Resultados de procura - Caroline Rooryck

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  1. 1
    Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign

    Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign por Louis Domenach, Caroline Rooryck, Marine Legendre, Hanane Bouchghoul, Claire Bénéteau, Henri Margot

    Publicado 2025
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  2. 2
    Molecular characterization of a series of 990 index patients with albinism

    Molecular characterization of a series of 990 index patients with albinism por Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud, Perrine Pennamen, Aurélien Trimouille, Laëtitia Gaston, Solène Monfermé, Didier Lacombe, Caroline Rooryck, Fanny Morice‐Picard, Benoı̂t Arveiler

    Publicado 2018
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  3. 3
    A novel de novo mutation in MYT1, the unique OAVS gene identified so far

    A novel de novo mutation in MYT1, the unique OAVS gene identified so far por Marie Berenguer, Angèle Tingaud‐Sequeira, Mileny Esbravatti Stephano Colovati, Maria Isabel Melaragno, Silvia Bragagnolo, Ana Beatriz Alvarez Pérez, Benoı̂t Arveiler, Didier Lacombe, Caroline Rooryck

    Publicado 2017
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  4. 4
    Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

    Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome por Éric Bieth, Sanaa Eddiry, Véronique Gaston, F. Lorenzini, Alexandre Buffet, Françoise Auriol, Catherine Molinas, Dorothée Cailley, Caroline Rooryck, Benoı̂t Arveiler, Jérôme Cavaillé, Jean‐Pierre Salles, Maïthé Tauber

    Publicado 2014
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  5. 5
    BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus

    BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus por Sandrine Levet, Marie Ouarné, Delphine Ciais, Charles Coutton, Mariela Subileau, Christine Mallet, Nicolas Ricard, Marie Bidart, Thierry Debillon, Francesca Faravelli, Caroline Rooryck, Jean‐Jacques Feige, Emmanuelle Tillet, Sabine Bailly

    Publicado 2015
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  6. 6
    A mutation in the 3′-UTR of the <i>HDAC6</i> gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

    A mutation in the 3′-UTR of the <i>HDAC6</i> gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplas... por Delphine Simon, Benoît Laloo, Malika Barillot, Thomas Barnetche, Camille Blanchard, Caroline Rooryck, Michèle Marche, Ingrid Burgelin, Isabelle Coupry, Nicolas Chassaing, Brigitte Gilbert‐Dussardier, Didier Lacombe, Christophe F. Grosset, Benoı̂t Arveiler

    Publicado 2010
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  7. 7
    <i>FLNC</i> pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations

    <i>FLNC</i> pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations por Flavie Ader, Pascal de Groote, Patricia Réant, Caroline Rooryck, Delphine Dupin‐Deguine, Caroline Rambaud, Diala Khraiche, Claire Perret, Jean François Pruny, Michèle Mathieu‐Dramard, Marion Gérard, Yann Troadec, Laurent Gouya, Xavier Jeunemaı̂tre, Lionel Van Maldergem, Albert Hagège, Eric Villard, Philippe Charron, Pascale Richard

    Publicado 2019
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  8. 8
    CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells

    CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells por Julian Boutin, Juliette Rosier, David Cappellen, Florence Prat, Jérôme Toutain, Perrine Pennamen, Julie Bouron, Caroline Rooryck, Jean‐Philippe Merlio, Isabelle Lamrissi‐Garcia, Grégoire Cullot, Samuel Amintas, Veronique Guyonnet‐Dupérat, Cécile Ged, Jean‐Marc Blouin, Élodie Richard, Sandrine Dabernat, François Moreau‐Gaudry, Aurélie Bedel

    Publicado 2021
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  9. 9
    Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

    Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome por Paquita Nurden, Najet Debili, Isabelle Coupry, Marijke Bryckaert, Ibtissam Youlyouz‐Marfak, Guilhem Solé, Anne-Cécile Pons, Eliane Berrou, Frédéric Adam, Alexandre Kauskot, Jean‐Marie Daniel Lamazière, Philippe Rameau, Patricia Fergelot, Caroline Rooryck, Dorothée Cailley, Benoı̂t Arveiler, Didier Lacombe, William Vainchenker, Alan T. Nurden, Cyril Goizet

    Publicado 2011
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  10. 10
    CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

    CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations por Grégoire Cullot, Julian Boutin, Jérôme Toutain, Florence Prat, Perrine Pennamen, Caroline Rooryck, Martin Teichmann, Emilie Rousseau, Isabelle Lamrissi‐Garcia, Veronique Guyonnet‐Dupérat, Alice Bibeyran, Magalie Lalanne, Valérie Prouzet‐Mauléon, Béatrice Turcq, Cécile Ged, Jean‐Marc Blouin, Emmanuel Richard, Sandrine Dabernat, François Moreau‐Gaudry, Aurélie Bedel

    Publicado 2019
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  11. 11
    International Triadin Knockout Syndrome Registry

    International Triadin Knockout Syndrome Registry por Daniel J. Clemens, David J. Tester, John R. Giudicessi, J. Martijn Bos, Ram K. Rohatgi, Dominic J. Abrams, Seshadri Balaji, Lia Crotti, Julien Fauré, Carlo Napolitano, Silvia G. Priori, Vincent Probst, Caroline Rooryck, Nathalie Roux-Buisson, Frédéric Sacher, Peter J. Schwartz, Michael J. Silka, Mark Walsh, Michael J. Ackerman

    Publicado 2019
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  12. 12
    Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

    Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes por Martine Doco‐Fenzy, Camille Leroy, Anouck Schneider, Florence Petit, Marie‐Ange Delrue, Joris Andrieux, Laurence Perrin‐Sabourin, Emilie Landais, Azzedine Aboura, Jacques Puechberty, Manon Girard, Magali Tournaire, Elodie Sanchez, Caroline Rooryck, Agnès Ameil, Michel Goossens, Philippe Jonveaux, Geneviève Lefort, Laurence Taine, Dorothée Cailley, Dominique Gaillard, Bruno Leheup, Pierre Sarda, David Geneviève

    Publicado 2013
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  13. 13
    Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

    Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome por Caroline Rooryck, Anna Dı́az-Font, Daniel P. S. Osborn, Elyes Chabchoub, Víctor Hernández-Hernández, Hanan E. Shamseldin, Joanna Kenny, Aoife Waters, Dagan Jenkins, Ali Al Kaissi, Gabriela Ferraz Leal, Bruno Dallapiccola, Franco A. Carnevale, Maria Bitner‐Glindzicz, Melissa Lees, Raoul C. M. Hennekam, Philip Stanier, Alan J. Burns, Hilde Peeters, Fowzan S. Alkuraya, Philip L. Beales

    Publicado 2011
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  14. 14
    Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

    Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance por Zinan Zhang, Florian Gothe, Perrine Pennamen, John R. James, David McDonald, Carlos P. Mata, Yorgo Modis, Anas M. Alazami, Meghan Acres, Wolfram Haller, Claire Bowen, Rainer Döffinger, Jan Sinclair, Shannon Brothers, Yu Zhang, Helen Matthews, Sophie Naudion, Fanny Pelluard, Huda Alajlan, Yasuhiro Yamazaki, Luigi D. Notarangelo, James Thaventhiran, Karin R. Engelhardt, Hamoud Al‐Mousa, Sophie Hambleton, Caroline Rooryck, Kenneth G. C. Smith, Michael J. Lenardo

    Publicado 2019
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  15. 15
    Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

    Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures por Gaëlle Thierry, Claire Bénéteau, Olivier Pichon, Elisabeth Flori, Bertrand Isidor, Françoise Popelard, Marie‐Ange Delrue, Laëtitia Duboscq-Bidot, Ann‐Charlotte Thuresson, Bregje W.M. van Bon, Dorothée Cailley, Caroline Rooryck, Agathe Paubel, Corinne Métay, A. Dusser, Laurent Pasquier, Mylène Béri, Céline Bonnet, Sylvie Jaillard, Christèle Dubourg, Bassim Tou, Marie‐Pierre Quéré, Cecilia Soussi‐Zander, Annick Toutain, Didier Lacombe, Benoı̂t Arveiler, Bert B.A. de Vries, Philippe Jonveaux, Albert David, Cédric Le Caignec

    Publicado 2012
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  16. 16
    Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features

    Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features por Christel Thauvin‐Robinet, Aurore Garde, M Favier, Julian Delanne, Caroline Racine, Thierry Rousseau, Sophie Nambot, Ange‐Line Bruel, Sébastien Moutton, Chloé Quēlin, Cindy Colson, Anne‐Claire Bréhin, Anne-Marie Guerrot, Caroline Rooryck, Audrey Putoux, Patricia Blanchet, Sylvie Odent, Élise Schaefer, Odile Boute, Alice Goldenberg, Agnès Guichet, Carine Abel, Godeliève Morel, Mélanie Fradin, Bertrand Isidor, Marie Vincent, Christine Francannet, Gabriella Vera, Florence Petit, Mathilde Nizon, Constance Wells, Médéric Jeanne, Caroline Deiller, Alban Ziegler, Manon Godin, Pascale Saugier‐Veber, Kévin Cassinari, Pierre Blanc, E. Simon, Christine Binquet, Yannis Duffourd, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Antonio Vitobello, Christophe Philippe, Laurence Faivre, Frédéric Tran Mau‐Them, Nicolas Bourgon

    Publicado 2025
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  17. 17
    A framework to identify contributing genes in patients with Phelan-McDermid syndrome

    A framework to identify contributing genes in patients with Phelan-McDermid syndrome por Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloès, Séverine Drunat, Boris Keren, Cyril Mignot, Isabelle Marey, Aurélia Jacquette, Sandra Whalen, Eva Pipiras, Brigitte Benzacken, Sandra Chantot‐Bastaraud, Alexandra Afenjar, Delphine Héron, Cédric Le Caignec, Claire Bénéteau, Olivier Pichon, Bertrand Isidor, Albert David, Laïla El Khattabi, Stéphan Kemeny, Laëtitia Gouas, Philippe Vago, Anne‐Laure Mosca‐Boidron, Laurence Faivre, Chantal Missirian, Nicole Philip, Damien Sanlaville, Patrick Edery, Véronique Satre, Charles Coutton, Françoise Devillard, Klaus Dieterich, Marie‐Laure Vuillaume, Caroline Rooryck, Didier Lacombe, Lucile Pinson, Vincent Gâtinois, Jacques Puechberty, Jean Chiésa, James Lespinasse, Christèle Dubourg, Chloé Quēlin, Mélanie Fradin, Hubert Journel, Annick Toutain, Dominique Martin, Abdelamdjid Benmansour, Claire S. Leblond, Roberto Toro, Frédérique Amsellem, Richard Delorme, Thomas Bourgeron

    Publicado 2017
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  18. 18
    Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

    Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities por Debra D’Angelo, Sébastien Lebon, Qixuan Chen, Sandra Martin-Brevet, LeeAnne Green Snyder, Loyse Hippolyte, Ellen Hanson, Anne Maillard, W. Andrew Faucett, Aurélien Mace, Aurélie Pain, Raphael Bernier, Samuel J. R. A. Chawner, Albert David, Joris Andrieux, Elizabeth Aylward, Geneviève Baujat, Inês Caldeira, Philippe Conus, Carrina Ferrari, Francesca Forzano, Marion Gérard, Robin P. Goin‐Kochel, P. Ellen Grant, Jill V. Hunter, Bertrand Isidor, Aurélia Jacquette, Aia Elise Jønch, Boris Keren, Didier Lacombe, Cédric Le Caignec, Alastair J. Martin, Katrin Männik, Andres Metspalu, Cyril Mignot, Pratik Mukherjee, Michael J. Owen, Marzia Passeggeri, Caroline Rooryck, Jill A. Rosenfeld, Sarah Spence, Kyle J. Steinman, Jennifer Tjernagel, Mieke M. van Haelst, Yiping Shen, Bogdan Draganski, Elliott H. Sherr, David H. Ledbetter, Marianne B. M. van den Bree, J. Beckmann, John E. Spiro, Alexandre Reymond, Sébastien Jacquemont, Wendy K. Chung

    Publicado 2015
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  19. 19
    De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

    De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder por Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir Naeem Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, William J. Craigen, Stephan Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Éric Bieth, Laurence Perrin‐Sabourin, Marie‐Line Jacquemont, Megan T. Cho, Elizabeth Roeder, Anne‐Sophie Denommé‐Pichon, Kristin G. Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert‐Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A. Shaw, Ankita Patel, Janice Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly Nugent, James B. Gibson, Benjamin Cogné, James R. Lupski, Holly A.F. Stessman, Evan E. Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A. Rosenfeld, Peter‐Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor

    Publicado 2017
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  20. 20
    Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

    Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool por Frédéric Tran Mau‐Them, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Hana Safraou, Ange‐Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent‐Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godeliève Morel, Mélanie Fradin, Alinoë Lavillaureix, Chloé Quēlin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne‐Marie Guerrot, Anne‐Claire Bréhin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Elise Schaeffer, Pierre‐Yves Maillard, Frédérique Payet, Marie‐Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Émilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin‐Robinet

    Publicado 2023
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