检索结果 - Nicole Revençu

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  1. 1
    Cerebral cavernous malformation: new molecular and clinical insights

    Cerebral cavernous malformation: new molecular and clinical insights 由 Nicole Revençu

    出版 2006
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  2. 2
    Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population

    Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population 由 Michella Ghassibe‐Sabbagh, Bénédicte Bayet, Nicole Revençu, Christine Verellen‐Dumoulin, Y. Gillerot, R Vanwijck, Miikka Vikkula

    出版 2005
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  3. 3
    Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus

    Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus 由 Emmanuel Seront, Antoine Froidure, Nicole Revençu, Valérie Dekeuleneer, Philippe Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M. Boon

    出版 2024
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    Carta
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  4. 4
    Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC)

    Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC) 由 Peyman Ranji, Eleonore Pairet, Raphaël Helaers, Bénédicte Bayet, Alexander Gerdom, Vera Lúcia Gil‐da‐Silva‐Lopes, Nicole Revençu, Miikka Vikkula

    出版 2024
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  5. 5
    Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes

    Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes 由 M. H. Basha, Bénédicte Demeer, Nicole Revençu, Raphaël Helaers, Stéphanie Theys, Sami Bou Saba, Odile Boute, Bernard Devauchelle, Geneviève François, Bénédicte Bayet, Miikka Vikkula

    出版 2018
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    Artigo
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  6. 6
    A Novel Association between<i>RASA1</i>Mutations and Spinal Arteriovenous Anomalies

    A Novel Association between<i>RASA1</i>Mutations and Spinal Arteriovenous Anomalies 由 Ruth Thiex, John B. Mulliken, Nicole Revençu, Laurence M. Boon, Patricia E. Burrows, Maria Cordisco, Yim Dwight, Edward R. Smith, Miikka Vikkula, Darren B. Orbach

    出版 2009
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  7. 7
    Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations

    Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations 由 Emmanuel Seront, An Van Damme, Catherine Legrand, Annouk Bisdorff-Bresson, Philippe Orcel, Thomas Funck‐Brentano, Marie‐Antoinette Sevestre, A. Dompmartin, I. Quéré, Pascal Brouillard, Nicole Revençu, Martina De Bortoli, Frank Hammer, Philippe Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M. Boon

    出版 2023
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  8. 8
    Genotypes and Phenotypes of 162 Families with a &lt;b&gt;&lt;i&gt;Glomulin&lt;/i&gt;&lt;/b&gt; Mutation

    Genotypes and Phenotypes of 162 Families with a &lt;b&gt;&lt;i&gt;Glomulin&lt;/i&gt;&lt;/b&gt; Mutation 由 Pascal Brouillard, Laurence M. Boon, Nicole Revençu, J. Berg, A. Dompmartin, Josée Dubois, Maria C. Garzón, Simon Holden, Loshan Kangesu, Christine Labrèze, Sally Ann Lynch, C McKeown, Raimundas Meškauskas, I. Quéré, Samira Syed, P. Vabres, Michel Wassef, John B. Mulliken, Miikka Vikkula

    出版 2013
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  9. 9
    Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

    Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth 由 Nicole Revençu, Laurence M. Boon, A. Dompmartin, Paul N.M.A. Rieu, W Busch, Josée Dubois, Francesca Forzano, Johanna M. van Hagen, Sara Halbach, A. Kuechler, A.M.A. Lachmeijer, Jyrki Lähde, Laura Russell, K. O. J. Simola, John B. Mulliken, Miikka Vikkula

    出版 2013
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    Artigo
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  10. 10
    Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

    Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA 由 Nicole Revençu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulàlia Baselga, Claudia Cesario, Maria Lisa Dentici, Mélanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene‐Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger‐Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf‐Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula

    出版 2024
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  11. 11
    Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

    Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly 由 Catherine Fallet‐Bianco, Annie Laquerrière, Karine Poirier, Ferechté Razavi, Fabien Guimiot, Patrícia Dias, Laurence Lœuillet, Karine Lascelles, Chérif Beldjord, Nathalie Carion, Aurélie Toussaint, Nicole Revençu, Marie‐Claude Addor, Benoît Lhermitte, Marie Gonzalès, Jelena Martinovich, Bettina Bessières, Maryse Marcy-Bonnière, Frédérique Jossic, Pascale Marcorelles, Philippe Loget, Jamel Chelly, Nadia Bahi‐Buisson

    出版 2014
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  12. 12
    Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

    Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syn... 由 Renata Lúcia Leite Ferreira de Lima, Sarah A. Hoper, Michella Ghassibe‐Sabbagh, Margaret E. Cooper, Nicholas K. Rorick, Shinji Kondo, Lori Katz, Mary L. Marazita, John G. Compton, Sherri J. Bale, Ute Hehr, Michael J. Dixon, Sandra Daack‐Hirsch, Odile Boute, Bénédicte Bayet, Nicole Revençu, Christine Verellen‐Dumoulin, Miikka Vikkula, Antônio Richieri‐Costa, Danilo Moretti‐Ferreira, Jeffrey C. Murray, Brian C. Schutte

    出版 2009
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    Artigo
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  13. 13
    FAF1, a Gene that Is Disrupted in Cleft Palate and Has Conserved Function in Zebrafish

    FAF1, a Gene that Is Disrupted in Cleft Palate and Has Conserved Function in Zebrafish 由 Michella Ghassibe‐Sabbagh, Laurence Desmyter, Tobias Langenberg, Filip Claes, Odile Boute, Bénédicte Bayet, P. Pellerin, Karlien Hermans, Liesbeth Backx, M. Adela Mansilla, Sandra R. Imoehl, Stefanie Nowak, Kerstin U. Ludwig, Carlotta Baluardo, Melissa Ferrian, Peter Mossey, Markus M. Nöethen, Mieke Dewerchin, Geneviève François, Nicole Revençu, R Vanwijck, Jacqueline T. Hecht, Elisabeth Mangold, Jeffrey C. Murray, Michele Rubini, Joris Vermeesch, Hélène A. Poirel, Peter Carmeliet, Miikka Vikkula

    出版 2011
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  14. 14
    Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

    Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey 由 Tracy A. Briggs, Gillian Rice, Navid Adib, Lesley C. Adès, Stéphane Barète, Kannan Baskar, Véronique Baudouin, Ayşe Nurcan Cebeci, Philippe Clapuyt, David Coman, Lien De Somer, Yael Finezilber, Moshe Frydman, Ayla Güven, Sebastien Héritier, Daniela Karall, Muralidhar L. Kulkarni, Pierre Lebon, David Levitt, Martine Le Merrer, Agnès Linglart, John H. Livingston, Vincent Navarro, Ericka Okenfuss, Anne Puel, Nicole Revençu, Sabine Scholl‐Bürgi, Marina Vivarelli, Carine Wouters, Brigitte Bader‐Meunier, Yanick J. Crow

    出版 2016
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  15. 15
    Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

    Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations 由 Nicole Revençu, Laurence M. Boon, John B. Mulliken, O Enjolras, Maria Cordisco, Patricia E. Burrows, Philippe Clapuyt, Frank Hammer, Josée Dubois, Eulàlia Baselga, Francesco Brancati, Robin Carder, José Miguel Ceballos Quintal, Bruno Dallapiccola, Gayle Fischer, Ilona J. Frieden, Maria C. Garzón, John Harper, Jennifer Johnson-Patel, Christine Labrèze, Loreto Martorell, Harriet J. Paltiel, Annette Pohl, Julie Prendiville, I. Quéré, Dawn H. Siegel, Enza Maria Valente, Annet van Hagen, Liselot van Hest, Keith K. Vaux, Asunción Vicente, Lisa Weibel, David Chitayat, Miikka Vikkula

    出版 2008
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  16. 16
    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders 由 Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska Van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, Heather M. McLaughlin, Roger L. Ladda, Susan L. Sell, Marjolein Kriek, Cacha Peeters‐Scholte, Paulien A. Terhal, Koen L.I. van Gassen, Nienke E. Verbeek, Sonja Henry, Jessica Scott Schwoerer, Saleem Malik, Nicole Revençu, Carlos R. Ferreira, Ellen F. Macnamara, Hilde M. H. Braakman, Elise Brimble, Maura Ruzhnikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B.A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E.L.M. Vissers

    出版 2018
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  17. 17
    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases 由 Nancy Végas, Zeynep Demir, Christopher T. Gordon, Sylvain Breton, Vanessa Luiza Romanelli Tavares, Hugo Moisset, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Hon‐Yin Chung, Nicole Revençu, Daphné Lehalle, Florence Petit, Evan J. Propst, Blake C. Papsin, John H. Phillips, Linda P. Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H. Gerkes, Chiara Leoni, Peter M. Kroisel, Tiong Yang Tan, Alex Henderson, Paulien A. Terhal, Lina Basel‐Vanagaite, A. Alkindy, Susan M. White, Maria Rita Passos‐Bueno, Véronique Pingault, Loïc de Pontual, Jeanne Amiel

    出版 2022
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  18. 18
    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling 由 Mustapha Amyere, Nicole Revençu, Raphaël Helaers, Eleonore Pairet, Eulàlia Baselga, Maria Cordisco, Wendy K. Chung, Josée Dubois, J.‐P. Lacour, Loreto Martorell, J. Mazereeuw‐Hautier, Reed E. Pyeritz, David J. Amor, Annouk Bisdorff, Francine Blei, Hannah Bombei, A. Dompmartin, David G. Brooks, Juliette Dupont, María Antonia González-Enseñat, Ilona J. Frieden, Marion Gérard, Malin Kvarnung, Andrea Hanson‐Kahn, Louanne Hudgins, C. Léauté‐Labrèze, Catherine McCuaïg, Denise W. Metry, P. Parent, C. Paul, Florence Petit, Alice Phan, I. Quéré, Aïcha Salhi, Anne Turner, P. Vabres, Asunción Vicente, Orli Wargon, Shôji Watanabe, Lisa Weibel, Ashley Wilson, Marcia Willing, John B. Mulliken, Laurence M. Boon, Miikka Vikkula

    出版 2017
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  19. 19
    <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity

    <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity 由 Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A. Rouleau, Fadi F. Hamdan, Jacques L. Michaud, Jenny Morton, Jessica A. Radley, Nicola Ragge, Sixto García‐Miñaúr, Pablo Lapunzina, María Palomares‐Bralo, María Ángeles Mori, Stéphanie Moortgat, Valérie Benoît, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K. Vaux, Nataliya Di Donato, Andrea Hanson‐Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalová, Markéta Havlovičová, Miroslava Hančárová, Magdalena Budişteanu, Annelies Dheedene, Björn Menten, Patrick A. Dion, Damien Lederer, Bert Callewaert

    出版 2017
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  20. 20
    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum 由 Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael Parker, Yanick J. Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne McConnell, Deirdre E. Donnelly, Siren Berland, Gunnar Houge, Jenny E.V. Morton, Christine Oley, Nicole Revençu, Soo-Mi Park, Sally Davies, Andrew E. Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne Lam, John Tolmie, Shehla Mohammed, Emma Hobson, Audrey Smith, Moira Blyth, Christopher Bennett, Pradeep Vasudevan, Sixto García‐Miñaúr, Alex Henderson, Judith Goodship, Michael Wright, Richard Fisher, Richard J. Gibbons, Susan Price, Deepthi C. de Silva, I. Karen Temple, Amanda Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton‐Smith, Graeme Black, Dian Donnai

    出版 2011
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