نتائج البحث - Philippe Loget

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  1. 1
    Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A

    Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A حسب Catherine Fallet‐Bianco, Laurence Lœuillet, Karine Poirier, Philippe Loget, Françoise Chapon, Laurent Pasquier, Yoann Saillour, Chérif Beldjord, Jamel Chelly, Fiona Francis

    منشور في 2008
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    Artigo
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  2. 2
    Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

    Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases حسب Laurent Pasquier, Pascale Marcorelles, Philippe Loget, Fanny Pelluard, Dominique Carles, Marie‐Josée Perez, Claude Bendavid, Céline de La Rochebrochard, M. Ferry, Véronique David, Sylvie Odent, Annie Laquerrière

    منشور في 2008
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    Artigo
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  3. 3
    Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

    Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci حسب Karine Morcel, Tanguy Watrin, Laurent Pasquier, Lucie Rochard, Cédric Le Caignec, Christèle Dubourg, Philippe Loget, Bernard‐Jean Paniel, Sylvie Odent, Véronique David, Isabelle Pellerin, Claude Bendavid, Daniel Guerrier

    منشور في 2011
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    Artigo
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  4. 4
    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases حسب Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo‐Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid, Sylvie Jaillard, Lucie Rochard, C. Quelin, Valérie Dupé, Véronique David, Sylvie Odent

    منشور في 2011
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    Artigo
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  5. 5
    Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

    Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes حسب Leire Madariaga, Vincent Morinière, Marc Jeanpierre, Raymonde Bouvier, Philippe Loget, Jéléna Martinovic, Pierre Déchelotte, Nathalie Leporrier, Christel Thauvin-Robinet, Uffe Birk Jensen, Dominique Gaillard, Michèle Mathieu, Bruno Turlin, Tania Attié‐Bitach, Rémi Salomon, Marie‐Claire Gubler, Corinne Antignac, Laurence Heidet

    منشور في 2013
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    Artigo
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  6. 6
    RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

    RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects حسب Marc Jeanpierre, G. Macé, Mélanie Parisot, Vincent Morinière, A. Pawtowsky, Max E. Benabou, Jéléna Martinovic, Jeanne Amiel, Tania Attié‐Bitach, Anne‐Lise Delezoide, Philippe Loget, Patricia Blanchet, Dominique Gaillard, M. Gonzalés, Wassila Carpentier, Patrick Nitschké, Frédéric Torès, Laurence Heidet, Corinne Antignac, Rémi Salomon

    منشور في 2011
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    Artigo
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  7. 7
    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 حسب 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

    منشور في 2014
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    Artigo
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  8. 8
    Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

    Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly حسب Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi, Louise Devisme, Samuel Quentin, Steven Gazal, Annie Laquerrière, Catherine Fallet‐Bianco, Philippe Loget, Sylvie Odent, Dominique Carles, Anne Bazin, Jacqueline Aziza, Alix Clémenson, Fabien Guimiot, Maryse Bonnière, Sophie Monnot, Christine Bôle‐Feysot, Jean‐Pierre Bernard, Laurence Lœuillet, Marie Gonzalès, Koryna Socha, Bernard Grandchamp, Tania Attié‐Bitach, Férechté Encha‐Razavi, Nathalie Seta

    منشور في 2012
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    Artigo
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  9. 9
    Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

    Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria حسب Xavier H. Jaglin, Karine Poirier, Yoann Saillour, Emmanuelle Buhler, Guoling Tian, Nadia Bahi‐Buisson, Catherine Fallet‐Bianco, Françoise Phan-Dinh-Tuy, Xiang‐Peng Kong, Pascale Bomont, Laëtitia Castelnau-Ptakhine, Sylvie Odent, Philippe Loget, Manoëlle Kossorotoff, I. Snoeck, Ghislaine Plessis, Philippe Parent, Chérif Beldjord, Carlos Cardoso, Alfonso Represa, Jonathan Flint, David A. Keays, Nicholas J. Cowan, Jamel Chelly

    منشور في 2009
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    Artigo
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  10. 10
    Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

    Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome حسب Houda Karmous‐Benailly, Jéléna Martinovic, Marie‐Claire Gubler, Yoann Sirot, Laure Clech, Catherine Ozilou, Joëlle Augé, Nora Brahimi, Heather Etchevers, Eric Detrait, Chantal Esculpavit, Sophie Audollent, Géraldine Goudefroye, Marie Gonzalès, Julia Tantau, Philippe Loget, Madeleine Joubert, Dominique Gaillard, Corinne Jeanne‐Pasquier, Anne‐Lise Delezoide, Marie-Odile Peter, Ghislaine Plessis, Brigitte Simon‐Bouy, Hélène Dollfus, Martine Le Merrer, Arnold Münnich, Férechté Encha‐Razavi, Michel Vekemans, Tania Attié‐Bitach

    منشور في 2005
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    Artigo
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  11. 11
    The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

    The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation حسب Christel Thauvin‐Robinet, Jaclyn S Lee, Estelle Lopez, Vicente Herranz‐Pérez, Toshinobu Shida, Brunella Franco, Laurence Jego, Fan Ye, Laurent Pasquier, Philippe Loget, Nadège Gigot, Bernard Aral, Carla A.M. Lopes, Judith St‐Onge, Ange‐Line Bruel, Julien Thévenon, Susana González-Granero, Caroline Alby, Arnold Münnich, Michel Vekemans, Frédéric Huet, Andrew M. Fry, Sophie Saunier, Jean‐Baptiste Rivière, Tania Attié‐Bitach, José Manuel García‐Verdugo, Laurence Faivre, André Mégarbané, Maxence V. Nachury

    منشور في 2014
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    Artigo
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  12. 12
    <i>CC2D2A</i>mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

    <i>CC2D2A</i>mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation حسب Soumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker‐Ravi, Sophie Audollent, Nadia Elkhartoufi, Candice Babarit, Stéphane Romano, Rémi Salomon, Jeanne Amiel, Chantal Esculpavit, Marie Gonzalès, Estelle Escudier, Bruno Leheup, Philippe Loget, Sylvie Odent, J. Roume, Marion Gérard, Anne-Lise Delezoide, Suonavy Khung, Sophie Patrier, Marie-Pierre Cordier, Raymonde Bouvier, Jéléna Martinovic, Marie‐Claire Gubler, Nathalie Boddaert, Arnold Münnich, Férechté Encha‐Razavi, Enza Maria Valente, Ali Saâd, Sophie Saunier, Michel Vekemans, Tania Attié‐Bitach

    منشور في 2009
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    Artigo
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  13. 13
    Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies حسب Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D’Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonnière, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, E. Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes Penzien, Paola Grammatico, the International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Tania Attié‐Bitach, Enza Maria Valente

    منشور في 2010
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    Artigo
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  14. 14
    Molecular heterogeneity in fetal forms of type II lissencephaly

    Molecular heterogeneity in fetal forms of type II lissencephaly حسب C Bouchet, M. Gonzalés, Sandrine Vuillaumier‐Barrot, Louise Devisme, C. Lebizec, Elisabeth Alanio, Anne Bazin, B. Bessières-Grattagliano, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Dominique Carles, Sophie Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, B. Gasser, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, F. Menez, Sophie Patrier, Fanny Pelluard-Nehmé, Marie-José Perez, C. Rouleau-Dubois, Stéphane Triau, A. Laquérrière, Férechté Encha‐Razavi, Nathalie Seta

    منشور في 2007
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    Artigo
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  15. 15
    Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

    Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies حسب Louise Devisme, C Bouchet, Marie Gonzalès, Elisabeth Alanio, Anne Bazin, Bettina Bessières, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Martine Bucourt, Dominique Carles, Bénédicte Clarisse, S. Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, Bernard Gasser, Anne‐Lise Delezoide, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Annie Laquerrière, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, Françoise Ménez, Sophie Patrier, Fanny Pelluard, Marie-José Perez, Caroline Rouleau, Stéphane Triau, Tania Attié‐Bitach, Sandrine Vuillaumier‐Barrot, Nathalie Seta, Férechté Encha‐Razavi

    منشور في 2012
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    Artigo
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  16. 16
    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder حسب Sara Cuvertino, Helen M. Stuart, Kate Chandler, Neil Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev S. Bhaskar, Bert Callewaert, Jill Clayton‐Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, M. Cristina Digilio, Abhijit Dixit, Matthew Edwards, Jan M. Friedman, Antonio González‐Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y.T., Ruth McGowan, Maryse Des Medt, James D.B. O’Sullivan, Sylvie Odent, Michael Parker, Céline Pebrel‐Richard, Florence Petit, Zornitza Stark, Sylvia Stöckler‐Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M. White, Farah Zahir, Adrian S. Woolf, Siddharth Banka

    منشور في 2017
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    Artigo
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  17. 17
    Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

    Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes حسب Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thévenon, Laurence Jego, Estelle Lopez, Jean‐François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Bürglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert‐Dussardier, Bruno Reversade, Elisabeth Steichen‐Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie M.H.F. Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St‐Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier‐Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz‐Pérez, Jaclyn S. Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attié‐Bitach, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet

    منشور في 2017
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    Revisão
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