Søgeresultater - Jouk, Pierre‐Simon

The Myosin Myocardial Mesh Interpreted as a Biological Analogous of Nematic Chiral Liquid Crystals † af Jouk, Pierre-Simon, Usson, Yves

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Postnatal myocardium remodelling generates inhomogeneity in the architecture of the ventricular mass af Jouk, Pierre-Simon, Truong, Ba Luu, Michalowicz, Gabrielle, Usson, Yves

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Polarized Light Imaging of the Myoarchitecture in Tetralogy of Fallot in the Perinatal Period af Truong, Ba Luu, Jouk, Pierre-Simon, Auriau, Johanne, Michalowicz, Gabrielle, Usson, Yves

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Prenatal Diagnosis of Aorto-Left Ventricular Tunnel With Dysplastic Bicuspid Aortic Valve: From Fetal Cardiac Failure to Favorable Outcome af Truong, Ba Luu, Moreau De Bellaing, Anne, Vialle, Emmanuelle, Haydar, Ayman, Vouhe, Pascal, Jouk, Pierre Simon, Blaysat, Gerard

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Stillbirth classification in population-based data and role of fetal growth restriction: the example of RECODE af Ego, Anne, Zeitlin, Jennifer, Batailler, Pierre, Cornec, Séverine, Fondeur, Anne, Baran-Marszak, Marion, Jouk, Pierre-Simon, Debillon, Thierry, Cans, Christine

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Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population af Coutton, Charles, Abada, Farid, Karaouzene, Thomas, Sanlaville, Damien, Satre, Véronique, Lunardi, Joël, Jouk, Pierre-Simon, Arnoult, Christophe, Thierry-Mieg, Nicolas, Ray, Pierre F.

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Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism af Devillard, Françoise, Guinchat, Vincent, Moreno-De-Luca, Daniel, Tabet, Anne-Claude, Gruchy, Nicolas, Guillem, Pascale, Nguyen Morel, Marie-Ange, Leporrier, Nathalie, Leboyer, Marion, Jouk, Pierre-Simon, Lespinasse, James, Betancur, Catalina

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Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders af Srivastava, Siddharth, Niranjan, Tejasvi, May, Melanie M., Tarpey, Patrick, Allen, William, Hackett, Anna, Jouk, Pierre‐Simon, Raymond, Lucy, Briault, Slyvain, Skinner, Cindy, Toutain, Annick, Gecz, Jozef, Heath, William, Stevenson, Roger E., Schwartz, Charles E., Wang, Tao

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Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella af Ben Khelifa, Mariem, Coutton, Charles, Zouari, Raoudha, Karaouzène, Thomas, Rendu, John, Bidart, Marie, Yassine, Sandra, Pierre, Virginie, Delaroche, Julie, Hennebicq, Sylviane, Grunwald, Didier, Escalier, Denise, Pernet-Gallay, Karine, Jouk, Pierre-Simon, Thierry-Mieg, Nicolas, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F.

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CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays af Legendre, Marine, Rodriguez - Ballesteros, Montserrat, Rossi, Massimiliano, Abadie, Véronique, Amiel, Jeanne, Revencu, Nicole, Blanchet, Patricia, Brioude, Frédéric, Delrue, Marie-Ange, Doubaj, Yassamine, Sefiani, Abdelaziz, Francannet, Christine, Holder-Espinasse, Muriel, Jouk, Pierre-Simon, Julia, Sophie, Melki, Judith, Mur, Sébastien, Naudion, Sophie, Fabre-Teste, Jennifer, Busa, Tiffany, Stamm, Stephen, Lyonnet, Stanislas, Attie-Bitach, Tania, Kitzis, Alain, Gilbert-Dussardier, Brigitte, Bilan, Frédéric

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A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation af Harbuz, Radu, Zouari, Raoudha, Pierre, Virginie, Ben Khelifa, Mariem, Kharouf, Mahmoud, Coutton, Charles, Merdassi, Ghaya, Abada, Farid, Escoffier, Jessica, Nikas, Yorgos, Vialard, François, Koscinski, Isabelle, Triki, Chema, Sermondade, Nathalie, Schweitzer, Thérèse, Zhioua, Amel, Zhioua, Fethi, Latrous, Habib, Halouani, Lazhar, Ouafi, Marrakchi, Makni, Mounir, Jouk, Pierre-Simon, Sèle, Bernard, Hennebicq, Sylviane, Satre, Véronique, Viville, Stéphane, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.

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9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping af Nambot, Sophie, Masurel, Alice, El Chehadeh, Salima, Mosca-Boidron, Anne-Laure, Thauvin-Robinet, Christel, Lefebvre, Mathilde, Marle, Nathalie, Thevenon, Julien, Perez-Martin, Stéphanie, Dulieu, Véronique, Huet, Frédéric, Plessis, Ghislaine, Andrieux, Joris, Jouk, Pierre-Simon, Billy-Lopez, Gipsy, Coutton, Charles, Morice-Picard, Fanny, Delrue, Marie-Ange, Heron, Delphine, Rooryck, Caroline, Goldenberg, Alice, Saugier-Veber, Pascale, Joly-Hélas, Géraldine, Calenda, Patricia, Kuentz, Paul, Manouvrier-Hanu, Sylvie, Dupuis-Girod, Sophie, Callier, Patrick, Faivre, Laurence

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Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity af Boyden, Eric D., Campos-Xavier, A. Belinda, Kalamajski, Sebastian, Cameron, Trevor L., Suarez, Philippe, Tanackovich, Goranka, Andria, Generoso, Ballhausen, Diana, Briggs, Michael D., Hartley, Claire, Cohn, Daniel H., Davidson, H. Rosemarie, Hall, Christine, Ikegawa, Shiro, Jouk, Pierre-Simon, König, Rainer, Megarbané, André, Nishimura, Gen, Lachman, Ralph S., Mortier, Geert, Rimoin, David L., Rogers, R. Curtis, Rossi, Massimiliano, Sawada, Hirotake, Scott, Richard, Unger, Sheila, Valadares, Eugenia Ribeiro, Bateman, John F., Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa

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Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity af Boyden, Eric D., Campos-Xavier, A. Belinda, Kalamajski, Sebastian, Cameron, Trevor L., Suarez, Philippe, Tanackovic, Goranka, Andria, Generoso, Ballhausen, Diana, Briggs, Michael D., Hartley, Claire, Cohn, Daniel H., Davidson, H. Rosemarie, Hall, Christine, Ikegawa, Shiro, Jouk, Pierre-Simon, König, Rainer, Megarbané, André, Nishimura, Gen, Lachman, Ralph S., Mortier, Geert, Rimoin, David L., Rogers, R. Curtis, Rossi, Massimiliano, Sawada, Hirotake, Scott, Richard, Unger, Sheila, Valadares, Eugenia Ribeiro, Bateman, John F., Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa

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Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human af Coutton, Charles, Vargas, Alexandra S., Amiri-Yekta, Amir, Kherraf, Zine-Eddine, Ben Mustapha, Selima Fourati, Le Tanno, Pauline, Wambergue-Legrand, Clémentine, Karaouzène, Thomas, Martinez, Guillaume, Crouzy, Serge, Daneshipour, Abbas, Hosseini, Seyedeh Hanieh, Mitchell, Valérie, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Deleuze, Jean-François, Boland, Anne, Hennebicq, Sylviane, Satre, Véronique, Jouk, Pierre-Simon, Thierry-Mieg, Nicolas, Conne, Beatrice, Dacheux, Denis, Landrein, Nicolas, Schmitt, Alain, Stouvenel, Laurence, Lorès, Patrick, El Khouri, Elma, Bottari, Serge P., Fauré, Julien, Wolf, Jean-Philippe, Pernet-Gallay, Karin, Escoffier, Jessica, Gourabi, Hamid, Robinson, Derrick R., Nef, Serge, Dulioust, Emmanuel, Zouari, Raoudha, Bonhivers, Mélanie, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F.

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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita af Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith

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