Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.
Harry Cuppens;Wei Lin;Martine Jaspers;B Costes.
Journal of Clinical Investigation (1998)
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
Gert Matthijs;E Schollen;Els Pardon;M Veiga-Da-Cunha.
Nature Genetics (1997)
Primary amines inhibit recycling of α2M receptors in fibroblasts
Freddy Van Leuven;Jean-Jacques Cassiman;Herman Van den Berghe.
Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers
Pascal Borry;Loes Stultiëns;Herman Nys;Jean-Jacques Cassiman.
Clinical Genetics (2006)
Quadriceps and Grip Strength Are Related to Vitamin D Receptor Genotype in Elderly Nonobese Women
Piet Geusens;Caroline Vandevyver;Johan Vanhoof;Jean-Jacques Cassiman.
Journal of Bone and Mineral Research (1997)
Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective.
Béatrice Godard;Béatrice Godard;Jörg Schmidtke;Jean-Jacques Cassiman;Ségolène Aymé.
European Journal of Human Genetics (2003)
Established cell lines used in cystic fibrosis research.
D C Gruenert;D C Gruenert;M Willems;Jean-Jacques Cassiman;R A Frizzell.
Journal of Cystic Fibrosis (2004)
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
Gert Matthijs;Els Schollen;Emile Van Schaftingen;Jean-Jacques Cassiman.
American Journal of Human Genetics (1998)
Non-Syndromic Deafness Associated with a Mutation and a Polymorphism in the Mitochondrial 12S Ribosomal RNA Gene in a Large Zairean Pedigree
Gert Matthijs;Stephan Claes;Benjamin Longo-Mbenza;Jean-Jacques Cassiman.
European Journal of Human Genetics (1996)
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
W. Robberecht;T. Aguirre;L. Van Den Bosch;P. Tilkin.
If you think any of the details on this page are incorrect, let us know.
We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below: