Search Results - Annick Toutain

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  1. 1
    Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening

    Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening by Marie‐Pierre Moizard, Annick Toutain, Delphine Fournier, Françoise Berret, Martine Raynaud, C. Billard, Christian Andrés, Claude Moraine

    Published 2000
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  2. 2
    Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

    Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10 by Cyril Goizet, Amir Boukhris, Emeline Mundwiller, Chantal Tallaksen, Sylvie Forlani, Annick Toutain, Nathalie Carrière, V. Paquis, Christel Depienne, Alexandra Dürr, Giovanni Stévanin, Alexis Brice

    Published 2008
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  3. 3
    A rare<i>SMN2</i>variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

    A rare<i>SMN2</i>variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy by Myriam Vézain, Pascale Saugier‐Veber, Elisa Goina, Renaud Touraine, V. Manel, Annick Toutain, Séverine Fehrenbach, Thierry Frébourg, Franco Pagani, Mario Tosi, Alexandra Martins

    Published 2009
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  4. 4
    Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

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

    Published 2012
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  5. 5
    Congenital Glutamine Deficiency with Glutamine Synthetase Mutations

    Congenital Glutamine Deficiency with Glutamine Synthetase Mutations by Johannes Häberle, Boris Görg, Frank Rutsch, Éva Schmidt, Annick Toutain, Jean‐François Benoist, A. Gélot, Annie‐Laure Suc, Wolfgang Höhne, Freimut Schliess, Dieter Häussinger, Hans Georg Koch

    Published 2005
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  6. 6
    Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

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

    Published 2008
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  7. 7
    Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion

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

    Published 2012
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  8. 8
    Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

    Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling by Valérie Pelletier, Marguerite Jambou, Nathalie Delphin, Elena Zinovieva, Morgane Stum, Nadine Gigarel, Hélène Dollfus, Christian Hamel, Annick Toutain, Jean‐Louis Dufier, Olivier Roche, Arnold Münnich, Jean‐Paul Bonnefont, Josseline Kaplan, Jean‐Michel Rozet

    Published 2006
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  9. 9
    Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

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

    Published 2016
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  10. 10
    Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures

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

    Published 2001
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  11. 11
    Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

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

    Published 2015
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  12. 12
    Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

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

    Published 2007
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  13. 13
    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome

    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome by Caroline Nava, Nadine Hanna, Caroline Michot, Sérgio L. Pereira, Nathalie Pouvreau, Tetsuya Niihori, Yasuhiro Aoki, Yoichi Matsubara, Benoı̂t Arveiler, Didier Lacombe, Éric Pasmant, B. Parfait, Clarisse Baumann, Delphine Héron, S. Sigaudy, Annick Toutain, Marlène Rio, Alice Goldenberg, Bruno Leheup, Alain Verloès, Hélène Cavé

    Published 2007
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  14. 14
    Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations

    Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations by Judith Calvo, Benoît Funalot, Robert Ouvrier, Leïla Lazaro, Annick Toutain, P. De Mas, P. Bouché, Brigitte Gilbert‐Dussardier, Marie‐Christine Arné‐Bes, Jean-Pierre Carrière, Hubert Journel, Marie-Christine Minot-Myhié, Claire Le Guillou, Karima Ghorab, Laurent Magy, Franck Sturtz, Jean‐Michel Vallat, Corinne Magdelaine

    Published 2009
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  15. 15
    Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

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

    Published 2013
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  16. 16
    12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

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

    Published 2012
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  17. 17
    Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

    Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression by F. Daoud, Nathalie Angeard, B. Demerre, I. Martie, Rabah Ben Yaou, France Leturcq, Mireille Cossée, Nathalie Deburgrave, Yoann Saillour, Sylvie Tuffery‐Giraud, Andoni Urtizberea, Annick Toutain, Bernard Échenne, M. Frischman, M. Mayer, Isabelle Desguerre, B. Estournet, Christian Réveillère, Penisson-Besnier, J. Cuisset, Josseline Kaplan, D. Héron, François Rivier, Jamel Chelly

    Published 2009
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  18. 18
    Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

    Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly by Élise Schaefer, Ariane Zaloszyc, Julia Lauer, M. Durand, Fanny Stutzmann, Y. Perdomo-Trujillo, Claire Redin, V. Bennouna Greene, Annick Toutain, Laurence Perrin, Marion Gérard, Sophie Caillard, Xiaoshu Bei, Richard A. Lewis, D Christmann, J. Letsch, M. Kribs, Catherine Schmidt‐Mutter, Jean Muller, Corinne Stoetzel, Michel Fischbach, Vincent Marion, Nicholas Katsanis, Hélène Dollfus

    Published 2010
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  19. 19
    Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

    Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia by F. Clot, David Grabli, C. Cazeneuve, Emmanuel Roze, Pierre Castelnau, B. Chabrol, P. Landrieu, Karine Nguyen, G Ponsot, Myriem Abada, Diane Doummar, Philippe Damier, R. Gil, Stéphane Thobois, Alana Ward, Michael Hutchinson, Annick Toutain, Fabienne Picard, A. Camuzat, Estelle Fédirko, Chann San, Delphine Bouteiller, Eric LeGuern, Alexandra Dürr, Marie Vidailhet, Alexis Brice

    Published 2009
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  20. 20
    Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

    Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome by Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attié‐Bitach, Thomas Bongibault, Thomas Bouygues, Valérie Cormier‐Daire, Pierre Corre, Klaus Dieterich, Maxime Douillet, Jean Feydy, E. Galliani, Fabienne Giuliano, Stanislas Lyonnet, Arnaud Picard, Thantrira Porntaveetus, Marlène Rio, Flavien Rouxel, Vorasuk Shotelersuk, Annick Toutain, Kévin Yauy, David Geneviève, Roman Hossein Khonsari, Nicolas Garcelon

    Published 2024
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