Søgeresultater - Toutain, Annick

Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome af Leutenegger, Anne-Louise, Labalme, Audrey, Génin, Emmanuelle, Toutain, Annick, Steichen, Elisabeth, Clerget-Darpoux, Françoise, Edery, Patrick

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CUGC for Simpson-Golabi-Behmel syndrome (SGBS) af Vuillaume, Marie-Laure, Moizard, Marie-Pierre, Baumer, Alessandra, Cottereau, Edouard, Brioude, Frédéric, Rauch, Anita, Toutain, Annick

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Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition af Rio, Marlène, Malan, Valérie, Boissel, Sarah, Toutain, Annick, Royer, Ghislaine, Gobin, Stéphanie, Morichon-Delvallez, Nicole, Turleau, Catherine, Bonnefont, Jean-Paul, Munnich, Arnold, Vekemans, Michel, Colleaux, Laurence

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Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype af Tordjman, Sylvie, Anderson, George M., Botbol, Michel, Toutain, Annick, Sarda, Pierre, Carlier, Michèle, Saugier-Veber, Pascale, Baumann, Clarisse, Cohen, David, Lagneaux, Céline, Tabet, Anne-Claude, Verloes, Alain

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Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect af Nochez, Yannick, Arsene, Sophie, Gueguen, Naig, Chevrollier, Arnaud, Ferré, Marc, Guillet, Virginie, Desquiret, Valérie, Toutain, Annick, Bonneau, Dominique, Procaccio, Vincent, Amati-Bonneau, Patrizia, Pisella, Pierre-Jean, Reynier, Pascal

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Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion af Aldinger, Kimberly A., Kogan, Jillene, Kimonis, Virginia, Fernandez, Bridget, Horn, Denise, Klopocki, Eva, Chung, Brian, Toutain, Annick, Weksberg, Rosanna, Millen, Kathleen J., Barkovich, A. James, Dobyns, William B.

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Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases af Nelson, Isabelle, Stojkovic, Tanya, Allamand, Valérie, Leturcq, France, Bécane, Henri-Marc, Babuty, Dominique, Toutain, Annick, Béroud, Christophe, Richard, Pascale, Romero, Norma B., Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisèle

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Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance af Clayton-Smith, Jill, Walters, Sarah, Hobson, Emma, Burkitt-Wright, Emma, Smith, Rupert, Toutain, Annick, Amiel, Jeanne, Lyonnet, Stanislas, Mansour, Sahar, Fitzpatrick, David, Ciccone, Roberto, Ricca, Ivana, Zuffardi, Orsetta, Donnai, Dian

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Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis af Maluenda, Jérôme, Manso, Constance, Quevarec, Loic, Vivanti, Alexandre, Marguet, Florent, Gonzales, Marie, Guimiot, Fabien, Petit, Florence, Toutain, Annick, Whalen, Sandra, Grigorescu, Romulus, Coeslier, Anne Dieux, Gut, Marta, Gut, Ivo, Laquerrière, Annie, Devaux, Jérôme, Melki, Judith

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

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Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster af Le Caignec, Cédric, Pichon, Olivier, Briand, Annaig, de Courtivron, Benoît, Bonnard, Christian, Lindenbaum, Pierre, Redon, Richard, Schluth-Bolard, Caroline, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanchez-Castro, Marta, Vuillaume, Marie-Laure, Sanlaville, Damien, Duboule, Denis, Mégarbané, André, Toutain, Annick

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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 af 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 

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Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy af Scheidecker, Sophie, Etard, Christelle, Haren, Laurence, Stoetzel, Corinne, Hull, Sarah, Arno, Gavin, Plagnol, Vincent, Drunat, Séverine, Passemard, Sandrine, Toutain, Annick, Obringer, Cathy, Koob, Mériam, Geoffroy, Véronique, Marion, Vincent, Strähle, Uwe, Ostergaard, Pia, Verloes, Alain, Merdes, Andreas, Moore, Anthony T., Dollfus, Hélène

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New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients af Cologne, Audric, Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Campan-Fournier, Amandine, Bober, Michael B., De Die-Smulders, Christine E.M., Paulussen, Aimee D.C., Pinson, Lucile, Toutain, Annick, Roifman, Chaim M., Leutenegger, Anne-Louise, Mazoyer, Sylvie, Edery, Patrick, Lacroix, Vincent

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Cardio‐facio‐cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome af Nava, Caroline, Hanna, Nadine, Michot, Caroline, Pereira, Sabrina, Pouvreau, Nathalie, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Arveiler, Benoit, Lacombe, Didier, Pasmant, Eric, Parfait, Béatrice, Baumann, Clarisse, Héron, Delphine, Sigaudy, Sabine, Toutain, Annick, Rio, Marlène, Goldenberg, Alice, Leheup, Bruno, Verloes, Alain, Cavé, Hélène

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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder af Halewa, Judith, Marouillat, Sylviane, Dixneuf, Manon, Thépault, Rose‐Anne, Ung, Dévina C., Chatron, Nicolas, Gérard, Bénédicte, Ghoumid, Jamal, Lesca, Gaëtan, Till, Marianne, Smol, Thomas, Couque, Nathalie, Ruaud, Lyse, Chune, Valérie, Grotto, Sarah, Verloes, Alain, Vuillaume, Marie‐Laure, Toutain, Annick, Raynaud, Martine, Laumonnier, Frédéric

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Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies af Delahaye, Andrée, Bitoun, Pierre, Drunat, Séverine, Gérard-Blanluet, Marion, Chassaing, Nicolas, Toutain, Annick, Verloes, Alain, Gatelais, Frédérique, Legendre, Marie, Faivre, Laurence, Passemard, Sandrine, Aboura, Azzedine, Kaltenbach, Sophie, Quentin, Samuel, Dupont, Céline, Tabet, Anne-Claude, Amselem, Serge, Elion, Jacques, Gressens, Pierre, Pipiras, Eva, Benzacken, Brigitte

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12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech af Thevenon, Julien, Callier, Patrick, Andrieux, Joris, Delobel, Bruno, David, Albert, Sukno, Sylvie, Minot, Delphine, Mosca Anne, Laure, Marle, Nathalie, Sanlaville, Damien, Bonnet, Marlène, Masurel-Paulet, Alice, Levy, Fabienne, Gaunt, Lorraine, Farrell, Sandra, Le Caignec, Cédric, Toutain, Annick, Carmignac, Virginie, Mugneret, Francine, Clayton-Smith, Jill, Thauvin-Robinet, Christel, Faivre, Laurence

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Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age af Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle

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