Jean-Jacque Cassiman
Personal Home Page
http://www.eurogentest.org/web/files/public/JJCCV.pdf
Articles in Scholarly Journals [Incomplete List]
- Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations
Journal of Cystic Fibrosis, vol. 7, no. 2, pp. 102–109, 2008 - Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
Journal of Cystic Fibrosis, vol. 7, no. 3, pp. 179–196, 2008 - TGF-β modulates β-Catenin stability and signaling in mesenchymal proliferations
Experimental Cell Research, vol. 313, no. 13, pp. 2887–2895, 2007 - ZIC1 gene expression is controlled by DNA and histone methylation in mesenchymal proliferations
FEBS Letters, vol. 581, no. 26, pp. 5122–5126, 2007 - Identification and sequence analysis of discordant phenotypes between AmpFlSTR SGM Plus™ and PowerPlex® 16
International Journal of Legal Medicine, vol. 121, no. 4, pp. 297–301, 2007 - Upregulation of Wilms’ tumour gene 1 (WT1) in uterine sarcomas
European Journal of Cancer, vol. 43, no. 10, pp. 1630–1637, 2007 - Recommendations of the 2006 Human Variome Project meeting
Nature Genetics, vol. 39, no. 4, Article ID ng2024, 3 pages, 2007 - Cystic Fibrosis Is Associated with a Defect in Apical Receptor-Mediated Endocytosis in Mouse and Human Kidney
Journal of the American Society of Nephrology, vol. 18, no. 3, pp. 707–718, 2007 - Allele Frequency Data for 19 Short Tandem Repeats (PowerPlexR 16 and FFFl) in a Belgian Population Sample
Journal of Forensic Sciences, vol. 51, no. 2, pp. 436–437, 2006 - Epigenetics: a major cause of variations on the same theme
Journal of Cellular and Molecular Medicine, vol. 10, no. 3, pp. 552–553, 2006 - Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers
Clinical Genetics, vol. 70, no. 5, pp. 374–381, 2006 - The TNFα receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis
Human Genetics, vol. 119, no. 3, pp. 331–343, 2006 - Evaluation of methodology for the isolation and analysis of LCN-DNA before and after dactyloscopic enhancement of fingerprints
International Congress Series, vol. 1288, pp. 583–585, 2006 - Y-chromosomal STR haplotypes in a Belgian population sample and identification of a micro-variant with a flanking site mutation at DYS19
Forensic Science International, vol. 152, no. 1, pp. 89–94, 2005 - Distribution of human ?-defensin polymorphisms in various control and cystic fibrosis populations
Genomics, vol. 85, no. 5, pp. 574–581, 2005 - Interaction of the protein phosphatase 2A with the regulatory domain of the cystic fibrosis transmembrane conductance regulator channel
FEBS Letters, vol. 579, no. 16, pp. 3392–3396, 2005 - Upregulation of Wilms' tumor gene 1 (WT1) in desmoid tumors
International Journal of Cancer, vol. 114, no. 2, pp. 202–208, 2005 - Commentary
Acta Paediatrica, vol. 94, no. 0, pp. 79–79, 2005 - Research network: EuroGentest – a European Network of Excellence aimed at harmonizing genetic testing services
European Journal of Human Genetics, vol. 13, no. 10, Article ID 5201484, 2 pages, 2005 - Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype
Thorax, vol. 60, no. 4, pp. 320–325, 2005 - Differential Induction of Human Beta-Defensin Expression by Periodontal Commensals and Pathogens in Periodontal Pocket Epithelial Cells
Journal of Periodontology, vol. 76, no. 8, pp. 1293–1303, 2005 - Influence of Nicotine and Cotinine on Epithelial Colonization by Periodontopathogens
Journal of Periodontology, vol. 76, no. 8, pp. 1315–1322, 2005 - CFTR mutations and polymorphisms in male infertility
International Journal of Andrology, vol. 27, no. 5, pp. 251–256, 2004 - Identification of IGFBP-6 as a significantly downregulated gene by β-catenin in desmoid tumors
Oncogene, vol. 23, no. 3, Article ID 1207160, 10 pages, 2004 - Invasion and MMP expression profile in desmoid tumours
British Journal of Cancer, vol. 90, no. 7, Article ID 6601661, 6 pages, 2004 - Towards quality assurance and harmonization of genetic testing services in the European Union
Nature Biotechnology, vol. 22, no. 10, Article ID nbt1004-1230, 5 pages, 2004 - Belgian population data for 15 STR loci (AmpFlSTR® SGM Plus and AmpFlSTR™ profiler PCR amplification kit)
Forensic Science International, vol. 139, no. 2-3, pp. 211–213, 2004 - The use of cells from cystic fibrosis patients in research*1A model consent form
Journal of Cystic Fibrosis, vol. 3, no. 3, pp. 197–200, 2004 - Established cell lines used in cystic fibrosis research
Journal of Cystic Fibrosis, vol. 3, pp. 191–196, 2004 - Preface
Journal of Cystic Fibrosis, vol. 3, p. 1, 2004 - Functional analysis of CFTR chloride channel activity in cells with elevated MDR1 expression
Biochemical and Biophysical Research Communications, vol. 304, no. 2, pp. 248–252, 2003 - Adhesion of Porphyromonas gingivalis to cultured pocket epithelium: mono- and multi-layered
Clinical Oral Investigations, vol. 7, no. 3, pp. 162–166, 2003 - Data storage and DNA banking for biomedical research: technical, social and ethical issues
European Journal of Human Genetics, vol. 11, no. 12, Article ID 5201107, 2 pages, 2003 - Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective
European Journal of Human Genetics, vol. 11, Article ID 5201114, 2003 - Adhesion of Porphyromonas gingivalis. Serotypes to Pocket Epithelium
Journal of Periodontology, vol. 74, no. 6, pp. 844–848, 2003 - The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions
Journal of Cystic Fibrosis, vol. 1, no. 1, pp. 13–29, 2002 - Viability of cultured periodontal pocket epithelium cells and Porphyromonas gingivalis association
Journal of Clinical Periodontology, vol. 29, no. 11, pp. 987–996, 2002 - Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD)
European Journal of Human Genetics, vol. 10, no. 9, pp. 505–510, 2002 - Tcf-3 expression and β -catenin mediated transcriptional activation in aggressive fibromatosis (desmoid tumour)
British Journal of Cancer, vol. 85, no. 1, pp. 98–101, 2001 - Linkage and association of HLA class II genes with vitiligo in a Dutch population
British Journal of Dermatology, vol. 145, no. 1, pp. 90–94, 2001 - Y-chromosomal STR haplotypes in three major population groups in Bulgaria
Forensic Science International, vol. 124, no. 2-3, pp. 182–186, 2001 - Different activation mechanisms of cystic fibrosis transmembrane conductance regulator expressed in Xenopus laevis oocytes
Comparative Biochemistry and Physiology - Part A: Molecular & Integrative Physiology, vol. 130, no. 3, pp. 521–531, 2001 - Mitochondrial DNA analysis of the putative heart of Louis XVII, son of Louis XVI and Marie-Antoinette
European Journal of Human Genetics, vol. 9, no. 3, Article ID 5200602, 5 pages, 2001 - Adhesion of Porphyromonas gingivalis Strains to Cultured Epithelial Cells From Patients With a History of Chronic Adult Periodontitis or From Patients Less Susceptible to Periodontitis
Journal of Periodontology, vol. 72, no. 5, pp. 626–633, 2001 - BMC Physiology, vol. 1, no. 1, p. 1, 2001
- BMC Physiology, vol. 1, no. 1, p. 3, 2001
- Pitfalls in the analysis of mitochondrial DNA from ancient specimens and the consequences for forensic DNA analysis: the historical case of the putative heart of Louis XVII
International Journal of Legal Medicine, vol. 115, no. 3, pp. 135–141, 2001 - Functional integrity of the vesicle transporting machinery is required for complete activation of CFTR expressed in Xenopus laevis oocytes
Pfl�gers Archiv European Journal of Physiology, vol. 441, no. 6, pp. 850–859, 2001 - The C-terminal part of the R-domain, but not the PDZ binding motif, of CFTR is involved in interaction with Ca 2+ -activated Cl - channels
Pfl�gers Archiv European Journal of Physiology, vol. 442, no. 2, pp. 280–285, 2001 - Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR
FEBS Letters, vol. 473, no. 2, pp. 149–153, 2000 - Morphological changes in the vas deferens and expression of the cystic fibrosis transmembrane conductance regulator (CFTR) in control, ?F508 and knock-outCFTR mice during postnatal life
Molecular Reproduction and Development, vol. 55, no. 2, pp. 125–135, 2000 - Novel syndromic form of X-linked complicated spastic paraplegia
American Journal of Medical Genetics, vol. 94, no. 1, pp. 1–4, 2000 - Primary role of the HLA class II DRB1*0301 allele in graves disease
American Journal of Medical Genetics, vol. 95, no. 5, pp. 432–437, 2000 - Nature Genetics, vol. 25, no. 3, pp. 259–260, 2000
- Biochemistry, vol. 38, no. 45, pp. 14988–14998, 1999
- Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
European Journal of Human Genetics, vol. 7, no. 5, Article ID 5200337, 3 pages, 1999 - Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor)
Oncogene, vol. 18, no. 47, pp. 6615–6620, 1999 - Inhibition of volume-regulated anion channels by expression of the cystic fibrosis transmembrane conductance regulator
The Journal of Physiology, vol. 515, no. 1, pp. 75–85, 1999 - Lack of Association Between Estrogen Receptor Genotypes and Bone Mineral Density, Fracture History, or Muscle Strength in Elderly Women
Journal of Bone and Mineral Research, vol. 14, no. 9, pp. 1576–1582, 1999 - Comparison of Fluorescence Microscopy and Culture Assays to Quantitate Adhesion of Porphyromonas gingivalis to Mono- and Multi-Layered Pocket Epithelium Cultures
Journal of Periodontology, vol. 70, no. 6, pp. 618–625, 1999 - Multi-Layered Periodontal Pocket Epithelium Reconstituted In Vitro: Histology and Cytokeratin Profiles
Journal of Periodontology, vol. 70, no. 6, pp. 668–678, 1999 - Hemochromatose: een vaak miskende ziekte
Tijdschrift voor Geneeskunde, vol. 55, no. 11, pp. 826–839, 1999 - Klonen of gekloond worden: realiteit bij het proefdier
Tijdschrift voor Geneeskunde, vol. 55, no. 17, pp. 1187–1194, 1999 - Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence
Human Mutation, vol. 13, no. 3, pp. 197–202, 1999 - Regional localization of a gene for nonspecific XLMR to Xp11.3-p11.23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1
American Journal of Medical Genetics, vol. 85, no. 3, pp. 283–287, 1999 - Epistatic effects of genes encoding tumor necrosis factor-α, immunoglobulin allotypes, and HLA antigens on susceptibility to non-insulin-dependent (type 2) diabetes mellitus
Immunogenetics, vol. 49, no. 10, pp. 860–864, 1999 - Capacitance measurements reveal different pathways for the activation of CFTR
Pfl�gers Archiv European Journal of Physiology, vol. 438, no. 4, pp. 561–569, 1999 - Interaction between calcium-activated chloride channels and the cystic fibrosis transmembrane conductance regulator
Pfl�gers Archiv European Journal of Physiology, vol. 438, no. 5, pp. 635–641, 1999 - Genetic data obtained for two Chinese Han populations with a quadruplex fluorescent STR typing system (HUMVWA, HUMTH01, D21S11 and HPRT)
International Journal of Legal Medicine, vol. 111, no. 6, pp. 343–345, 1998 - Characterization of mutations located in exon 18 of the CFTR gene
FEBS Letters, vol. 437, no. 1-2, pp. 1–4, 1998 - Phosphorylation site independent single R-domain mutations affect CFTR channel activity
FEBS Letters, vol. 439, no. 1-2, pp. 121–126, 1998 - Increased sensitivity of fibroblasts from amyotrophic lateral sclerosis patients to oxidative stress
Annals of Neurology, vol. 43, no. 4, pp. 452–457, 1998 - FISH identifies inv(16)(p13q22) masked by translocations in three cases of acute myeloid leukemia
Genes, Chromosomes and Cancer, vol. 22, no. 2, pp. 87–94, 1998 - Reevaluation of the importance of polymorphic HLA class II alleles and amino acids in the susceptibility of individuals of different populations to type I diabetes
American Journal of Medical Genetics, vol. 76, no. 2, pp. 183–194, 1998 - Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene
Human Mutation, vol. 11, no. 6, pp. 470–479, 1998 - 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.
Journal of Clinical Investigation, vol. 101, no. 2, pp. 487–496, 1998 - Microdeleties op het Y-chromosoom als oorzaak van mannelijke onvruchtbaarheid
Tijdschrift voor Geneeskunde, vol. 54, no. 4, pp. 243–246, 1998 - Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A
The American Journal of Human Genetics, vol. 62, no. 3, pp. 542–550, 1998 - Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator
Human Molecular Genetics, vol. 7, no. 11, pp. 1761–1769, 1998 - Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene
Human Molecular Genetics, vol. 7, no. 2, pp. 157–164, 1998 - Evaluation of a decontamination protocol for hair shafts before mtDNA sequencing
Forensic Science International, vol. 94, no. 1-2, pp. 65–71, 1998 - Quadruplex fluorescent STR typing system (HUMVWA, HUMTH01, D21S11 and HPRT) with sequence-defined allelic ladders Identification of a new allele at D21S11
Forensic Science International, vol. 94, no. 1-2, pp. 39–46, 1998 - del(7q) in chronic B-cell lymphoid malignancies
Cancer Genetics and Cytogenetics, vol. 93, no. 2, pp. 147–151, 1997 - Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
Nature Genetics, vol. 16, no. 1, Article ID ng0597-88, 4 pages, 1997 - Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells
Human Molecular Genetics, vol. 6, no. 1, pp. 85–90, 1997 - Quadriceps and Grip Strength Are Related to Vitamin D Receptor Genotype in Elderly Nonobese Women
Journal of Bone and Mineral Research, vol. 12, no. 12, pp. 2082–2088, 1997 - Influence of the Vitamin D Receptor Gene Alleles on Bone Mineral Density in Postmenopausal and Osteoporotic Women
Journal of Bone and Mineral Research, vol. 12, no. 2, pp. 241–247, 1997 - Risk perception after CF carrier testing and impact of the test result on reproductive decision making
American Journal of Medical Genetics, vol. 69, no. 4, pp. 422–428, 1997 - Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3–p22.2 (MRX49) and Xp11.3–p11.21 (MRX50)
American Journal of Medical Genetics, vol. 73, no. 4, pp. 474–479, 1997 - Philadelphia-like translocation t(9;22)(q34;q11) found in a follicular lymphoma involving notBCR andABL butIGL-mediated rearrangement of an unknown gene on 9q34
Genes, Chromosomes and Cancer, vol. 20, no. 2, pp. 113–119, 1997 - FISH identifies different types of duplications with 12q13-15 as the commonly involved segment in B-cell lymphoproliferative malignancies characterized by partial trisomy 12
Genes, Chromosomes and Cancer, vol. 20, no. 2, pp. 155–166, 1997 - The X-linked infantile spasms syndrome (Mim 308350) maps to Xp 11.4-Xpter in two pedigrees
Annals of Neurology, vol. 42, no. 3, pp. 360–364, 1997 - PMM (PMM1), the Human Homologue ofSEC53or Yeast Phosphomannomutase, Is Localized on Chromosome 22q13
Genomics, vol. 40, no. 1, pp. 41–47, 1997 - A chromosome 18 genetic linkage study in three large Belgian pedigrees with bipolar disorder
Journal of Affective Disorders, vol. 43, no. 3, pp. 195–205, 1997 - A novel model for the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator
FEBS Letters, vol. 407, no. 3, pp. 303–308, 1997 - Linkage of type I diabetes to 15q26 (IDDM3) in the Danish population
Human Genetics, vol. 98, no. 4, pp. 491–496, 1996 - Evidence for Genetic Heterogeneity in the Carbohydrate-Deficient Glycoprotein Syndrome Type I (CDG1)
Genomics, vol. 35, no. 3, pp. 597–599, 1996 - Clinical and molecular genetic features of congenital spinal muscular atrophy
Annals of Neurology, vol. 40, no. 5, pp. 731–738, 1996 - Evaluation of the ALF DNA sequencer for high-speed sizing of short tandem repeat alleles
Electrophoresis, vol. 17, no. 10, pp. 1542–1549, 1996 - BCL3 rearrangement and t(14;19)(q32;q13) in lymphoproliferative disorders
Genes, Chromosomes and Cancer, vol. 15, no. 1, pp. 38–47, 1996 - Linkage analysis in three families with nonspecific X-linked mental retardation
American Journal of Medical Genetics, vol. 64, no. 1, pp. 137–146, 1996 - BCL-6 EXPRESSION IN REACTIVE LYMPHOID TISSUE AND IN B-CELL NON-HODGKIN'S LYMPHOMAS
The Journal of Pathology, vol. 179, no. 2, pp. 145–150, 1996 - Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome
Human Mutation, vol. 8, no. 1, pp. 51–56, 1996 - Translocation t(8;16)(p11;p13) in Acute Non-Lymphocytic Leukemia: Report on Two New Cases and Review of the Literature
Leukemia and Lymphoma, vol. 21, no. 1, pp. 137–142, 1996 - Trisomy 3 in marginal zone B-cell lymphoma: a study based on cytogenetic analysis and fluorescence in situ hybridization
British Journal of Haematology, vol. 93, no. 1, pp. 242–249, 1996 - Cytogenetic and clinicobiological features of acute leukemia with stem cell phenotype: Study of nine cases
Cancer Genetics and Cytogenetics, vol. 92, no. 1, pp. 31–36, 1996 - Localization of alpha4m integrin at sites of mesenchyme condensation during embryonic mouse development
Differentiation, vol. 59, no. 2, pp. 79–86, 1995 - Trisomy 3 is a consistent chromosome change in malignant lymphoproliferative disorders preceded by cold agglutinin disease
British Journal of Haematology, vol. 91, no. 2, pp. 421–424, 1995 - Mantle cell lymphoma: a clinicopathological study of 55 cases
Histopathology, vol. 26, no. 1, pp. 17–24, 1995 - Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.
Journal of Clinical Investigation, vol. 95, no. 4, pp. 1832–1837, 1995 - Fluorescence in situ hybridization identifies new chromosomal changes involving 3q27 in non-Hodgkin's lymphomas withBCL6/LAZ3 rearrangement
Genes, Chromosomes and Cancer, vol. 14, no. 1, pp. 1–7, 1995 - A Regulatory Element in the 5′UTR Directs Cell-Specific Expression of the Mouse α4 Gene
Biochemical and Biophysical Research Communications, vol. 211, no. 1, pp. 115–122, 1995 - Structure and Chromosomal Localization of the Human Gene of the Phosphotyrosyl Phosphatase Activator (PTPA) of Protein Phosphatase 2A
Genomics, vol. 28, no. 2, pp. 261–272, 1995 - A Radiation Hybrid Map with 60 Loci Covering the Entire Short Arm of Chromosome 12
Genomics, vol. 29, no. 1, pp. 170–178, 1995 - Trisomy 12 does not correlate with EBV infection in chronic B-cell leukemias
Cancer Genetics and Cytogenetics, vol. 82, no. 1, pp. 80–81, 1995 - Importance of HLA-DRB1 and DQA1 genes and of the amino acid polymorphisms in the functional domain of DRβ1 chain in multiple sclerosis
Journal of Neuroimmunology, vol. 59, no. 1-2, pp. 77–82, 1995 - Molecular breakpoints of t(11;14)(q13;q32) in multiple myeloma
Cancer Genetics and Cytogenetics, vol. 83, no. 1, pp. 25–27, 1995 - Appearance of localized immunoreactivity for the α4 integrin subunit and for fibronectin in brains from Alzheimer's, Lewy body dementia patients and aged controls
Neuroscience Letters, vol. 170, no. 1, pp. 71–73, 1994 - “Jumping” translocation of 9q in a case of follicular lymphoma
Cancer Genetics and Cytogenetics, vol. 76, no. 2, pp. 140–144, 1994 - HLA and T-cell receptor polymorphisms in Belgian multiple sclerosis patients: No evidence for disease association with the T-cell receptor
Journal of Neuroimmunology, vol. 52, no. 1, pp. 25–32, 1994 - Myelin basic protein gene polymorphism is not associated with chronic progressive multiple sclerosis
Journal of Neuroimmunology, vol. 52, no. 1, pp. 97–99, 1994 - TAP 1 and TAP 2 transporter gene polymorphisms in multiple sclerosis: No evidence for disease association with TAP
Journal of Neuroimmunology, vol. 54, no. 1-2, pp. 35–40, 1994 - Assignment of the Gene for the Human Proliferating Cell Nucleolar Protein P120 (NOL1) to Chromosome 12p13 by Fluorescence in Situ Hybridization and Polymerase Chain Reaction with Somatic Cell Hybrids
Genomics, vol. 21, no. 1, pp. 296–297, 1994 - Association of particular HLA class II alleles, haplotypes and genotypes with susceptibility to IDDM in the Belgian population
Diabetologia, vol. 37, no. 8, pp. 808–817, 1994 - Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an alport patient deletes the NC1 domain
Pediatric Nephrology, vol. 8, no. 3, pp. 382–382, 1994 - t(1;19) without detectableE2A rearrangements in two t(14; 18)-positive lymphoma/leukemia cases
Genes, Chromosomes and Cancer, vol. 10, no. 3, pp. 171–176, 1994 - TP53 mutations are frequent in malignant NFI tumors
Genes, Chromosomes and Cancer, vol. 10, no. 4, pp. 250–255, 1994 - Mosaic expression of hypohidrotic ectodermal dysplasia in an isolated affected female child
Archives of Dermatology, vol. 130, no. 11, pp. 1421–1424, 1994 - Study of the possible association of HLA class II, CD4, and CD3 polymorphisms with schizophrenia
American Journal of Medical Genetics, vol. 54, no. 4, pp. 372–377, 1994