H. Cuppens

发表

Recommendations for the classification of diseases as CFTR-related disorders.

B. Kerem, J. Zieleński, P. Pignatti, 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

The Interlaboratory RObustness of Next-generation sequencing (IRON) study: a deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories

A. Kohlmann, T. Haferlach, G. Martinelli, 2011, Leukemia.

High Accuracy Mutation Detection in Leukemia on a Selected Panel of Cancer Genes

Stein Aerts, Vanessa Brys, Jan Cools, 2012, PloS one.

Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations.

P. Pignatti, M. Macek, G. Castaldo, 2005, Genomics.

Differential induction of human beta-defensin expression by periodontal commensals and pathogens in periodontal pocket epithelial cells.

M. Quirynen, J. Cassiman, H. Cuppens, 2005, Journal of periodontology.

Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype

M. Macek, R. Vlietinck, K. De Boeck, 2005, Thorax.

Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype

M. Macek, R. Vlietinck, K. De Boeck, 2004, Journal of Medical Genetics.

The Kalimantacin Polyketide Antibiotics Inhibit Fatty Acid Biosynthesis in Staphylococcus aureus by Targeting the Enoyl‐Acyl Carrier Protein Binding Site of FabI

P. Herdewijn, Simone Kosol, Michiel Vanmeert, 2020, Angewandte Chemie.

The kalimantacin polyketide antibiotics inhibit fatty acid biosynthesis in Staphylococcus aureus by targeting the enoyl-acyl carrier protein binding site of FabI.

P. Herdewijn, Simone Kosol, Michiel Vanmeert, 2020, Angewandte Chemie.

Genomic copy number determines functional expression of {beta}-defensin 2 in airway epithelial cells and associates with chronic obstructive pulmonary disease.

M. Decramer, K. Nackaerts, D. Lambrechts, 2010, American journal of respiratory and critical care medicine.

The 15q24/25 susceptibility variant for lung cancer and chronic obstructive pulmonary disease is associated with emphysema.

Marc Decramer, Wim Janssens, Johan Coolen, 2010, American journal of respiratory and critical care medicine.

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

P. Marynen, J. Fryns, T. Glover, 1995, Journal of medical genetics.

The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.

K. De Boeck, H. Cuppens, L. Viviani, 2014, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients

E. Decaestecker, K. De Boeck, H. Cuppens, 2004, European Respiratory Journal.

Inhibition of volume‐regulated anion channels by expression of the cystic fibrosis transmembrane conductance regulator

R. Vennekens, B. Nilius, T. Voets, 1999, The Journal of physiology.

New clinical diagnostic procedures for cystic fibrosis in Europe.

N. Derichs, F. Vermeulen, I. Fajac, 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Localization of the gene encoding the α2 subunit of the human VLA-2 receptor to chromosome 5q23-31

P. Marynen, J. Cassiman, H. Cuppens, 1991 .

CFTR haplotype backgrounds on normal and mutant CFTR genes.

H. Cuppens, P. Raeymaekers, C. De Boeck, 1994, Human molecular genetics.

Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.

H. Ishiguro, M. Amaral, P. Sosnay, 2017, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure

L. Dupont, M. Boon, A. Smits, 2014, Orphanet Journal of Rare Diseases.

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

A. Avital, H. Omran, I. Amirav, 2014, Nature Communications.

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re‐evaluated full ADSL coding sequence

E. Legius, J. Cassiman, J. Jaeken, 1999, Human mutation.

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

P. Stenson, D. Cooper, N. Chuzhanova, 2010, Human mutation.

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

P. Pignatti, D. Cooper, R. Williamson, 2006, European Journal of Human Genetics.

The C-terminal part of the R-domain, but not the PDZ binding motif, of CFTR is involved in interaction with Ca2+-activated Cl– channels

B. Nilius, G. Droogmans, J. Cassiman, 2001, Pflügers Archiv.

Interaction between calcium-activated chloride channels and the cystic fibrosis transmembrane conductance regulator

B. Nilius, G. Droogmans, J. Cassiman, 1999, Pflügers Archiv.

Functional interaction between TRP4 and CFTR in mouse aorta endothelial cells

M. Freichel, V. Flockerzi, B. Nilius, 2001, BMC Physiology.

Functional characterization of the CFTR R domain using CFTR/MDR1 hybrid and deletion constructs.

B. Nilius, H. Cuppens, M. Jaspers, 1999, Biochemistry.

Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association

S. Amselem, M. Boon, S. Christin‐Maitre, 2017, European Respiratory Journal.

Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

L. Koulischer, A. Azad, V. Bours, 2009, Chest.

Cystic Fibrosis-Like Symptoms Genetic Analysis of Rwandan Patients With

L. Koulischer, A. Azad, J. Cassiman, 2009 .

Co‐amplification of the cystic fibrosis ΔF508 mutation with the HLA DQA1 sequence in single cell PCR: Implications for improved assessment of polar bodies and blastomeres in preimplantation diagnosis

P. Marynen, R. Decorte, R. Wu, 1993, Prenatal diagnosis.

Is there evidence for correct diagnosis in cystic fibrosis registries?

C. Castellani, F. Vermeulen, K. De Boeck, 2014, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Is neonatale screening op mucoviscidose aangewezen in België

P. Lebecque, M. Neyt, M. Proesmans, 2010 .

Art meets science: The Cosmopolitan Chicken Research Project

P. van As, H. Cuppens, A. Stinckens, 2015, Facts, views & vision in ObGyn.

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

J. Cassiman, H. Cuppens, A. Vankeerberghen, 2002, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Genotype-phenotype correlations for the paranasal sinuses in cystic fibrosis.

K. De Boeck, H. Cuppens, M. Jorissen, 1999, American journal of respiratory and critical care medicine.

Consensus on the Use and Interpretation of Cystic Fibrosis Mutation Analysis in Clinical Practice

B. Kerem, J. Zieleński, P. Pignatti, 2022 .

Rapid DNA typing of class II HLA antigens using the polymerase chain reaction and reverse dot blot hybridization.

P. Marynen, R. Decorte, J. Cassiman, 1993, Tissue antigens.

Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia

T. Wienker, T. Becker, M. Macek, 2010, Journal of Medical Genetics.

A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition

J. Dötsch, H. Sticht, H. Cuppens, 2010, The Journal of physiology.

Identification of seven rather infrequent and one novel CFTR mutation in the Belgian population.

H. Cuppens, C. De Boeck, J. Cassiman, 1994, Human Molecular Genetics.

Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis

X. Estivill, E. Dequeker, M. Schwartz, 2000, European Journal of Human Genetics.

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

X. Estivill, J. Zieleński, T. Dörk, 2000, Human Genetics.

Morphological changes in the vas deferens and expression of the cystic fibrosis transmembrane conductance regulator (CFTR) in control, ΔF508 and knock‐out CFTR mice during postnatal life

J. Cassiman, B. Scholte, H. Cuppens, 2000, Molecular reproduction and development.

Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells.

H. V. Van Poppel, E. Legius, H. Cuppens, 1997, Human molecular genetics.

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Manfred Stuhrmann, Milan Macek, Teresa Casals, 2009, European Journal of Human Genetics.

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.

M. Goossens, B. Nilius, G. Droogmans, 1998, The Journal of clinical investigation.

Ion channel regulators for the treatment of cystic fibrosis

H. Cuppens, C. Boeck, 2011 .

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide

Milan Macek, Charles R. Scriver, Sjozef van Baal, 2006, Nucleic Acids Res..

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

P. Marynen, J. Cassiman, H. Berghe, 1990, Journal of medical genetics.

Rapid detection of hypervariable regions by the polymerase chain reaction technique.

P. Marynen, R. Decorte, J. Cassiman, 1990, DNA and cell biology.

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

X. Estivill, K. Klinger, B. Kerem, 1992, Human Genetics.

Gradient of distribution in Europe of the major CF mutation and of its associated haplotype

H. Cuppens, 2006, Human Genetics.

Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.

J. Cassiman, H. Cuppens, M. Zamani, 2008, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Cystic fibrosis: terminology and diagnostic algorithms

K De Boeck, C Castellani, C. Castellani, 2005, Thorax.

European Epidemiologic Registry of Cystic Fibrosis (ERCF): Comparison of major disease manifestations between patients with different classes of mutations

B. Strandvik, M. Hodson, J. Navarro, 2001, Pediatric pulmonology.

Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

B. Nilius, H. Cuppens, M. Jaspers, 1998, Human molecular genetics.

Capacitance measurements reveal different pathways for the activation of CFTR

J. Cassiman, H. Cuppens, W. van Driessche, 1999, Pflügers Archiv.

Accurate determination of copy number variations (CNVs): application to the alpha- and beta-defensin CNVs.

K. Nackaerts, J. Vermeesch, S. Vermeire, 2009, Journal of immunological methods.

Functional analysis of CFTR chloride channel activity in cells with elevated MDR1 expression.

Lishuang Cao, B. Nilius, J. Cassiman, 2003, Biochemical and biophysical research communications.

Association between XV2c/CS7/KM19/D9 haplotypes and the ΔF508 mutation A study of 57 Belgian families

P. Marynen, R. Decorte, J. Fryns, 1990, Human Genetics.

Benchmarks for cystic fibrosis carrier screening: a European consensus document.

Milan Macek, Bruno Dallapiccola, Pier Franco Pignatti, 2010, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

The TNFα receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis

D. Ussery, T. Wienker, T. Becker, 2006, Human Genetics.

Functional Characterization of a Partial Loss-of-Function Mutation of the Epithelial Sodium Channel (ENaC) Associated with Atypical Cystic Fibrosis

A. Azad, P. Gmeiner, H. Cuppens, 2009, Cellular Physiology and Biochemistry.

Mutations in the amiloride‐sensitive epithelial sodium channel in patients with cystic fibrosis‐like disease

P. Lebecque, A. Azad, M. Schwartz, 2009, Human mutation.

The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation

Z. Ignatova, A. Ramalho, L. Dupont, 2020, Life.

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.

P. Marynen, J. Cassiman, H. Cuppens, 1993, Genomics.

CFTR mutations and polymorphisms in male infertility.

J. Cassiman, H. Cuppens, 2004, International journal of andrology.

Genes that determine immunology and inﬂammation modify the basic defect of impaired ion conductance in cystic ﬁbrosis epithelia

T. Wienker, T. Becker, M. Macek, 2022 .

The molecular genetic epidemiology of cystic fibrosis: Report of a joint meeting of WHO/ECFTN/ICF(M)A/ECFS

J. Zieleński, S. Kabra, P. Pignatti, 2004 .

Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children.

P. Lebecque, J. Cassiman, H. Cuppens, 2002, American journal of respiratory and critical care medicine.

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

X. Estivill, T. Dörk, C. Clavel, 2001, Journal of medical genetics.

Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot.

P. Marynen, H. Cuppens, I. Buyse, 1992, Molecular and cellular probes.

Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis.

C. Verfaillie, M. Ferrante, A. Ramalho, 2022, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Limited Expansion of the (CAG)n Repeat of the Huntington Gene: A Premutation (?)

P. Marynen, K. Demyttenaere, R. Dom, 1994, European journal of human genetics : EJHG.

Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis.

P. Rutgeerts, S. Vermeire, T. Roskams, 2009, Journal of hepatology.

Characterization of mutations located in exon 18 of the CFTR gene

B. Nilius, J. Cassiman, H. Cuppens, 1998, FEBS letters.

algorithmsfibrosis: terminology and diagnostic

C. Castellani, J. Dodge, M. Wilschanski, 2008 .

Interaction of the protein phosphatase 2A with the regulatory domain of the cystic fibrosis transmembrane conductance regulator channel

Lishuang Cao, V. Janssens, J. Goris, 2005, FEBS letters.

A novel model for the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator

J. Annereau, B. Tümmler, J. Cassiman, 1997, FEBS letters.

Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing.

J. Vermeesch, L. Dehaspe, G. Matthijs, 2012, The Journal of molecular diagnostics : JMD.

Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)

M. Schwarz, H. Cuppens, A. Haworth, 1998, Human mutation.

Phosphorylation site independent single R‐domain mutations affect CFTR channel activity

B. Nilius, G. Droogmans, J. Cassiman, 1998, FEBS letters.

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

X. Estivill, T. Dörk, C. Clavel, 2001 .

Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population.

P. Marynen, H. Cuppens, J. Cassiman, 1992, Human molecular genetics.

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

X. Estivill, T. Dörk, C. Clavel, 2001, Journal of Medical Genetics.

Solid phase fluorescent sequencing of the CFTR gene.

H. Cuppens, J. Cassiman, 2001, Methods in molecular biology.

Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR

B. Nilius, J. Cassiman, H. Cuppens, 2000, FEBS letters.

A Quality Control Study of CFTR Mutation Screening in 40 Different European Laboratories

J. Cassiman, H. Cuppens, 1995, European journal of human genetics : EJHG.

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

B. Kerem, J. Zieleński, P. Pignatti, 2008, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Genes that determine immunology and inﬂammation modify the basic defect of impaired ion conductance in cystic ﬁbrosis epithelia

T. Wienker, F. Stanke, B. Tümmler, 2022 .

Recommendations for the classification of diseases as CFTR-related disorders.

B. Kerem, J. Zieleński, P. Pignatti, 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

New clinical diagnostic procedures for cystic fibrosis in Europe.

N. Derichs, F. Vermeulen, P. Melotti, 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Accurate determination of copy number variations (CNVs): application to the alpha- and beta-defensin CNVs.

K. Nackaerts, J. Vermeesch, S. Vermeire, 2009, Journal of immunological methods.

An Algerian child homozygous for the M470V polymorphism and for a deletion of two nucleotides in exon 10 of the CFTR gene, shows severe cystic fibrosis symptoms.

P. Marynen, H. Cuppens, R. Bakour, 1992, Genetic counseling.