Diane W Cox

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Diane W



Publications in SciGraph latest 50 shown

  • 2014-12 NPAS3 variants in schizophrenia: a neuroimaging study in BMC MEDICAL GENETICS
  • 2011-08 Call for participation in the neurogenetics consortium within the Human Variome Project in NEUROGENETICS
  • 2004-01 A comparison of the mutation spectra of Menkes disease and Wilson disease in HUMAN GENETICS
  • 2003-07 New haplotypes in the Bedlington terrier indicate complexity in copper toxicosis in MAMMALIAN GENOME
  • 2003-04 Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2002-10 Tissue localization of the copper chaperone ATOX1 and its potential role in disease in MAMMALIAN GENOME
  • 2002-10 Copper Transporting P-Type ATPases and Human Disease in JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
  • 2001-10 The Jackson toxic milk mouse as a model for copper loading in MAMMALIAN GENOME
  • 2001-08 ATP6H, a subunit of vacuolar ATPase involved in metal transport: evaluation in canine copper toxicosis in MAMMALIAN GENOME
  • 2000-11 Comparative mapping of human Chromosome 14q11.2-q13 genes with mouse homologous gene regions in MAMMALIAN GENOME
  • 2000-08 Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 in NATURE GENETICS
  • 2000 Copper Transport Disorders: Wilson Disease and Menkes Disease in INBORN METABOLIC DISEASES
  • 1999 The Copper-Transporting ATpase Defective in Wilson Disease in METALS AND GENETICS
  • 1998-11 Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1998-11 His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1996 The Copper-Transporting ATPases Defective in Menkes Disease and Wilson Disease in THERAPEUTIC USES OF TRACE ELEMENTS
  • 1995-05 Molecular analysis redefines three human chromosome 14 deletions in HUMAN GENETICS
  • 1995-01 Defining the breakpoint of a multigene deletion in the immunoglobulin heavy chain gene cluster in IMMUNOGENETICS
  • 1994-12 The immunoglobulin heavy chain and disease association: application to pemphigus vulgaris in HUMAN GENETICS
  • 1994-12 α1-Antitrypsin Protects Neonatal Rats from Pulmonary Vascular and Parenchymal Effects of Oxygen Toxicity in PEDIATRIC RESEARCH
  • 1994-02 Corrigendum: The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene in NATURE GENETICS
  • 1993-12 The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene in NATURE GENETICS
  • 1992-09 Involvement of both HLA and Ig heavy chain haplotypes in human IgA deficiency in IMMUNOGENETICS
  • 1992-05-11 Two-Dimensional DNA Electrophoresis (2D-DE) for Mammalian DNA in PULSED-FIELD GEL ELECTROPHORESIS
  • 1990-10 A multigene deletion in the immunoglobulin heavy chain region in a highly atopic individual in HUMAN GENETICS
  • 1989-11 Deletion/frameshift mutation in the α1 null allele, PI*QObolton in HUMAN GENETICS
  • 1986-06 Restriction fragment length polymorphisms associated with immunoglobulin heavy chain gamma genes in Tunisians in HUMAN GENETICS
  • 1985-07 DNA restriction fragments associated with α1-antitrypsin indicate a single origin for deficiency allele PI Z in NATURE
  • 1985-06 Direct assignment of orosomucoid to human chromosome 9 and α2HS-glycoprotein to chromosome 3 using human fetal liver x rat hepatoma hybrids in HUMAN GENETICS
  • 1983 Alpha-1-Antitrypsin Deficiency in PEDIATRIC LIVER DISEASE
  • 1982-09 Functional assessment of genetic variants of α1-Antitrypsin in HUMAN GENETICS
  • 1982-09 Three new rare variants of α1-Antitrypsin in HUMAN GENETICS
  • 1982-06 Genes for immunoglobulin heavy chains and for α1-antitrypsin are localized to specific regions of chromosome 14q in NATURE
  • 1982-05 α2-Macroglobulin production by cultured human fibroblasts in SOMATIC CELL GENETICS
  • 1981 Erratum to: The Pi Polymorphism in ADVANCES IN HUMAN GENETICS 11
  • 1981 The Pi Polymorphism in ADVANCES IN HUMAN GENETICS 11
  • 1980-03 Report of nomenclature meeting for α1-antitrypsin in HUMAN GENETICS
  • 1980 Introduction to Deficiencies of Apolipoproteins CII and EIII With Some Associated Clinical Findings in ATHEROSCLEROSIS V
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