Rezultaty - Nicole Philip

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  1. 1
    Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome

    Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome od Nicole Philip, Anne S. Bassett

    Wydane 2011
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  2. 2
    Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

    Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients od Anne Moncla, Perrine Malzac, Marie‐Antoinette Voelckel, P. Auquier, Lydie Girardot, Marie‐Geneviève Mattéi, Nicole Philip, Jean-François Mattéi, Marc Lalande, Marie-Odile Livet

    Wydane 1999
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  3. 3
    A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

    A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype od Anne Moncla, Chantal Missirian, Pierre Cacciagli, Eve Balzamo, Laurence Legeai‐Mallet, Jean-Luc Jouve, B. Chabrol, Martine Le Merrer, Ghislaine Plessis, Laurent Villard, Nicole Philip

    Wydane 2007
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  4. 4
    New Management Strategy of Pregnancies at Risk of Congenital Adrenal Hyperplasia Using Fetal Sex Determination in Maternal Serum: French Cohort of 258 Cases (2002–2011)

    New Management Strategy of Pregnancies at Risk of Congenital Adrenal Hyperplasia Using Fetal Sex Determination in Maternal Serum: French Cohort of 258 Cases (2002–2011) od Véronique Tardy-Guidollet, Rita Menassa, Jean‐Marc Costa, M David, Claire Bouvattier-Morel, Clarisse Baumann, Muriel Houang, F. Lorenzini, Nicole Philip, Sylvie Odent, Agnès Guichet, Yves Morel

    Wydane 2014
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  5. 5
    Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma

    Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma od Delphine Trochet, Franck Bourdeaut, Isabelle Janoueix‐Lerosey, Anne Deville, Loïc de Pontual, Gudrun Schleiermacher, Carole Coze, Nicole Philip, Thierry Frébourg, Arnold Münnich, Stanislas Lyonnet, Olivier Delattre, Jeanne Amiel

    Wydane 2004
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  6. 6
    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations

    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations od Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo, Ilias Tzelepis, Estelle Colin, Catherine Badens, Alexandra Afenjar, Anne Dieux Coeslier, Thomas Dailland, Gaëtan Lesca, Nicole Philip, Laurent Villard

    Wydane 2015
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  7. 7
    Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

    Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome od Anne S. Bassett, Donna M. McDonald‐McGinn, Koenraad Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Sólveig Óskarsdóttir, Nicole Philip, Kathleen E. Sullivan, Ann Swillen, Jacob Vorstman

    Wydane 2011
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  8. 8
    22q11.2 deletion syndrome

    22q11.2 deletion syndrome od Donna M. McDonald‐McGinn, Kathleen E. Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob Vorstman, Elaine H. Zackai, Beverly S. Emanuel, Joris Vermeesch, Bernice E. Morrow, Peter Scambler, Anne S. Bassett

    Wydane 2015
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  9. 9
    Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures

    Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures od Jeanne Amiel, Yolanda Espinosa‐Parrilla, Julie Steffann, Philippe Gosset, Anna Pelet, Marguerite Prieur, Odile Boute, Agnès Choiset, Didier Lacombe, Nicole Philip, Martine Le Merrer, Hajime Tanaka, Marianne Till, Renaud Touraine, Annick Toutain, Michel Vekemans, Arnold Münnich, Stanislas Lyonnet

    Wydane 2001
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  10. 10
    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome

    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome od Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, Thierry Gaillon, Julia Rankin, Michèle Mathieu‐Dramard, G Morin, Dominique Martin–Coignard, Christèle Dubourg, B. Chabrol, Jacqueline Arfi, Fabienne Giuliano, Jean Claude Lambert, Nicole Philip, Pierre Sarda, Laurent Villard, Michel Goossens, Anne Moncla

    Wydane 2008
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  11. 11
    LIS1-Related Isolated Lissencephaly

    LIS1-Related Isolated Lissencephaly od Yoann Saillour, Nathalie Carion, Chloé Quēlin, Pierre‐Louis Léger, Nathalie Boddaert, Caroline Elie, Annick Toutain, Sandra Mercier, Marie Anne Barthez, Mathieu Milh, Sylvie Joriot, Vincent des Portes, Nicole Philip, D Broglin, Agathe Roubertie, G. Pitelet, Marie Laure Moutard, J.-M. Pinard, Clément Cancès, Claude Cancès, Anna Kaminśka, Jamel Chelly, Chérif Beldjord, Nadia Bahi‐Buisson

    Wydane 2009
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  12. 12
    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases

    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases od Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi, Pierre Cacciagli, Cécilia Altuzarra, Agathe Roubertie, Alexandra Afenjar, Florence Renaldo‐Robin, Bertrand Isidor, Agnès Gautier, Marie Husson, Claude Cancès, Julia Métreau, Cécile Laroche, Mondher Chouchane, Dorothée Ville, Stéphanie Marignier, Christelle Rougeot, Marine Lebrun, Anne de Saint Martin, Alexandra Perez, Audrey Riquet, Catherine Badens, Chantal Missirian, Nicole Philip, B. Chabrol, Laurent Villard, Mathieu Milh

    Wydane 2015
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  13. 13
    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment od Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Cristina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Carlo Rivolta, Josseline Kaplan, Jean‐Michel Rozet, Isabelle Perrault

    Wydane 2023
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  14. 14
    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment od Isabelle Perrault, Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Christina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Josseline Kaplan, Carlo Rivolta, Jean‐Michel Rozet

    Wydane 2023
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  15. 15
    Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

    Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies od Marcello Niceta, Emilia Stellacci, Karen W. Gripp, Giuseppe Zampino, Maria Kousi, Massimiliano Anselmi, Alice Traversa, Andrea Ciolfi, Deborah L. Stabley, Alessandro Bruselles, Viviana Caputo, Serena Cecchetti, Sabrina Prudente, Maria Teresa Fiorenza, Carla Boitani, Nicole Philip, Dmitriy Niyazov, Chiara Leoni, Takaya Nakane, Kim M. Keppler‐Noreuil, Stephen R. Braddock, Gabriele Gillessen‐Kaesbach, Antonio Palleschi, Philippe M. Campeau, Brendan Lee, Célio Pouponnot, Lorenzo Stella, Gianfranco Bocchinfuso, Nicholas Katsanis, Katia Sol‐Church, Marco Tartaglia

    Wydane 2015
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  16. 16
    Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

    Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome od Michael Bauer, Uwe Kölsch, Renate Krüger, Nadine Unterwalder, Karin Hameister, Fabian Kaiser, Aglaia Vignoli, Rainer Rossi, M.P. Botella, Magdalena Budişteanu, Mónica Roselló, Carmen Orellana, María‐Isabel Tejada, Sorina Mihaela Papuc, O. Patat, Sophie Julia, Renaud Touraine, Thusari Gomes, K. Wenner, Xiu Xu, Alexandra Afenjar, Annick Toutain, Nicole Philip, Aleksandra Jezela‐Stanek, Ludwig Gortner, Francisco Martı́nez, Bernard Échenne, V. Wahn, Christian Meisel, Dagmar Wieczorek, Salima El-Chehadeh, Hilde Van Esch, Horst von Bernuth

    Wydane 2015
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  17. 17
    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome od Sophie Geoffron, Walid Abi Habib, Sandra Chantot‐Bastaraud, B. Dubern, Virginie Steunou, Salah Azzi, Alexandra Afenjar, Tiffany Busa, Ana Pinheiro Machado Canton, Christel Chalouhi, Marie‐Noëlle Dufourg, Blandine Esteva, Mélanie Fradin, David Geneviève, Solveig Heide, Bertrand Isidor, Agnès Linglart, Fanny Morice Picard, Catherine Naud-Saudreau, Isabelle Petit, Nicole Philip, Catherine Pienkowski, Marlène Rio, Sylvie Rossignol, Maïthé Tauber, Julien Thévenon, Thuy-Ai Vu-Hong, Madeleine D. Harbison, Jennifer Ben Salem, Frédéric Brioude, Irène Netchine, Éloïse Giabicani

    Wydane 2018
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  18. 18
    Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

    Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome od Elisabeth E. Mlynarski, Michael Xie, Deanne Taylor, Molly B. Sheridan, Tingwei Guo, Silvia E. Racedo, Donna M. McDonald‐McGinn, Eva W.C. Chow, Jacob Vorstman, Ann Swillen, Koenraad Devriendt, Jeroen Breckpot, Maria Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Nicole Philip, Tony J. Simon, Amy E. Roberts, Małgorzata Piotrowicz, Carrie E. Bearden, Stéphan Eliez, Doron Gothelf, Karlene Coleman, Wendy R. Kates, Marcella Devoto, Elaine H. Zackai, Damián Heine‐Suñer, Elizabeth Goldmuntz, Anne S. Bassett, Bernice E. Morrow, Beverly S. Emanuel

    Wydane 2016
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  19. 19
    Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

    Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome od Elisabeth E. Mlynarski, Molly B. Sheridan, Michael Xie, Tingwei Guo, Silvia E. Racedo, Donna M. McDonald‐McGinn, Xiaowu Gai, Eva W.C. Chow, Jacob Vorstman, Ann Swillen, Koenraad Devriendt, Jeroen Breckpot, Maria Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Nicole Philip, Tony J. Simon, Amy E. Roberts, Małgorzata Piotrowicz, Carrie E. Bearden, Stéphan Eliez, Doron Gothelf, Karlene Coleman, Wendy R. Kates, Marcella Devoto, Elaine H. Zackai, Damián Heine‐Suñer, Tamim H. Shaikh, Anne S. Bassett, Elizabeth Goldmuntz, Bernice E. Morrow, Beverly S. Emanuel

    Wydane 2015
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  20. 20
    Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

    Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome od Viviana Cordeddu, Jiani C. Yin, Cecilia Gunnarsson, Carl Virtanen, Séverine Drunat, Francesca Romana Lepri, Alessandro De Luca, Cesare Rossi, Andrea Ciolfi, Trevor J. Pugh, Alessandro Bruselles, James R. Priest, L Pennacchio, Zhibin Lu, Arnavaz Danesh, Rene Quevedo, Alaa Hamid, Simone Martinelli, Francesca Pantaleoni, Maria Gnazzo, Paola Daniele, Christina Lißewski, Gianfranco Bocchinfuso, Lorenzo Stella, Sylvie Odent, Nicole Philip, Laurence Faivre, Markéta Vlčková, E Seemanová, Cristina Digilio, Martin Zenker, Giuseppe Zampino, Alain Verloès, Bruno Dallapiccola, Amy E. Roberts, Hélène Cavé, Bruce D. Gelb, Benjamin G. Neel, Marco Tartaglia

    Wydane 2015
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