18 results on '"Claes, Charlotte"'
Search Results
2. Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy
- Author
-
Luyckx, Ilse, MacCarrick, Gretchen, Kempers, Marlies, Meester, Josephina, Geryl, Céline, Rombouts, Olivier, Peeters, Nils, Claes, Charlotte, Boeckx, Nele, Sakalihasan, Natzi, Jacquinet, Adeline, Hoischen, Alexander, Vandeweyer, Geert, Van Lent, Sarah, Saenen, Johan, Van Craenenbroeck, Emeline, Timmermans, Janneke, Duijnhouwer, Anthonie, Dietz, Harry, Van Laer, Lut, Loeys, Bart, and Verstraeten, Aline
- Published
- 2019
- Full Text
- View/download PDF
3. Aan werk sleutelen en laten sleutelen: de sleutel tot succes. Syllabus voor de #TopAdviseur
- Author
-
Moens, Bart, Moro, Marcelle Sonia, and Claes, charlotte
- Abstract
status: Published online
- Published
- 2023
4. Using an online tool to support job crafting behavior among workers with disabilities: An exploratory study.
- Author
-
Moens, Bart, Claes, Charlotte, and Peersman, Wim
- Subjects
- *
WORKERS' compensation , *DISABILITY studies , *EMPLOYABILITY , *JOB satisfaction , *TELECOMMUNICATION , *COMMUNICATION of technical information - Abstract
This study examined the impact of the JOS app, a new tailored web-based job crafting intervention tool that aims to make job crafting more accessible to workers with disabilities. The JOS app has been developed as a self-guided online tool that stimulates and facilitates job crafting through micro-interventions (i.e. without intensive contact with a trainer or coach, but through online communication technology). We expected that the intervention would have a positive impact on participants' job crafting behaviors. In addition, we expected a positive influence of the intervention on their job satisfaction and perceived employability. A pre-and post-intervention study without control group was conducted. The 5-week intervention includes brief job crafting exercises to reflect upon themselves (e.g. abilities, energy eaters and givers) and their work, the fit between those two, and to think about possible job crafting strategies to improve this fit. Using the JOS app has led to more job crafting behavior among participants. Scores on both job satisfaction and perceived employability remained virtually unchanged. This is consistent with previous suggestions that proactive behavior might not have any effects at all, or even negative ones, in the near term, but positive effects in the long term. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
5. Kan een online tool personen met een handicap ondersteunen bij het kunnen, durven en willen job craften? Evaluatieonderzoek in kader van het ESF-project ‘Disability Inclusive Job Crafting’
- Author
-
Claes, Charlotte, Moens, Bart, and Peersman, Wim
- Abstract
status: published
- Published
- 2022
6. Clinical characterization of the first Belgian SCN5A founder mutation cohort
- Author
-
Sieliwonczyk, Ewa, primary, Alaerts, Maaike, additional, Robyns, Tomas, additional, Schepers, Dorien, additional, Claes, Charlotte, additional, Corveleyn, Anniek, additional, Willems, Rik, additional, Van Craenenbroeck, Emeline M, additional, Simons, Eline, additional, Nijak, Aleksandra, additional, Vandendriessche, Bert, additional, Mortier, Geert, additional, Vrints, Christiaan, additional, Koopman, Pieter, additional, Heidbuchel, Hein, additional, Van Laer, Lut, additional, Saenen, Johan, additional, and Loeys, Bart, additional
- Published
- 2020
- Full Text
- View/download PDF
7. A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing
- Author
-
Schrauwen, Isabelle, Sommen, Manou, Corneveaux, Jason J., Reiman, Rebecca A., Hackett, Nicole J., Claes, Charlotte, Claes, Kathleen, Bitner-Glindzicz, Maria, Coucke, Paul, Van Camp, Guy, and Huentelman, Matthew J.
- Published
- 2013
- Full Text
- View/download PDF
8. COL1A1 association and otosclerosis: A meta-analysis
- Author
-
Schrauwen, Isabelle, Khalfallah, Ayda, Ealy, Megan, Fransen, Erik, Claes, Charlotte, Huber, Alex, Murillo, Laura Rodriguez, Masmoudi, Saber, Smith, Richard J.H., and Van Camp, Guy
- Published
- 2012
- Full Text
- View/download PDF
9. Clinical characterization of the first Belgian SCN5A founder mutation cohort.
- Author
-
Sieliwonczyk, Ewa, Alaerts, Maaike, Robyns, Tomas, Schepers, Dorien, Claes, Charlotte, Corveleyn, Anniek, Willems, Rik, Craenenbroeck, Emeline M Van, Simons, Eline, Nijak, Aleksandra, Vandendriessche, Bert, Mortier, Geert, Vrints, Christiaan, Koopman, Pieter, Heidbuchel, Hein, Laer, Lut Van, Saenen, Johan, Loeys, Bart, Van Craenenbroeck, Emeline M, and Van Laer, Lut
- Subjects
GENETIC mutation ,BRUGADA syndrome ,MEMBRANE transport proteins ,ELECTROCARDIOGRAPHY ,PHENOTYPES - Abstract
Aims: We identified the first Belgian SCN5A founder mutation, c.4813 + 3_4813 + 6dupGGGT. To describe the clinical spectrum and disease severity associated with this mutation, clinical data of 101 SCN5A founder mutation carriers and 46 non-mutation carrying family members from 25 Belgian families were collected.Methods and Results: The SCN5A founder mutation was confirmed by haplotype analysis. The clinical history and electrocardiographic parameters of the mutation carriers and their family members were gathered and compared. A cardiac electrical abnormality was observed in the majority (82%) of the mutation carriers. Cardiac conduction defects, defined as PR or QRS prolongation on electrocardiogram (ECG), were most frequent, occurring in 65% of the mutation carriers. Brugada syndrome (BrS) was the second most prevalent phenotype identified in 52%, followed by atrial dysrythmia in 11%. Overall, 33% of tested mutation carriers had a normal sodium channel blocker test. Negative tests were more common in family members distantly related to the proband. Overall, 23% of the mutation carriers were symptomatic, with 8% displaying major adverse events. As many as 13% of the patients tested with a sodium blocker developed ventricular arrhythmia. One family member who did not carry the founder mutation was diagnosed with BrS.Conclusion: The high prevalence of symptoms and sensitivity to sodium channel blockers in our founder population highlights the adverse effect of the founder mutation on cardiac conduction. The large phenotypical heterogeneity, variable penetrance, and even non-segregation suggest that other genetic (and environmental) factors modify the disease expression, severity, and outcome in these families. [ABSTRACT FROM AUTHOR]- Published
- 2021
- Full Text
- View/download PDF
10. Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in belgian families
- Author
-
Van Cauwenbergh, Caroline, Van Camp, Guy, Depasse, Fanny, Casteels, Ingele, de Ravel, Thomy, Leroy, Bart B.P., De Baere, Elfride, Coppieters, Frauke, Roels, Dimitri, De Jaegere, Sarah, Flipts, Helena, De Zaeytijd, Julie, Walraedt, Sophie, Claes, Charlotte, Fransen, Erik, Van Cauwenbergh, Caroline, Van Camp, Guy, Depasse, Fanny, Casteels, Ingele, de Ravel, Thomy, Leroy, Bart B.P., De Baere, Elfride, Coppieters, Frauke, Roels, Dimitri, De Jaegere, Sarah, Flipts, Helena, De Zaeytijd, Julie, Walraedt, Sophie, Claes, Charlotte, and Fransen, Erik
- Abstract
Purpose: Autosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases. Here 86 Belgian probands with possible adRP underwent genetic testing to unravel the molecular basis and to assess the contribution of the genes underlying their condition. Methods: Mutation detection methods evolved over the past ten years, including mutation specific methods (APEX chip analysis), linkage analysis, gene panel analysis (Sanger sequencing, targeted next-generation sequencing or whole exome sequencing), high-resolution copy number screening (customized microarray-based comparative genomic hybridization). Identified variants were classified following American College of Medical Genetics and Genomics (ACMG) recommendations. Results: Molecular genetic screening revealed mutations in 48/86 cases (56%). In total, 17 novel pathogenic mutations were identified: four missense mutations in RHO, five frameshift mutations in RP1, six mutations in genes encoding spliceosome components (SNRNP200, PRPF8, and PRPF31), one frameshift mutation in PRPH2, and one frameshift mutation in TOPORS. The proportion of RHO mutations in our cohort (14%) is higher than reported in a French adRP population (10.3%), but lower than reported elsewhere (16.5±30%). The prevalence of RP1 mutations (10.5%) is comparable to other populations (3.5%-10%). The mutation frequency in genes encoding splicing factors is unexpectedly high (altogether 19.8%), with PRPF31 the second most prevalent mutated gene (10.5%). PRPH2 mutations were found in 4.7% of the Belgian cohort. Two families (2.3%) have the recurrent NR2E3 mutation p.(Gly56Arg). The prevalence of the recurrent PROM1 mutation p.(Arg373Cys) was higher than anticipated (3.5%). Conclusions: Overall, we identified mutations in 48 of 86 Belgian adRP cases (56%), with the highest prevalence in RHO (14%), RP1 (10.5%) and PRPF31 (10.5%). Finally, we expanded the molecular sp, SCOPUS: ar.j, info:eu-repo/semantics/published
- Published
- 2017
11. Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections
- Author
-
Ogunjimi, Benson, primary, Zhang, Shen-Ying, additional, Sørensen, Katrine B., additional, Skipper, Kristian A., additional, Carter-Timofte, Madalina, additional, Kerner, Gaspard, additional, Luecke, Stefanie, additional, Prabakaran, Thaneas, additional, Cai, Yujia, additional, Meester, Josephina, additional, Bartholomeus, Esther, additional, Bolar, Nikhita Ajit, additional, Vandeweyer, Geert, additional, Claes, Charlotte, additional, Sillis, Yasmine, additional, Lorenzo, Lazaro, additional, Fiorenza, Raffaele A., additional, Boucherit, Soraya, additional, Dielman, Charlotte, additional, Heynderickx, Steven, additional, Elias, George, additional, Kurotova, Andrea, additional, Auwera, Ann Vander, additional, Verstraete, Lieve, additional, Lagae, Lieven, additional, Verhelst, Helene, additional, Jansen, Anna, additional, Ramet, Jose, additional, Suls, Arvid, additional, Smits, Evelien, additional, Ceulemans, Berten, additional, Van Laer, Lut, additional, Plat Wilson, Genevieve, additional, Kreth, Jonas, additional, Picard, Capucine, additional, Von Bernuth, Horst, additional, Fluss, Joël, additional, Chabrier, Stephane, additional, Abel, Laurent, additional, Mortier, Geert, additional, Fribourg, Sebastien, additional, Mikkelsen, Jacob Giehm, additional, Casanova, Jean-Laurent, additional, Paludan, Søren R., additional, and Mogensen, Trine H., additional
- Published
- 2017
- Full Text
- View/download PDF
12. Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
- Author
-
Van Cauwenbergh, Caroline, primary, Coppieters, Frauke, additional, Roels, Dimitri, additional, De Jaegere, Sarah, additional, Flipts, Helena, additional, De Zaeytijd, Julie, additional, Walraedt, Sophie, additional, Claes, Charlotte, additional, Fransen, Erik, additional, Van Camp, Guy, additional, Depasse, Fanny, additional, Casteels, Ingele, additional, de Ravel, Thomy, additional, Leroy, Bart P., additional, and De Baere, Elfride, additional
- Published
- 2017
- Full Text
- View/download PDF
13. Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome
- Author
-
Schrauwen, Isabelle, Sommen, Manou, Claes, Charlotte, Pinner, J., Flaherty, M., Collins, F., and Van Camp, Guy
- Subjects
Human medicine ,eye diseases - Abstract
Two siblings, from a consanguineous Iraqi family, were investigated to identify the underlying genetic cause of their high myopia, esotropia, vitreous changes and cataract. Subsequent investigation identified low molecular weight proteinuria as part of their syndrome. Exome sequencing of one of the probands revealed a new non-synonymous variant in the LRP2 gene. Sanger sequencing confirmed the mutation and segregation in the family. No mutation was identified in COL9A1/2, COL11A1/2, or COL2A1 genes. The variant (c.11483A>G; p.Asp3828Gly) is predicted to be damaging and is conserved among vertebrate species. Mutations in LRP2 have been shown to cause the Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with facial dysmorphism, ocular anomalies, sensorineural hearing loss, low molecular weight proteinuria, and diaphragmatic hernia and absent corpus callosum, although there is variability in the expression of some features. This family shows a milder phenotype with a predominant eye phenotype similar to the Stickler syndrome and only a few features of the DBS, including microglobulinuria. The presence of microglobulinuria was only detected after molecular results were known. In conclusion, with the identification of a new mutation in LRP2 associated with a predominant eye phenotype similar to the Stickler syndrome, we have broadened the phenotypic spectrum of LRP2 mutations.
- Published
- 2014
14. Confirmation of the role of pathogenic SMAD6variants in bicuspid aortic valve-related aortopathy
- Author
-
Luyckx, Ilse, MacCarrick, Gretchen, Kempers, Marlies, Meester, Josephina, Geryl, Céline, Rombouts, Olivier, Peeters, Nils, Claes, Charlotte, Boeckx, Nele, Sakalihasan, Natzi, Jacquinet, Adeline, Hoischen, Alexander, Vandeweyer, Geert, Van Lent, Sarah, Saenen, Johan, Van Craenenbroeck, Emeline, Timmermans, Janneke, Duijnhouwer, Anthonie, Dietz, Harry, Van Laer, Lut, Loeys, Bart, and Verstraeten, Aline
- Abstract
Progressive dilatation of the thoracic aorta leads to thoracic aortic aneurysm (TAA), which is often asymptomatic but predisposes to lethal aortic dissections and ruptures. TAA is a common complication in patients with bicuspid aortic valve (BAV). Recently, rare loss-of-function SMAD6variants were shown to contribute significantly to the genetic aetiology of BAV/TAA. Intriguingly, patients with craniosynostosis have also been reported to be explained molecularly by similar loss-of-function SMAD6variants. While significantly reduced penetrance of craniosynostosis has been reported for the SMAD6variants as such, near-complete penetrance is reached upon co-occurrence with a common BMP2SNP risk allele. Here, we report on the results of a SMAD6-variant analysis in 473 unrelated non-syndromic TAA patients, of which the SMAD6-positive individuals were also studied for the presence of the BMP2risk allele. Although only 14% of the TAA patients also presented BAV, all novel likely pathogenic SMAD6variants (N= 7) were identified in BAV/TAA individuals, further establishing the role of SMAD6variants to the aetiology of BAV/TAA and revealing limited contribution to TAA development in patients with a tricuspid aortic valve. Familial segregation studies confirmed reduced penetrance (82%) and variable clinical expressivity, with coarctation of the aorta being a common comorbidity. None of our six BMP2+/SMAD6+ patients presented with craniosynostosis. Hence, the proposed digenic model for craniosynostosis was not supported in the presented BAV/TAA cohort, suggesting that additional factors are at play. Finally, our data provide improved insights into the clinical spectrum of SMAD6-related BAV/TAA and has important implications for molecular diagnostics.
- Published
- 2019
- Full Text
- View/download PDF
15. A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR‐based approach and next generation sequencing
- Author
-
Schrauwen, Isabelle, primary, Sommen, Manou, additional, Corneveaux, Jason J., additional, Reiman, Rebecca A., additional, Hackett, Nicole J., additional, Claes, Charlotte, additional, Claes, Kathleen, additional, Bitner‐Glindzicz, Maria, additional, Coucke, Paul, additional, Van Camp, Guy, additional, and Huentelman, Matthew J., additional
- Published
- 2012
- Full Text
- View/download PDF
16. A Mutation in CABP2 , Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
- Author
-
Schrauwen, Isabelle, primary, Helfmann, Sarah, additional, Inagaki, Akira, additional, Predoehl, Friederike, additional, Tabatabaiefar, Mohammad Amin, additional, Picher, Maria Magdalena, additional, Sommen, Manou, additional, Zazo Seco, Celia, additional, Oostrik, Jaap, additional, Kremer, Hannie, additional, Dheedene, Annelies, additional, Claes, Charlotte, additional, Fransen, Erik, additional, Chaleshtori, Morteza Hashemzadeh, additional, Coucke, Paul, additional, Lee, Amy, additional, Moser, Tobias, additional, and Van Camp, Guy, additional
- Published
- 2012
- Full Text
- View/download PDF
17. Clinical characterization of the first Belgian SCN5A founder mutation cohort
- Author
-
Pieter Koopman, Maaike Alaerts, Bart Loeys, Hein Heidbuchel, Ewa Sieliwonczyk, Bert Vandendriessche, Anniek Corveleyn, Charlotte Claes, Aleksandra Nijak, Lut Van Laer, Christiaan J. Vrints, Geert Mortier, Eline Simons, Johan Saenen, Rik Willems, Emeline M. Van Craenenbroeck, Dorien Schepers, Tomas Robyns, Robyns, Tomas/0000-0002-8676-4874, Willems, Rik/0000-0002-5469-9609, Sieliwonczyk, Ewa/0000-0002-8603-7044, Koopman, Pieter/0000-0002-6373-180X, Sieliwonczyk, Ewa, Alaerts, Maaike, Robyns, Tomas, Schepers, Dorien, Claes, Charlotte, Corveleyn, Anniek, Willems, Rik, Van Craenenbroeck, Emeline M., Simons, Eline, Nijak, Aleksandra, Vandendriessche, Bert, Mortier, Geert, Vrints, Christiaan, KOOPMAN, Pieter, HEIDBUCHEL, Hein, Van Laer, Lut, Saenen, Johan, and Loeys, Bart
- Subjects
Proband ,medicine.medical_specialty ,conduction defects ,Atrial dysrhythmia ,030204 cardiovascular system & hematology ,Sudden death ,NAV1.5 Voltage-Gated Sodium Channel ,Electrocardiography ,03 medical and health sciences ,0302 clinical medicine ,Belgium ,Physiology (medical) ,Internal medicine ,Brugada syndrome ,SCN5A ,Founder mutation ,Cardiac ,Cardiac conduction ,medicine ,Humans ,cardiovascular diseases ,Biology ,Brugada Syndrome ,030304 developmental biology ,0303 health sciences ,business.industry ,Haplotype ,medicine.disease ,Penetrance ,3. Good health ,Phenotype ,Mutation ,Mutation (genetic algorithm) ,cardiovascular system ,Human medicine ,Cardiology and Cardiovascular Medicine ,business ,Founder effect - Abstract
Aims We identified the first Belgian SCN5A founder mutation, c.4813 + 3_4813 + 6dupGGGT. To describe the clinical spectrum and disease severity associated with this mutation, clinical data of 101 SCN5A founder mutation carriers and 46 non-mutation carrying family members from 25 Belgian families were collected. Methods and results The SCN5A founder mutation was confirmed by haplotype analysis. The clinical history and electrocardiographic parameters of the mutation carriers and their family members were gathered and compared. A cardiac electrical abnormality was observed in the majority (82%) of the mutation carriers. Cardiac conduction defects, defined as PR or QRS prolongation on electrocardiogram (ECG), were most frequent, occurring in 65% of the mutation carriers. Brugada syndrome (BrS) was the second most prevalent phenotype identified in 52%, followed by atrial dysrythmia in 11%. Overall, 33% of tested mutation carriers had a normal sodium channel blocker test. Negative tests were more common in family members distantly related to the proband. Overall, 23% of the mutation carriers were symptomatic, with 8% displaying major adverse events. As many as 13% of the patients tested with a sodium blocker developed ventricular arrhythmia. One family member who did not carry the founder mutation was diagnosed with BrS. Conclusion The high prevalence of symptoms and sensitivity to sodium channel blockers in our founder population highlights the adverse effect of the founder mutation on cardiac conduction. The large phenotypical heterogeneity, variable penetrance, and even non-segregation suggest that other genetic (and environmental) factors modify the disease expression, severity, and outcome in these families.
- Published
- 2020
18. Clinical characterization of the first Belgian SCN5A founder mutation cohort.
- Author
-
Sieliwonczyk E, Alaerts M, Robyns T, Schepers D, Claes C, Corveleyn A, Willems R, Van Craenenbroeck EM, Simons E, Nijak A, Vandendriessche B, Mortier G, Vrints C, Koopman P, Heidbuchel H, Van Laer L, Saenen J, and Loeys B
- Subjects
- Belgium epidemiology, Electrocardiography, Humans, Mutation, Phenotype, Brugada Syndrome, NAV1.5 Voltage-Gated Sodium Channel genetics
- Abstract
Aims: We identified the first Belgian SCN5A founder mutation, c.4813 + 3_4813 + 6dupGGGT. To describe the clinical spectrum and disease severity associated with this mutation, clinical data of 101 SCN5A founder mutation carriers and 46 non-mutation carrying family members from 25 Belgian families were collected., Methods and Results: The SCN5A founder mutation was confirmed by haplotype analysis. The clinical history and electrocardiographic parameters of the mutation carriers and their family members were gathered and compared. A cardiac electrical abnormality was observed in the majority (82%) of the mutation carriers. Cardiac conduction defects, defined as PR or QRS prolongation on electrocardiogram (ECG), were most frequent, occurring in 65% of the mutation carriers. Brugada syndrome (BrS) was the second most prevalent phenotype identified in 52%, followed by atrial dysrythmia in 11%. Overall, 33% of tested mutation carriers had a normal sodium channel blocker test. Negative tests were more common in family members distantly related to the proband. Overall, 23% of the mutation carriers were symptomatic, with 8% displaying major adverse events. As many as 13% of the patients tested with a sodium blocker developed ventricular arrhythmia. One family member who did not carry the founder mutation was diagnosed with BrS., Conclusion: The high prevalence of symptoms and sensitivity to sodium channel blockers in our founder population highlights the adverse effect of the founder mutation on cardiac conduction. The large phenotypical heterogeneity, variable penetrance, and even non-segregation suggest that other genetic (and environmental) factors modify the disease expression, severity, and outcome in these families., (Published on behalf of the European Society of Cardiology. All rights reserved. © The Author(s) 2020. For permissions, please email: journals.permissions@oup.com.)
- Published
- 2021
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.