Výsledky vyhledávání - Loget, Philippe

Chorioamnionitis following preterm premature rupture of membranes and fetal heart rate variability Autor Vandenbroucke, Laurent, Doyen, Matthieu, Le Lous, Maëla, Beuchée, Alain, Loget, Philippe, Carrault, Guy, Pladys, Patrick

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Ultrasound Presentation of a Disseminated Fetal and Neonatal Rhabdoid Tumor Autor Joueidi, Yolaine, Rousselin, Aline, Rozel, Céline, Loget, Philippe, Ranchere Vince, Dominique, Odent, Sylvie, Bourdeaut, Franck, Lavoue, Vincent, Le Lous, Maela

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New Insight on FGFR3-Related Chondrodysplasias Molecular Physiopathology Revealed by Human Chondrocyte Gene Expression Profiling Autor Schibler, Laurent, Gibbs, Linda, Benoist-Lasselin, Catherine, Decraene, Charles, Martinovic, Jelena, Loget, Philippe, Delezoide, Anne-Lise, Gonzales, Marie, Munnich, Arnold, Jais, Jean-Philippe, Legeai-Mallet, Laurence

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

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

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Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes Autor Madariaga, Leire, Morinière, Vincent, Jeanpierre, Cécile, Bouvier, Raymonde, Loget, Philippe, Martinovic, Jelena, Dechelotte, Pierre, Leporrier, Nathalie, Thauvin-Robinet, Christel, Jensen, Uffe Birk, Gaillard, Dominique, Mathieu, Michele, Turlin, Bruno, Attie-Bitach, Tania, Salomon, Rémi, Gübler, Marie-Claire, Antignac, Corinne, Heidet, Laurence

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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly Autor Fallet-Bianco, Catherine, Laquerrière, Annie, Poirier, Karine, Razavi, Ferechte, Guimiot, Fabien, Dias, Patricia, Loeuillet, Laurence, Lascelles, Karine, Beldjord, Cherif, Carion, Nathalie, Toussaint, Aurélie, Revencu, Nicole, Addor, Marie-Claude, Lhermitte, Benoit, Gonzales, Marie, Martinovich, Jelena, Bessieres, Bettina, Marcy-Bonnière, Maryse, Jossic, Frédérique, Marcorelles, Pascale, Loget, Philippe, Chelly, Jamel, Bahi-Buisson, Nadia

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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria Autor Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, Fallet-Bianco, Catherine, Phan-Dinh-Tuy, Françoise, Kong, Xiang Peng, Bomont, Pascale, Castelnau-Ptakhine, Laëtitia, Odent, Sylvie, Loget, Philippe, Kossorotoff, Manoelle, Snoeck, Irina, Plessis, Ghislaine, Parent, Philippe, Beldjord, Cherif, Cardoso, Carlos, Represa, Alfonso, Flint, Jonathan, Keays, David Anthony, Cowan, Nicholas Justin, Chelly, Jamel

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

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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder Autor Maia, Nuno, Potelle, Sven, Yildirim, Hamide, Duvet, Sandrine, Akula, Shyam K., Schulz, Celine, Wiame, Elsa, Gheldof, Alexander, O’Kane, Katherine, Lai, Abbe, Sermon, Karen, Proisy, Maïa, Loget, Philippe, Attié-Bitach, Tania, Quelin, Chloé, Fortuna, Ana Maria, Soares, Ana Rita, de Brouwer, Arjan P.M., Van Schaftingen, Emile, Nassogne, Marie-Cécile, Walsh, Christopher A., Stouffs, Katrien, Jorge, Paula, Jansen, Anna C., Foulquier, François

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

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

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Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies Autor Iannicelli, Miriam, Brancati, Francesco, Mougou-Zerelli, Soumaya, Mazzotta, Annalisa, Thomas, Sophie, Elkhartoufi, Nadia, Travaglini, Lorena, Gomes, Céline, Ardissino, Gian Luigi, Bertini, Enrico, Boltshauser, Eugen, Castorina, Pierangela, D'Arrigo, Stefano, Fischetto, Rita, Leroy, Brigitte, Loget, Philippe, Bonnière, Maryse, Starck, Lena, Tantau, Julia, Gentilin, Barbara, Majore, Silvia, Swistun, Dominika, Flori, Elizabeth, Lalatta, Faustina, Pantaleoni, Chiara, Johannes.Penzien, Grammatico, Paola, Dallapiccola, Bruno, Gleeson, Joseph G., Attie-Bitach, Tania, Valente, Enza Maria

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

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

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

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Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome Autor Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Bernardina, Bernardo Dalla, Danieli, Alberto, Darra, Francesca, Deconinck, Nicolas, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, Montomoli, Martino, Mortilla, Marzia, Osanni, Elisa, Parisi, Pasquale, Perucca, Emilio, Pinelli, Lorenzo, Romaniello, Romina, Severino, Mariasavina, Vigevano, Federico, Vignoli, Aglaia, Bahi-Buisson, Nadia, Cavallin, Mara, Accogli, Andrea, Burgeois, Marie, Capra, Valeria, Chaves-Vischer, Virgine, Chiapparini, Luisa, Colafati, GiovannaStefania, D'Arrigo, Stefano, Desguerre, Isabelle, Doco-Fenzy, Martine, d'Orsi, Giuseppe, Epitashvili, Nino, Fazzi, Elisa, Ferretti, Alessandro, Fiorini, Elena, Fradin, Melanie, Fusco, Carlo, Granata, Tiziana, Johannesen, Katrine Marie, Lebon, Sebastien, Loget, Philippe, Moller, Rikke Steensjerre, Montanaro, Domenico, Orcesi, Simona, Quelin, Chloe, Rebessi, Erika, Romeo, Antonino, Solazzi, Roberta, Spagnoli, Carlotta, Uebler, Christian, Zara, Federico, Arzimanoglou, Alexis, Veggiotti, Pierangelo

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