Jean-Jacques Cassiman

Overview

Best Publications

• Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

  C. Castellani;H. Cuppens;M. Macek;J. J. Cassiman

  822
  Citations

• Developmental changes in heparan sulfate expression: in situ detection with mAbs.

  G. David;Xiao Mei Bai;B. Van Der Schueren;J.-J. Cassiman

  672
  Citations

• 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

  555
  Citations

• Factor VIII gene inversions in severe hemophilia A: results of an international consortium study

  S. E. Antonarakis;J. P. Rossiter;M. Young;J. Horst

  455
  Citations

• 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

  403
  Citations

• Predominance of Beta-Catenin Mutations and Beta-Catenin Dysregulation in Sporadic Aggressive Fibromatosis (Desmoid Tumor)

  Sabine Tejpar;Friedel Nollet;Catherine Li;Jay S Wunder

  386
  Citations

• Cell surface heparan sulfate proteoglycans from human vascular endothelial cells. Core protein characterization and antithrombin III binding properties.

  G Mertens;J J Cassiman;H Van den Berghe;J Vermylen

  344
  Citations

• Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers

  Pascal Borry;Loes Stultiëns;Herman Nys;Jean-Jacques Cassiman

  285
  Citations

• Primary amines inhibit recycling of α2M receptors in fibroblasts

  Freddy Van Leuven;Jean-Jacques Cassiman;Herman Van den Berghe

  283
  Citations

• Quadriceps and Grip Strength Are Related to Vitamin D Receptor Genotype in Elderly Nonobese Women

  Piet Geusens;Caroline Vandevyver;Johan Vanhoof;Jean-Jacques Cassiman

  255
  Citations

• 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

  232
  Citations

• Established cell lines used in cystic fibrosis research.

  D C Gruenert;D C Gruenert;M Willems;Jean-Jacques Cassiman;R A Frizzell

  230
  Citations

• TP53 mutations are frequent in malignant NFI tumors

  Eric Legius;Herman Dierick;Rina Wu;Bryan K. Hall

  223
  Citations

• The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions

  Anne Vankeerberghen;Harry Cuppens;Jean Jacques Cassiman

  223
  Citations

• Molecular cloning of amphiglycan, a novel integral membrane heparan sulfate proteoglycan expressed by epithelial and fibroblastic cells.

  G David;B van der Schueren;P Marynen;J J Cassiman

  219
  Citations

• 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

  204
  Citations

• 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

  161
  Citations

• Influence of the Vitamin D Receptor Gene Alleles on Bone Mineral Density in Postmenopausal and Osteoporotic Women

  Caroline Vandevyver;Tine Wylin;Jean-Jacques Cassiman;Jef Raus

  161
  Citations

• CFTR mutations and polymorphisms in male infertility.

  Harry Cuppens;Jean-Jacques Cassiman

  152
  Citations

• Multiple distinct membrane heparan sulfate proteoglycans in human lung fibroblasts.

  V Lories;J J Cassiman;H Van den Berghe;G David

  151
  Citations