane W.;
Wijmenga, Cisca;
van Oost, Bernard A.

Publication type:

Article

The Toxic Milk Mouse is a Murine Model of Wilson Disease.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1619, doi. 10.1093/hmg/5.10.1619

By:

Theophilos, Michael B.;
Cox, Diane W.;
Mercer, Julian F. B.

Publication type:

Article

A heat shock gene at 14q22: mapping and expression.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1819

By:

Roux, Anne-Françoise;
Nguyen, T.T. Van;
Squire, Jeremy A.;
Cox, Diane W.

Publication type:

Article

COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiology.

Published in:

2005

By:

Cox, Diane W.

Publication type:

Letter

Genetic Markers in Blood in a Canadian Eskimo Population with a Comparison of Allele Frequencies in Circumpolar Populations.

Published in:

Human Heredity, 1974, v. 24, n. 2, p. 114, doi. 10.1159/000152645

By:

McAlpine, Phyllis J.;
Chen, S.-H.;
Cox, Diane W.;
Dossetor, J.B.;
Giblett, Eloise;
Steinberg, A.G.;
Simpson, Nancy E.

Publication type:

Article

A (CA)n repeat polymorphism at the 5′ end of the α1antitrypsin gene (PI).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 10, p. 1752

By:

Byth, Barbara C.;
Cox, Diane W.

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

By:

Byth, Barbara C.;
Meijers, Joost C.M.;
Cox, Diane W.

Publication type:

Article

Two consecutive dinucleotide repeats constitute an informative marker at the α1-antichymotrypsin (AACT) locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1085

By:

Byth, Barbara C.;
Cox, Diane W.

Publication type:

Article

Polymorphism of the protein C inhibitor (PCI) gene on chromosome 14.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 1, p. 92

By:

Ashbourne, Katherine J.;
Byth, Barbara C.;
Meijers, Joost C.M.;
Cox, Diane W.

Publication type:

Article

Loss of taste with clopidogrel.

Published in:

2008

By:

Cave AJ;
Cox DW;
Vicaruddin O;
Cave, Andrew J;
Cox, Diane W;
Vicaruddin, Ozair

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

By:

Cave, Andrew J.;
Cox, Diane W.;
Vicaruddin, Ozair

Publication type:

Article

Prenatal diagnosis for alpha1-antitrypsin deficiency.

Published in:

Prenatal Diagnosis, 2004, v. 24, n. 6, p. 468, doi. 10.1002/pd.901

By:

Cox, Diane W.

Publication type:

Article

Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 491, doi. 10.1002/humu.20674

By:

Hsi, Gloria;
Cullen, Lara M.;
Macintyre, Georgina;
Chen, Matthew M.;
Glerum, D. Moira;
Cox, Diane W.

Publication type:

Article

Sequence variation database for the Wilson disease copper transporter, ATP7B.

Published in:

2007

By:

Kenney, Susan M.;
Cox, Diane W.

Publication type:

Other

Functional analysis of variants of the Wilson disease copper transporter, ATP7B.

Published in:

2011

By:

Benusic, Michael A.;
Macintyre, Georgina;
Cox, Diane W.

Publication type:

Abstract

A comparison of the mutation spectra of Menkes disease and Wilson disease.

Published in:

Human Genetics, 2004, v. 114, n. 2, p. 165, doi. 10.1007/s00439-003-1045-y

By:

Hsi, Gloria;
Cox, Diane W.

Publication type:

Article

Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis.

Published in:

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

By:

Pigg, Maritta;
Gedde-Dahl, Tobias;
Cox, Diane W.;
Haugen, Guttorm;
Dahl, Niklas

Publication type:

Article

New haplotypes in the Bedlington terrier indicate complexity in copper toxicosis.

Published in:

Mammalian Genome, 2003, v. 14, n. 7, p. 483, doi. 10.1007/s00335-002-2255-3

By:

Coronado, Veronica A.;
Damaraju, Deepti;
Kohijoki, Ritva;
Cox, Diane W.

Publication type:

Article

Tissue localization of the copper chaperone ATOX1 and its potential role in disease.

Published in:

Mammalian Genome, 2002, v. 13, n. 10, p. 563, doi. 10.1007/s00335-002-2172-9

By:

Moore, Steven D.P.;
Helmle, Karmon E.;
Prat, Lisa M.;
Cox, Diane W.

Publication type:

Article

The Jackson toxic milk mouse as a model for copper loading.

Published in:

Mammalian Genome, 2001, v. 12, n. 10, p. 793, doi. 10.1007/s00335-001-3021-y

By:

Coronado, Veronica;
Nanji, Manoj;
Cox, Diane W.

Publication type:

Article

ATP6H, a subunit of vacuolar ATPase involved in metal transport: evaluation in canine copper toxicosis.

Published in:

Mammalian Genome, 2001, v. 12, n. 8, p. 617, doi. 10.1007/s00335-001-2059-1

By:

Nanji, Manoj;
Coronado, Veronica A.;
Cox, Diane W.

Publication type:

Article

Comparative mapping of human Chromosome 14q11.2-q13 genes with mouse homologous gene regions.

Published in:

Mammalian Genome, 2000, v. 11, n. 11, p. 993, doi. 10.1007/s003350010183

By:

Kamnasaran, Deepak;
O'Brien, Patricia C. M.;
Ferguson-Smith, Malcolm A.;
Cox, Diane W.

Publication type:

Article

The genetics of and associated clinical findings in humero-radial synostosis.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 470, doi. 10.1111/j.1399-0004.1976.tb01599.x

By:

Hunter, Alasdair G. W.;
Cox, Diane W.;
Rudd, Noreen L.

Publication type:

Article

Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 569, doi. 10.1002/humu.21228

By:

Luoma, Leiah M.;
Deeb, Taha M.M.;
Macintyre, Georgina;
Cox, Diane W.

Publication type:

Article

A Screening Test for Wilson's Disease and its Application to Psychiatric Patients.

Published in:

Canadian Medical Association Journal, 1967, v. 96, n. 2, p. 83

By:

COX, DIANE W.

Publication type:

Article