Search Results - Claire‐Marie Dhaenens

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  1. 1
    Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy

    Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy by Marie‐Laure Caillet‐Boudin, Francisco-José Fernández-Gómez, Hélène Tran, Claire‐Marie Dhaenens, Luc Buée, Nicolas Sergeant

    Published 2014
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  2. 2
    Tau as a Biomarker of Neurodegenerative Diseases

    Tau as a Biomarker of Neurodegenerative Diseases by Susanna Schraen‐Maschke, Nicolas Sergeant, Claire‐Marie Dhaenens, Stéphanie Bombois, Vincent Deramecourt, Marie‐Laure Caillet‐Boudin, Florence Pasquier, Claude‐Alain Maurage, Bernard Sablonnière, Eugeen Vanmechelen, Luc Buée

    Published 2008
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  3. 3
    Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection

    Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection by Victor Fages, Florentin Bourre, Romain Larrue, Andrea Wenzel, Jean‐Baptiste Gibier, Fabrice Bonte, Claire‐Marie Dhaenens, Kendrah Kidd, Stanislav Kmoch, Anthony J. Bleyer, François Glowacki, Olivier Grunewald

    Published 2024
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  4. 4
    Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity

    Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity by Stéphanie S. Cornelis, Esmee H. Runhart, Miriam Bauwens, Zelia Corradi, Elfride De Baere, Susanne Roosing, Lonneke Haer‐Wigman, Claire‐Marie Dhaenens, Anneke T. Vulto‐van Silfhout, Frans P.M. Cremers

    Published 2022
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  5. 5
    Test–Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial

    Test–Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial by Maria A. Parker, Dongseok Choi, Laura Erker, Mark E. Pennesi, Paul Yang, Elvira N. Chegarnov, Peter Steinkamp, Catherine L. Schlechter, Claire‐Marie Dhaenens, Saddek Mohand‐Saïd, Isabelle Audo, José‐Alain Sahel, Richard G. Weleber, David J. Wilson

    Published 2016
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  6. 6
    Cost‐effective molecular inversion probe‐based <i>ABCA4</i> sequencing reveals deep‐intronic variants in Stargardt disease

    Cost‐effective molecular inversion probe‐based <i>ABCA4</i> sequencing reveals deep‐intronic variants in Stargardt disease by Mubeen Khan, Stéphanie S. Cornelis, Muhammad Imran Khan, Duaa Elmelik, Eline Manders, Sem Bakker, Ronny Derks, Kornelia Neveling, Maartje van de Vorst, Christian Gilissen, Isabelle Meunier, Sabine Defoort, Bernard Puech, Aurore Devos, H.L. Schulz, Heidi Stöhr, Felix Graßmann, Bernhard H. F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers

    Published 2019
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  7. 7
    Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing

    Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing by Claire‐Marie Dhaenens, Hélène Tran, Marie‐Lise Frandemiche, C Carpentier, Susanna Schraen‐Maschke, Andone Sistiaga, María Goicoechea, Sabiha Eddarkaoui, Edwige Van Brussels, Hélène Obriot, A. Labudeck, M.H Gevaert, Francisco-José Fernández-Gómez, Nicolas Charlet‐Berguerand, Vincent Deramecourt, Claude‐Alain Maurage, Luc Buée, Adolfo López de Munaín, Bernard Sablonnière, Marie‐Laure Caillet‐Boudin, Nicolas Sergeant

    Published 2011
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  8. 8
    Analysis of Exonic Regions Involved in Nuclear Localization, Splicing Activity, and Dimerization of Muscleblind-like-1 Isoforms

    Analysis of Exonic Regions Involved in Nuclear Localization, Splicing Activity, and Dimerization of Muscleblind-like-1 Isoforms by Hélène Tran, Nathalie Gourrier, Camille Lemercier-Neuillet, Claire‐Marie Dhaenens, Audrey Vautrin, Francisco-José Fernández-Gómez, Ludovic Arandel, Céline Carpentier, Hélène Obriot, Sabiha Eddarkaoui, Lucie Delattre, Edwige Van Brussels, Ian Holt, Glenn E. Morris, Bernard Sablonnière, Luc Buée, Nicolas Charlet‐Berguerand, Susanna Schraen‐Maschke, Denis Furling, Isabelle Behm‐Ansmant, Christiane Branlant, Marie‐Laure Caillet‐Boudin, Nicolas Sergeant

    Published 2011
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  9. 9
    Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

    Mutations in IMPG1 Cause Vitelliform Macular Dystrophies by Gaël Manès, Isabelle Meunier, Almudena Ávila‐Fernández, Sandro Banfi, Guylène Le Meur, Xavier Zanlonghi, Marta Cortón, Francesca Simonelli, Philippe Brabet, Gilles Labesse, Isabelle Audo, Saddek Mohand‐Saïd, Christina Zeitz, José‐Alain Sahel, Michel Weber, Hélène Dollfus, Claire‐Marie Dhaenens, Delphine Allorge, Elfride De Baere, Robert K. Koenekoop, Susanne Kohl, Frans P.M. Cremers, Joe G. Hollyfield, Audrey Sénéćhal, Maxime Hebrard, Béatrice Bocquet, Carmen Ayuso, Christian P. Hamel

    Published 2013
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  10. 10
    Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

    Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides by Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H. Runhart, Miriam Bauwens, Nathalie M. Bax, L. Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S. Cornelis, Joanne Verheij, Jan-Willem R. Pott, Alberta A. H. J. Thiadens, Caroline C. W. Klaver, Bernard Puech, Isabelle Meunier, Sarah Naessens, Gavin Arno, Ana Fakin, Keren Carss, F. Lucy Raymond, Andrew R. Webster, Claire‐Marie Dhaenens, Heidi Stöhr, Felix Graßmann, Bernhard H. F. Weber, Carel B. Hoyng, Elfride De Baere, Sílvia Albert, Rob W.J. Collin, Frans P.M. Cremers

    Published 2019
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  11. 11
    Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

    Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders by Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, Claude Jardel, Annabelle Chaussenot, Claire Hoarau, Hassani Maoulida, Nathanaël Charrier, Xiaowu Gai, Hongbo Xie, Marc Ferré, Konstantina Fragaki, G. Hardy, Bénédicte Mousson de Camaret, Sandrine Marlin, Claire Marie Dhaenens, Abdelhamid Slama, Christophe Rocher, Jean‐Paul Bonnefont, Agnès Rötig, Nadia Aoutil, Martine Gilleron, Valérie Desquiret‐Dumas, Pascal Reynier, Jennifer Ceresuela, Laurence Jonard, Aurore Devos, Caroline Espil‐Taris, Delphine Martinez, Pauline Gaignard, Kim‐Hanh Le Quan Sang, Patrizia Amati‐Bonneau, Marni J. Falk, Catherine Florentz, B. Chabrol, Isabelle Durand‐Zaleski, Véronique Paquis‐Flucklinger

    Published 2013
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  12. 12
    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes by Rebekkah J. Hitti‐Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire‐Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben‐Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Lišková, Ľubica Ďuďáková, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeiņa, Gita Tauriņa, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P.M. Cremers

    Published 2024
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  13. 13
    Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

    Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics by Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTabishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben‐Yosef, Camiel J. F. Boon, L. Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Ľubica Ďuďáková, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru Fujinami, Christian Gilissen, Damjan Glavač, Michael B. Gorin, Jacquie Greenberg, Takaaki Hayashi, Ymkje M. Hettinga, Alexander Hoischen, Carel B. Hoyng, Karsten Hufendiek, Herbert Jägle, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C. W. Klaver, Bohdan Kousal, Tina M. Lamey, Ian M. MacDonald, Anna Matynia, Terri L. McLaren, Marcela Mena, Isabelle Meunier, Rianne Miller, Hadas Newman, Buhle Ntozini, Monika Ołdak, Marc Pieterse, Osvaldo L. Podhajcer, Bernard Puech, Raj Ramesar, Klaus Rüther, Manar Salameh, Mariana Vallim Salles, Dror Sharon, Francesca Simonelli, Georg Spital, Marloes Steehouwer, Jacek P. Szaflik, Jennifer A. Thompson, C. Thuillier, Anna M. Tracewska, Martine van Zweeden, Andrea L. Vincent, Xavier Zanlonghi, Petra Lišková, Heidi Stöhr, John N. De Roach, Carmen Ayuso, Lisa Roberts, Bernhard H. F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers

    Published 2019
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  14. 14
    Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

    Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics by Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben‐Yosef, Camiel J. F. Boon, L. Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Ľubica Ďuďáková, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru Fujinami, Christian Gilissen, Damjan Glavač, Michael B. Gorin, Jacquie Greenberg, Takaaki Hayashi, Ymkje M. Hettinga, Alexander Hoischen, Carel B. Hoyng, Karsten Hufendiek, Herbert Jägle, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C. W. Klaver, Bohdan Kousal, Tina M. Lamey, Ian M. MacDonald, Anna Matynia, Terri L. McLaren, Marcela Mena, Isabelle Meunier, Rianne Miller, Hadas Newman, Buhle Ntozini, Monika Ołdak, Marc Pieterse, Osvaldo L. Podhajcer, Bernard Puech, Raj Ramesar, Klaus Rüther, Manar Salameh, Mariana Vallim Salles, Dror Sharon, Francesca Simonelli, Georg Spital, Marloes Steehouwer, Jacek P. Szaflik, Jennifer A. Thompson, C. Thuillier, Anna M. Tracewska, Martine van Zweeden, Andrea L. Vincent, Xavier Zanlonghi, Petra Lišková, Heidi Stöhr, John N. De Roach, Carmen Ayuso, Lisa Roberts, Bernhard H. F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers

    Published 2020
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  15. 15
    De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

    De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa by Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, Erica G. M. Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K. Holtes, Stephen H. Tsang, Zelia Corradi, K. Bailey Freund, Stefanida Shliaga, Daan M. Panneman, Rebekkah J. Hitti‐Malin, Manir Ali, Alaa AlTalbishi, Sten Andréasson, Georg Ansari, Gavin Arno, Galuh Astuti, Carmen Ayuso, Radha Ayyagari, Sandro Banfi, Eyal Banin, Mirella Telles Salgueiro Barboni, Miriam Bauwens, Tamar Ben‐Yosef, David G. Birch, Pooja Biswas, Fiona Blanco‐Kelly, Béatrice Bocquet, Camiel J. F. Boon, Kari Branham, Alexis Ceecee Britten‐Jones, Kinga M. Bujakowska, Elizabeth L. Cadena, Giacomo Calzetti, Francesca Cancellieri, Luca Cattaneo, Peter Charbel Issa, Naomi Chadderton, Luísa Coutinho Santos, Stephen P. Daiger, Elfride De Baere, Berta de la Cerda, John N. De Roach, Julie De Zaeytijd, Ronny Derks, Claire‐Marie Dhaenens, Ľubica Ďuďáková, Jacque L. Duncan, G. Jane Farrar, Nicolas Feltgen, Lidia Fernández‐Caballero, Juliana Maria Ferraz Sallum, Simone Gana, Alejandro Garanto, Jessica C. Gardner, Christian Gilissen, Kensuke Goto, Roser Gonzàlez‐Duarte, Sam Griffiths‐Jones, Tobias B. Haack, Lonneke Haer‐Wigman, Alison J. Hardcastle, Takaaki Hayashi, Elise Héon, Alexander Hoischen, Josephine Prener Holtan, Carel B. Hoyng, Manuel Benjamin B. Ibanez, Chris F. Inglehearn, Takeshi Iwata, Kaylie Webb-Jones, Vasiliki Kalatzis, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Krisztina Knézy, Caroline C. W. Klaver, Robert K. Koenekoop, Susanne Kohl, Taro Kominami, Laura Kuehlewein, Tina M. Lamey, Bart P. Leroy, María Pilar Martín-Gutiérrez, Nelson Martins, L. Mauring, Rina Leibu, Siying Lin, Petra Lišková, Irma López, Víctor Rodríguez, Omar A. Mahroo, Gae͏̈l Manes

    Published 2025
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