Bibliotecas PUC-SP - Busca Integrada

The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype

por Manon Dobrigna, Sandrine Poëa-Guyon, Véronique Rousseau, Aline Vincent, Annick Toutain, Jean-Vianney Barnier
Publicado en Frontiers in Neuroscience (2023-03-01)

Camptocormia as a feature of Mc Ardle's disease: A case report

por Mathilde Nicolas, Chloé Giret, Sybille Pellieux, Annick Toutain, Anne-Marie Bergemer-Fouquet, Pascal Laforêt, Loic Bouilleau, François Maillot
Publicado en Molecular Genetics and Metabolism Reports (2025-03-01)

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.

por 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 Verloes
Publicado en PLoS ONE (2012-01-01)

Executive functioning in adolescents and adults with Silver-Russell syndrome.

por Mélissa Burgevin, Agnès Lacroix, Fanny Ollivier, Karine Bourdet, Régis Coutant, Bruno Donadille, Laurence Faivre, Sylvie Manouvrier-Hanu, Florence Petit, Christel Thauvin-Robinet, Annick Toutain, Irène Netchine, Sylvie Odent
Publicado en PLoS ONE (2023-01-01)

Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects

por Manon Dobrigna, Sandrine Poëa-Guyon, Mathieu Legras, Delphine Le Verger, Kevin Duarte, Catherine Sébrié, Roseline Poirier, Sylvie Granon, Serge Marty, Annick Toutain, Glenn Dallérac, Cyrille Vaillend, Jean-Vianney Barnier
Publicado en Neurobiology of Disease (2025-12-01)

Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis

por Aurélien Palmyre, Fairouz Koraichi, Flavie Ader, Erwan Donal, Céline Bordet, Pascal de Groote, Laurence Faivre, Patricia Reant, Annick Toutain, Karine Nguyen, Bertrand Isidor, Anne-Claire Brehin, Lise Legrand, Estelle Gandjbakhch, Julie Proukhnitzky, Richard Isnard, Nicolas Mansencal, Jean-François Pruny, Jean-Pierre Rabes, Bruno Francou, Catherine Caillaud, Pascale Richard, Philippe Charron
Publicado en Orphanet Journal of Rare Diseases (2025-06-01)

Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

por Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attie-Bitach, Thomas Bongibault, Thomas Bouygues, Valérie Cormier-Daire, Pierre Corre, Klaus Dieterich, Maxime Douillet, Jean Feydy, Eva Galliani, Fabienne Giuliano, Stanislas Lyonnet, Arnaud Picard, Thantrira Porntaveetus, Marlène Rio, Flavien Rouxel, Vorasuk Shotelersuk, Annick Toutain, Kevin Yauy, David Geneviève, Roman H. Khonsari, Nicolas Garcelon
Publicado en Scientific Reports (2024-01-01)

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort

por Nancy Vegas, Marlène Rio, Pauline Adnot, Véronique Soupre, Florence Petit, Jamal Ghoumid, Annick Toutain, Klaus Dieterich, Isabelle Marey, Brigitte Gilbert-Dussardier, Gwenaël Le Guyader, Christine Francannet, Elise Schaefer, Laurence Perrin, Mathilde Nizon, Claire Beneteau, David Genevieve, Marjolaine Willems, Laurence Faivre, Marianne Grimaldi, Judith Melki, Radka Stoeva, Audrey Putoux, Linda Pons, Karelle Benistan, Jeanne Amiel, Véronique Abadie
Publicado en Orphanet Journal of Rare Diseases (2025-06-01)

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.

por Aurore Curie, Amandine Brun, Anne Cheylus, Anne Reboul, Tatjana Nazir, Gérald Bussy, Karine Delange, Yves Paulignan, Sandra Mercier, Albert David, Stéphanie Marignier, Lydie Merle, Bénédicte de Fréminville, Fabienne Prieur, Michel Till, Isabelle Mortemousque, Annick Toutain, Eric Bieth, Renaud Touraine, Damien Sanlaville, Jamel Chelly, Jian Kong, Daniel Ott, Behrouz Kassai, Nouchine Hadjikhani, Randy L Gollub, Vincent des Portes
Publicado en PLoS ONE (2016-01-01)

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

por Justine Lerat, Corinne Magdelaine, Anne‐Françoise Roux, Léa Darnaud, Hélène Beauvais‐Dzugan, Steven Naud, Laurence Richard, Paco Derouault, Karima Ghorab, Laurent Magy, Jean‐Michel Vallat, Pascal Cintas, Eric Bieth, Marie‐Christine Arne‐Bes, Cyril Goizet, Caroline Espil‐Taris, Hubert Journel, Annick Toutain, Jon Andoni Urtizberea, Odile Boespflug‐Tanguy, Fanny Laffargue, Philippe Corcia, Laurent Pasquier, Mélanie Fradin, Sylva Napuri, Jonathan Ciron, Jean‐Marc Boulesteix, Franck Sturtz, Anne‐Sophie Lia
Publicado en Molecular Genetics & Genomic Medicine (2019-09-01)

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

por Céline Bordet, Sandrine Brice, Carole Maupain, Estelle Gandjbakhch, Bertrand Isidor, Aurélien Palmyre, Alexandre Moerman, Annick Toutain, Linda Akloul, Anne-Claire Brehin, Caroline Sawka, Caroline Rooryck-Thambo, Elise Schaefer, Karine Nguyen, Delphine Dupin Deguine, Cécile Rouzier, Gipsy Billy, Krystelle Séné, Isabelle Denjoy, Bruno Leheup, Marc Planes, Jean-Michael Mazzella, Stéphanie Staraci, Mélanie Hebert, Elsa Le Boette, Claire-Cécile Michon, Marie-Lise Babonneau, Angélique Curjol, Amine Bekhechi, Rafik Mansouri, Ibticem Raji, Jean-François Pruny, Véronique Fressart, Flavie Ader, Pascale Richard, Sophie Tezenas du Montcel, Marcela Gargiulo, Philippe Charron
Publicado en Journal of Clinical Medicine (2020-05-01)

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

por Agnes Bloch-Zupan, Agnes Bloch-Zupan, Agnes Bloch-Zupan, Agnes Bloch-Zupan, Agnes Bloch-Zupan, Tristan Rey, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, O-Rare consortium, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Béatrice Thivichon-Prince, ERN Cranio Consortium, Tatjana Dostalova, Milan Macek, International Consortium, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Isaac Maximiliano Bugueno, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter, Virginie Laugel-Haushalter, Virginie Laugel-Haushalter, Yves Alembik, Victorin Ahossi, Isabelle Bailleul-Forestier, Isabelle Blanchet, Ariane Berdal, Marie José Boileau, Nicolas Chassaing, François Clauss, Caroline Delfosse, Anne De-Saint-Martin, Jean-Christophe Dahlet, Bérénice Doray, Jean-Luc Davideau, Tiphaine Davit-Béal, Hélène Dollfus, Jean-Pierre Duprez, Muriel de La Dure Molla, Klauss Dieterich, Dominique Droz, Salima El Chehadeh, Olivier Etienne, Edouard Euvrard, Laurence Faivre, Benjamin Fournier, Elsa Garot, Bruno Grollemund, Nathalie Guffon-Fouilhoux, Magali Hernandez, Mathilde Huckert, Bertand Isidor, Clara Joseph-Beaudin, Sophie Jung, Didier Lacombe, Alinoe Lavillaurex, Marine Lebrun, Bruno Leheup, Adeline Loing, Serena Lopez, Sandrine Marlin, Jean-Jacques Morrier, Michèle Muller-Bolla, Emmanuelle Noirrit, Sylvie Odent, Marie Paule Gelle, Juliette Piard, Linda Pons, Béatrice Richard, Massimiliano Rossi, Prune Sadones, Elise Schaefer, Jean-Louis Sixou, Sylvie Soskin, Marion Strub, Corinne Tardieu, Béatrice Thivichon-Prince, Annick Toutain, Alain Verloes, Frédéric Vaysse, Delphine Wagner
Publicado en Frontiers in Physiology (2023-05-01)