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Items: 1 to 20 of 23

1.
Cranial MR in Wilson disease: abnormal white matter in extrapyramidal and pyramidal tracts.
H N van Wassenaer-van Hall, A G van den Heuvel, G H Jansen, T U Hoogenraad, W P Mali
AJNR Am J Neuroradiol. 1995 Nov-Dec; 16(10): 2021-7.
PMCID:
PMC8337230
SummaryPDF–579K
2.
Tetrathiomolybdate Inhibits Copper Trafficking Proteins Through Metal Cluster Formation
Hamsell M. Alvarez, Yi Xue, Chandler D. Robinson, Mónica A. Canalizo-Hernández, Rebecca G. Marvin, Rebekah A. Kelly, Alfonso Mondragón, James E. Penner-Hahn, Thomas V. O’Halloran
Science. Author manuscript; available in PMC 2013 May 20.
Published in final edited form as: Science. 2010 Jan 15; 327(5963): 331–334. Published online 2009 Nov 26. doi: 10.1126/science.1179907
PMCID:
PMC3658115
AbstractArticlePDF–1.1M
3.
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
P de Bie, P Muller, C Wijmenga, L W J Klomp
J Med Genet. 2007 Nov; 44(11): 673–688. Published online 2007 Aug 23. doi: 10.1136/jmg.2007.052746
PMCID:
PMC2752173
AbstractArticlePDF–830K
4.
Changes in Hepatic Structure in Wilson's Disease
Paul J. Anderson, Hans Popper
Am J Pathol. 1960 May; 36(5): 483–497.
PMCID:
PMC1942296
SummaryPage BrowsePDF–2.5M
5.
Haplotype studies in Wilson disease.
G. R. Thomas, P. C. Bull, E. A. Roberts, J. M. Walshe, D. W. Cox
Am J Hum Genet. 1994 Jan; 54(1): 71–78.
PMCID:
PMC1918068
SummaryPage BrowsePDF–998K
6.
Inherited copper toxicosis in Bedlington terriers: Wilson's disease (hepatolenticular degeneration).
C. A. Owen, Jr, J. Ludwig
Am J Pathol. 1982 Mar; 106(3): 432–434.
PMCID:
PMC1916220
SummaryPage BrowsePDF–1.3M
7.
Wilson disease in Iceland: a clinical and genetic study.
G R Thomas, O Jensson, G Gudmundsson, L Thorsteinsson, D W Cox
Am J Hum Genet. 1995 May; 56(5): 1140–1146.
PMCID:
PMC1801449
SummaryPage BrowsePDF–1.1M
8.
Molecular Pathology and Haplotype Analysis of Wilson Disease in Mediterranean Populations
Annalena Figus, Andrea Angius, Georgios Loudianos, Chiara Bertini, Valeria Dessì, Angela Loi, Manila Deiana, Mario Lovicu, Nazario Olla, Gabriella Sole, Stefano De Virgiliis, Franco Lilliu, Anna Maria Giulia Farci, Annamaria Nurchi, Raffaella Giacchino, Arrigo Barabino, Maria Marazzi, Lucia Zancan, Nella A. Greggio, Matilde Marcellini, Antonello Solinas, Angelo Deplano, Cristiana Barbera, Marcella Devoto, Sinasi Ozsoylu, Nurten Kocak, Nejat Akar, Selin Karayalcin, Vahe Mokini, Paskal Cullufi, Angelo Balestrieri, Antonio Cao, Mario Pirastu
Am J Hum Genet. 1995 Dec; 57(6): 1318–1324.
PMCID:
PMC1801406
SummaryPage BrowsePDF–1.2M
9.
Haplotypes and mutations in Wilson disease.
G R Thomas, E A Roberts, J M Walshe, D W Cox
Am J Hum Genet. 1995 Jun; 56(6): 1315–1319.
PMCID:
PMC1801091
SummaryPage BrowsePDF–712K
10.
A genetic study of Wilson's disease: Evidence for heterogeneity
Diane Wilson Cox, F. Clarke Fraser, Andrew Sass-Kortsak
Am J Hum Genet. 1972 Nov; 24(6 Pt 1): 646–666.
PMCID:
PMC1762287
SummaryPage BrowsePDF–2.4M
11.
Diagnosis of Wilson's disease: an experience over three decades
P Gow, R Smallwood, P Angus, A Smith, A Wall, R Sewell
Gut. 2000 Mar; 46(3): 415–419. doi: 10.1136/gut.46.3.415
PMCID:
PMC1727845
SummaryPDF–107K
12.
Caeruloplasmin isoforms in Wilson's disease in neonates
G Chowrimootoo, H Scowcroft, C. Seymour
Arch Dis Child Fetal Neonatal Ed. 1998 Nov; 79(3): F198–F201. doi: 10.1136/fn.79.3.f198
PMCID:
PMC1720864
SummaryPDF–91K
13.
Eight closely linked loci place the Wilson disease locus within 13q14-q21
A. M. Bowcock, L. A. Farrer, J. M. Hebert, M. Agger, I. Sternlieb, I. H. Scheinberg, C. H. C. M. Buys, H. Scheffer, M. Frydman, T. Chajek-Saul, B. Bonne-Tamir, L. L. Cavalli-Sforza
Am J Hum Genet. 1988 Nov; 43(5): 664–674.
PMCID:
PMC1715529
SummaryPage BrowsePDF–1.3M
14.
Linkage of the Wilson disease gene to chromosome 13 in North-American pedigrees.
V Yuzbasiyan-Gurkan, G J Brewer, E Boerwinkle, P J Venta
Am J Hum Genet. 1988 Jun; 42(6): 825–829.
PMCID:
PMC1715195
SummaryPage BrowsePDF–734K
15.
Wilson's disease in adults with cirrhosis but no neurological abnormalities.
D M Danks, G Metz, R Sewell, E J Prewett
BMJ. 1990 Aug 11; 301(6747): 331–332. doi: 10.1136/bmj.301.6747.331
PMCID:
PMC1663627
SummaryPage BrowsePDF–441K
16.
Evaluation of segregation ratio in Wilson's disease.
T Saito
J Med Genet. 1983 Aug; 20(4): 271–275. doi: 10.1136/jmg.20.4.271
PMCID:
PMC1049118
SummaryPage BrowsePDF–784K
17.
Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.
A Figus, R Lampis, M Devoto, M S Ristaldi, A Ideo, S de Virgilis, A M Nurchi, A Corrias, R Corda, M E Lai, et al.
J Med Genet. 1989 Feb; 26(2): 78–82. doi: 10.1136/jmg.26.2.78
PMCID:
PMC1015554
SummaryPage BrowsePDF–631K
18.
Molecular studies of ceruloplasmin deficiency in Wilson's disease.
M J Czaja, F R Weiner, S J Schwarzenberg, I Sternlieb, I H Scheinberg, D H Van Thiel, N F LaRusso, M A Giambrone, R Kirschner, M L Koschinsky, et al.
J Clin Invest. 1987 Oct; 80(4): 1200–1204. doi: 10.1172/JCI113180
PMCID:
PMC442366
SummaryPage BrowsePDF–965K
19.
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.
M Frydman, B Bonné-Tamir, L A Farrer, P M Conneally, A Magazanik, S Ashbel, Z Goldwitch
Proc Natl Acad Sci U S A. 1985 Mar; 82(6): 1819–1821. doi: 10.1073/pnas.82.6.1819
PMCID:
PMC397364
SummaryPage BrowsePDF–526K
20.
Ceruloplasmin in Wilson's Disease
Neil A. Holtzman, Michael A. Naughton, Frank L. Iber, Bonnie M. Gaumnitz
J Clin Invest. 1967 Jun; 46(6): 993–1002. doi: 10.1172/JCI105606
PMCID:
PMC297104
SummaryPage BrowsePDF–2.7M

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