Resultados de procura - Attie-Bitach, Tania 

Evidence for and against vertical transmission for severe acute respiratory syndrome coronavirus 2 por Lamouroux, Audrey, Attie-Bitach, Tania, Martinovic, Jelena, Leruez-Ville, Marianne, Ville, Yves

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2 por Baral, Viviane, Chaoui, Asma, Watanabe, Yuli, Goossens, Michel, Attie-Bitach, Tania, Marlin, Sandrine, Pingault, Veronique, Bondurand, Nadege

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome por Aguilar, Andrea, Meunier, Alice, Strehl, Laetitia, Martinovic, Jelena, Bonniere, Maryse, Attie-Bitach, Tania, Encha-Razavi, Féréchté, Spassky, Nathalie

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Pitchfork Regulates Primary Cilia Dizsassembly and Left-Right Asymmetry por Kinzel, Doris, Boldt, Karsten, Davis, Erica E., Burtscher, Ingo, Trümbach, Dietrich, Diplas, Bill, Attié-Bitach, Tania, Wurst, Wolfgang, Katsanis, Nicholas, Ueffing, Marius, Lickert, Heiko

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients por Abadie, Véronique, Hamiaux, Priscilla, Ragot, Stéphanie, Legendre, Marine, Malecot, Gaelle, Burtin, Alexia, Attie-Bitach, Tania, Lyonnet, Stanislas, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Vaivre-Douret, Laurence

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Expression of PKD1 and PKD2 Transcripts and Proteins in Human Embryo and during Normal Kidney Development por Chauvet, Véronique, Qian, Feng, Boute, Nicolas, Cai, Yiqiang, Phakdeekitacharoen, Bunyong, Onuchic, Luis F., Attié-Bitach, Tania, Guicharnaud, Liliane, Devuyst, Olivier, Germino, Gregory G., Gubler, Marie-Claire

Ligazón do recurso Ligazón do recurso

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance por Egloff, Matthieu, Nguyen, Lam-Son, Siquier-Pernet, Karine, Cormier-Daire, Valérie, Baujat, Geneviève, Attié-Bitach, Tania, Bole-Feysot, Christine, Nitschke, Patrick, Vekemans, Michel, Colleaux, Laurence, Malan, Valérie

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy por Molinari, Florence, Raas-Rothschild, Annick, Rio, Marlène, Fiermonte, Giuseppe, Encha-Razavi, Ferechté, Palmieri, Luigi, Palmieri, Ferdinando, Ben-Neriah, Ziva, Kadhom, Noman, Vekemans, Michel, Attié-Bitach, Tania, Munnich, Arnold, Rustin, Pierre, Colleaux, Laurence

Ligazón do recurso Ligazón do recurso

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 por Golzio, Christelle , Martinovic-Bouriel, Jelena , Thomas, Sophie , Mougou-Zrelli, Soumaya , Grattagliano-Bessières, Bettina , Bonnière, Maryse , Delahaye, Sophie , Munnich, Arnold , Encha-Razavi, Férechté , Lyonnet, Stanislas , Vekemans, Michel , Attié-Bitach, Tania , Etchevers, Heather C. 

Ligazón do recurso Ligazón do recurso

A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus por Beaufrère, Aurélie, Bessières, Bettina, Bonnière, Maryse, Driessen, Marine, Alfano, Christian, Couderc, Thérèse, Thiry, Marc, Thelen, Nicolas, Lecuit, Marc, Attié‐Bitach, Tania, Vekemans, Michel, Ville, Yves, Nguyen, Laurent, Leruez‐Ville, Marianne, Encha‐Razavi, Férechté

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH por Andrieux, Joris, Dubourg, Christèle, Rio, Marlène, Attie-Bitach, Tania, Delaby, Elsa, Mathieu, Michèle, Journel, Hubert, Copin, Henri, Blondeel, Eléonore, Doco-Fenzy, Martine, Landais, Emilie, Delobel, Bruno, Odent, Sylvie, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Expanding CEP290 mutational spectrum in ciliopathies por Travaglini, Lorena, Brancati, Francesco, Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity por Thomas, Sophie, Cantagrel, Vincent, Mariani, Laura, Serre, Valérie, Lee, Ji-Eun, Elkhartoufi, Nadia, de Lonlay, Pascale, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Lyonnet, Stanislas, Vekemans, Michel, Lisgo, Steven N, Caspary, Tamara, Gleeson, Joseph, Attié-Bitach, Tania

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 por Bondurand, Nadege , Dastot-Le Moal, Florence , Stanchina, Laure , Collot, Nathalie , Baral, Viviane , Marlin, Sandrine , Attie-Bitach, Tania , Giurgea, Irina , Skopinski, Laurent , Reardon, William , Toutain, Annick , Sarda, Pierre , Echaieb, Anis , Lackmy-Port-Lis, Marilyn , Touraine, Renaud , Amiel, Jeanne , Goossens, Michel , Pingault, Veronique 

Ligazón do recurso Ligazón do recurso

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects por Poirier, Karine, Saillour, Yoann, Bahi-Buisson, Nadia, Jaglin, Xavier H., Fallet-Bianco, Catherine, Nabbout, Rima, Castelnau-Ptakhine, Laetitia, Roubertie, Agathe, Attie-Bitach, Tania, Desguerre, Isabelle, Genevieve, David, Barnerias, Christine, Keren, Boris, Lebrun, Nicolas, Boddaert, Nathalie, Encha-Razavi, Féréchté, Chelly, Jamel

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Inappropriate p53 Activation During Development Induces Features of CHARGE Syndrome por Van Nostrand, Jeanine L., Brady, Colleen A., Jung, Heiyoun, Fuentes, Daniel R., Kozak, Margaret M., Johnson, Thomas M., Lin, Chieh-Yu, Lin, Chien-Jung, Swiderski, Donald L., Vogel, Hannes, Bernstein, Jonathan A., Attié-Bitach, Tania, Chang, Ching-Pin, Wysocka, Joanna, Martin, Donna M., Attardi, Laura D.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Autosomal Recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia por Thevenon, Julien, Duplomb, Laurence, Phadke, Shubha, Eguether, Thibaut, Saunier, Aline, Avila, Magali, Carmignac, Virginie, Bruel, Ange-Line, St-Onge, Judith, Duffourd, Yannis, Pazour, Gregory J., Franco, Brunella, Attie-Bitach, Tania, Masurel-Paulet, Alice, Rivière, Jean-Baptiste, Cormier-Daire, Valérie, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel

Ligazón do recurso Ligazón do recurso Ligazón do recurso

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome por Baala, Lekbir, Romano, Stéphane, Khaddour, Rana, Saunier, Sophie, Smith, Ursula M., Audollent, Sophie, Ozilou, Catherine, Faivre, Laurence, Laurent, Nicole, Foliguet, Bernard, Munnich, Arnold, Lyonnet, Stanislas, Salomon, Rémi, Encha-Razavi, Férechté, Gubler, Marie-Claire, Boddaert, Nathalie, Lonlay, Pascale de, Johnson, Colin A., Vekemans, Michel, Antignac, Corinne, Attié-Bitach, Tania

Ligazón do recurso Ligazón do recurso

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease por de Pontual, Loïc, Zaghloul, Norann A., Thomas, Sophie, Davis, Erica E., Mcgaughey, David M., Dollfus, Hélène, Baumann, Clarisse, Bessling, Seneca L., Babarit, Candice, Pelet, Anna, Gascue, Cecilia, Beales, Philip, Munnich, Arnold, Lyonnet, Stanislas, Etchevers, Heather, Attie-Bitach, Tania, Badano, Jose L., McCallion, Andrew S., Katsanis, Nicholas, Amiel, Jeanne

Ligazón do recurso Ligazón do recurso Ligazón do recurso