Inference of Diagnostic Markers and Therapeutic Targets From CSF Proteomics for the Treatment of Hydrocephalus

Por Horowitz, Arie, Saugier-Veber, Pascale, Gilard, Vianney
Publicado no Front Cell Neurosci (2020)

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly

Por Friocourt, Gaëlle, Marcorelles, Pascale, Saugier-Veber, Pascale, Quille, Marie-Lise, Marret, Stephane, Laquerrière, Annie
Publicado em 2010

Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies

Por Corral, Edgardo, Barrios, Andres, Isnard, Monica, Saugier-Veber, Pascale, Fortier, Sophie M., Durrin, Sarah, Sepulveda, Waldo
Publicado no Case Rep Obstet Gynecol (2015)

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome

Por Tordjman, Sylvie, Anderson, George M, Cohen, David, Kermarrec, Solenn, Carlier, Michèle, Touitou, Yvan, Saugier-Veber, Pascale, Lagneaux, Céline, Chevreuil, Claire, Verloes, Alain
Publicado em 2013

Refined Characterization of the Expression and Stability of the SMN Gene Products

Por Vitte, Jérémie, Fassier, Coralie, Tiziano, Francesco D., Dalard, Cécile, Soave, Sabrina, Roblot, Natacha, Brahe, Christine, Saugier-Veber, Pascale, Bonnefont, Jean Paul, Melki, Judith
Publicado em 2007

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

Por Ghoumid, Jamal, Andrieux, Joris, Sablonnière, Bernard, Odent, Sylvie, Philippe, Nathalie, Zanlonghi, Xavier, Saugier-Veber, Pascale, Bardyn, Thomas, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel
Publicado em 2011

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

Por 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
Publicado em 2012

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation

Por Dabaj, Ivana, Sudrié-Arnaud, Bénédicte, Lecoquierre, François, Raymond, Kimiyo, Ducatez, Franklin, Guerrot, Anne-Marie, Snanoudj, Sarah, Coutant, Sophie, Saugier-Veber, Pascale, Marret, Stéphane, Nicolas, Gaël, Tebani, Abdellah, Bekri, Soumeya
Publicado no Life (Basel) (2021)

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

Por Saugier-Veber, Pascale, Marguet, Florent, Lecoquierre, François, Adle-Biassette, Homa, Guimiot, Fabien, Cipriani, Sara, Patrier, Sophie, Brasseur-Daudruy, Marie, Goldenberg, Alice, Layet, Valérie, Capri, Yline, Gérard, Marion, Frébourg, Thierry, Laquerrière, Annie
Publicado no Acta Neuropathol Commun (2017)

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants

Por Gaildrat, Pascaline, Lebbah, Said, Tebani, Abdellah, Sudrié‐Arnaud, Bénédicte, Tostivint, Isabelle, Bollee, Guillaume, Tubeuf, Hélène, Charles, Thomas, Bertholet‐Thomas, Aurelia, Goldenberg, Alice, Barbey, Frederic, Martins, Alexandra, Saugier‐Veber, Pascale, Frébourg, Thierry, Knebelmann, Bertrand, Bekri, Soumeya
Publicado no Mol Genet Genomic Med (2017)

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalos...

Por Vezain, Myriam, Lecuyer, Matthieu, Rubio, Marina, Dupé, Valérie, Ratié, Leslie, David, Véronique, Pasquier, Laurent, Odent, Sylvie, Coutant, Sophie, Tournier, Isabelle, Trestard, Laetitia, Adle-Biassette, Homa, Vivien, Denis, Frébourg, Thierry, Gonzalez, Bruno J, Laquerrière, Annie, Saugier-Veber, Pascale
Publicado no Acta Neuropathol Commun (2018)

Murine MPDZ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus

Por Yang, Junning, Simonneau, Claire, Kilker, Robert, Oakley, Laura, Byrne, Matthew D, Nichtova, Zuzana, Stefanescu, Ioana, Pardeep‐Kumar, Fnu, Tripathi, Sushil, Londin, Eric, Saugier‐Veber, Pascale, Willard, Belinda, Thakur, Mathew, Pickup, Stephen, Ishikawa, Hiroshi, Schroten, Horst, Smeyne, Richard, Horowitz, Arie
Publicado no EMBO Mol Med (2018)

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce...

Por Le Meur, Nathalie, Holder-Espinasse, Muriel, Jaillard, Sylvie, Goldenberg, Alice, Joriot, Sylvie, Amati-Bonneau, Patrizia, Guichet, Agnès, Barth, Magalie, Charollais, Aude, Journel, Hubert, Auvin, Stéphane, Boucher, Cécile, Kerckaert, Jean-Pierre, David, Véronique, Manouvrier-Hanu, Sylvie, Saugier-Veber, Pascale, Frébourg, Thierry, Dubourg, Christèle, Andrieux, Joris, Bonneau, Dominique
Publicado em 2010

SUN-040 Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome: Prospective Screening of Asplenism and Pneumonitis in a Cohort of 25 Patients

Por Humbert, Linda, Dubucquoi, Sylvain, Kemp, Elizabeth, Saugier-Veber, Pascale, Fabien, Nicole, Isabelle, Raymond Top, Cardot-Bauters, Catherine, Maciejewski Cartigny, Maryse, Delemer, Brigitte, Docao, Christine, Carel, Jean-Claude, Guignat, Laurence, Kerlan, Veronique, Lefevre, Herve, Vanhove, Laura, Sendid, Boualem, Souchon, Pierre-François, Weill, Jacques, Vantyghem, Marie-Christine, Wemeau, Jean-Louis, Proust Lemoine, Emmanuelle
Publicado no J Endocr Soc (2019)

Searching for secondary findings: considering actionability and preserving the right not to know

Por Isidor, Bertrand, Julia, Sophie, Saugier-Veber, Pascale, Weil-Dubuc, Paul-Loup, Bézieau, Stéphane, Bieth, Eric, Bonnefont, Jean-Paul, Munnich, Arnold, Bourdeaut, Franck, Bourgain, Catherine, Chassaing, Nicolas, Corradini, Nadège, Haye, Damien, Plaisancie, Julie, Dupin-Deguine, Delphine, Calvas, Patrick, Mignot, Cyril, Cogné, Benjamin, Manouvrier, Sylvie, Pasquier, Laurent, Héron, Delphine, Boycott, Kym M, Turrini, Mauro, Vears, Danya F., Nizon, Mathilde, Vincent, Marie
Publicado no Eur J Hum Genet (2019)

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Por Husson, Thomas, Lecoquierre, François, Cassinari, Kevin, Charbonnier, Camille, Quenez, Olivier, Goldenberg, Alice, Guerrot, Anne-Marie, Richard, Anne-Claire, Drouin-Garraud, Valérie, Brehin, Anne-Claire, Soleimani, Maryam, Taton, Romain, Rotharmel, Maud, Rosier, Antoine, Chambon, Pascal, Le Meur, Nathalie, Joly-Helas, Géraldine, Saugier-Veber, Pascale, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Frebourg, Thierry, Nicolas, Gael, Guillin, Olivier, Campion, Dominique
Publicado no Transl Psychiatry (2020)

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

Por Guilmatre, Audrey, Dubourg, Christèle, Mosca, Anne-Laure, Legallic, Solenn, Goldenberg, Alice, Drouin-Garraud, Valérie, Layet, Valérie, Rosier, Antoine, Briault, Sylvain, Bonnet-Brilhault, Frédérique, Laumonnier, Frédéric, Odent, Sylvie, Le Vacon, Gael, Joly-Helas, Géraldine, David, Véronique, Bendavid, Claude, Pinoit, Jean-Michel, Henry, Céline, Impallomeni, Caterina, Germano, Eva, Tortorella, Gaetano, Di Rosa, Gabriella, Barthelemy, Catherine, Andres, Christian, Faivre, Laurence, Frébourg, Thierry, Saugier Veber, Pascale, Campion, Dominique
Publicado em 2009

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Por 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
Publicado no Eur J Hum Genet (2016)

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Por Quenez, Olivier, Cassinari, Kevin, Coutant, Sophie, Lecoquierre, François, Le Guennec, Kilan, Rousseau, Stéphane, Richard, Anne-Claire, Vasseur, Stéphanie, Bouvignies, Emilie, Bou, Jacqueline, Lienard, Gwendoline, Manase, Sandrine, Fourneaux, Steeve, Drouot, Nathalie, Nguyen-Viet, Virginie, Vezain, Myriam, Chambon, Pascal, Joly-Helas, Géraldine, Le Meur, Nathalie, Castelain, Mathieu, Boland, Anne, Deleuze, Jean-François, Tournier, Isabelle, Charbonnier, Françoise, Kasper, Edwige, Bougeard, Gaëlle, Frebourg, Thierry, Saugier-Veber, Pascale, Baert-Desurmont, Stéphanie, Campion, Dominique, Rovelet-Lecrux, Anne, Nicolas, Gaël
Publicado no Eur J Hum Genet (2020)

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

Por Mosca-Boidron, Anne-Laure, Gueneau, Lucie, Huguet, Guillaume, Goldenberg, Alice, Henry, Céline, Gigot, Nadège, Pallesi-Pocachard, Emilie, Falace, Antonio, Duplomb, Laurence, Thevenon, Julien, Duffourd, Yannis, ST-Onge, Judith, Chambon, Pascal, Rivière, Jean-Baptiste, Thauvin-Robinet, Christel, Callier, Patrick, Marle, Nathalie, Payet, Muriel, Ragon, Clemence, Goubran Botros, Hany, Buratti, Julien, Calderari, Sophie, Dumas, Guillaume, Delorme, Richard, Lagarde, Nathalie, Pinoit, Jean-Michel, Rosier, Antoine, Masurel-Paulet, Alice, Cardoso, Carlos, Mugneret, Francine, Saugier-Veber, Pascale, Campion, Dominique, Faivre, Laurence, Bourgeron, Thomas
Publicado no Eur J Hum Genet (2016)