P. J. Willems
University of California, San Diego
8 Papers
214 Citations
P. J. Willems is an academic researcher from University of California, San Diego. The author has contributed to research in topics: Fucosidosis & Restriction fragment length polymorphism. The author has an hindex of 7, co-authored 8 publications. Previous affiliations of P. J. Willems include University of Antwerp.
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Papers
Fmrl Knockout Mice: A Model to Study Fragile X Mental Retardation The Dutch-Belgian Fragile X Consortium*
Cathy E. Bakker,C. Verheij,Rob Willemsen,Robert van der Helm,Frank Oerlemans,M. Vermey,Anne E. Bygrave,André T. Hoogeveen,Ben A. Oostra,Edwin Reyniers,Kristel De Boule,Rudi D'Hooge,Patrick Cras,Désiré van Velzen,Guy Nagels,Jean-Jacques Martin,Peter Paul De Deyn,John K. Darby,P. J. Willems +18 more
- 01 Jan 1994
110
•Journal Article
Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.
P. J. Willems,John K. Darby,R. A. DiCioccio,P. Nakashima,Charis Eng,Keith A. Kretz,L. L. Cavalli-Sforza,E. M. Shooter,John S. O'Brien +8 more
TL;DR: Southern blot analysis of the structural gene encoding alpha-L-fucosidase (FUCA 1) in 23 patients affected with fucosodosis suggests that at least two different mutations are involved in fucOSidosis.
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Intrafamilial variability in fucosidosis.
P. J. Willems,P. J. Willems,C A Garcia,Maryse De Smedt,R Martin-Jimenez,John K. Darby,D A Duenas,D Granado-Villar,John S. O'Brien +8 more
TL;DR: Two families with five patients affected with fucosidosis are described and it is suggested that environmental factors or “modifying genes” different from the fucsidase structural gene contribute to the phenotype of a fucOSidosis patient.
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Molecular biology of the alpha-L-fucosidase gene and fucosidosis.
John S. O'Brien,P. J. Willems,H. Fukushima,de Wet,John K. Darby,Di Cioccio R,M.L. Fowler,Shows Tb +7 more
- 01 Jan 1987
TL;DR: The availability of these cDNA clones has enabled us to map the structural gene for alpha-L-fucosidase to chromosome 1p34.1-1p36.1 by Southern blot analysis of DNA from human-rodent somatic cell hybrids and by in situ hybridization.
23
•Journal Article
Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis.
John K. Darby,P. J. Willems,P. Nakashima,J Johnsen,R E Ferrell,E M Wijsman,D S Gerhard,Nicholas C. Dracopoli,David E. Housman,J Henke +9 more
TL;DR: The combined lod score for linkage between the fucosidosis mutation and FUCA 1 markers in two families was significant at a recombination fraction of 0.01, suggesting that the fukosidotic mutation resides in FU CA 1.
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