Search Results - "Devillard, Françoise"

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments by Leblond, Claire S, Nava, Caroline, Polge, Anne, Gauthier, Julie, Huguet, Guillaume, Lumbroso, Serge, Giuliano, Fabienne, Stordeur, Coline, Depienne, Christel, Mouzat, Kevin, Pinto, Dalila, Howe, Jennifer, Lemière, Nathalie, Durand, Christelle M, Guibert, Jessica, Ey, Elodie, Toro, Roberto, Peyre, Hugo, Mathieu, Alexandre, Amsellem, Frédérique, Rastam, Maria, Gillberg, I Carina, Rappold, Gudrun A, Holt, Richard, Monaco, Anthony P, Maestrini, Elena, Galan, Pilar, Heron, Delphine, Jacquette, Aurélia, Afenjar, Alexandra, Rastetter, Agnès, Brice, Alexis, Devillard, Françoise, Assouline, Brigitte, Laffargue, Fanny, Lespinasse, James, Chiesa, Jean, Rivier, François, Bonneau, Dominique, Regnault, Beatrice, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Sanlaville, Damien, Schluth-Bolard, Caroline, Edery, Patrick, Perrin, Laurence, Tabet, Anne Claude, Schmeisser, Michael J, Boeckers, Tobias M, Coleman, Mary, Sato, Daisuke, Szatmari, Peter, Scherer, Stephen W, Rouleau, Guy A, Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Delorme, Richard, Bourgeron, Thomas

“…SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on…”
Get full text

Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection by Wambergue, Clémentine, Zouari, Raoudha, Fourati Ben Mustapha, Selima, Martinez, Guillaume, Devillard, Françoise, Hennebicq, Sylviane, Satre, Véronique, Brouillet, Sophie, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Amblard, Florence, Arnoult, Christophe, Ray, Pierre F., Coutton, Charles

“…Abstract STUDY QUESTION Does DNAH1 status influence intracytoplasmic sperm injection (ICSI) outcomes for patients with multiple morphological abnormalities of…”
Get full text

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients by Bertacchi, Michele, Romano, Anna Lisa, Loubat, Agnès, Tran Mau‐Them, Frederic, Willems, Marjolaine, Faivre, Laurence, Khau van Kien, Philippe, Perrin, Laurence, Devillard, Françoise, Sorlin, Arthur, Kuentz, Paul, Philippe, Christophe, Garde, Aurore, Neri, Francesco, Di Giaimo, Rossella, Oliviero, Salvatore, Cappello, Silvia, D'Incerti, Ludovico, Frassoni, Carolina, Studer, Michèle

“…The relationships between impaired cortical development and consequent malformations in neurodevelopmental disorders, as well as the genes implicated in these…”
Get full text

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders by Leblond, Claire S, Heinrich, Jutta, Delorme, Richard, Proepper, Christian, Betancur, Catalina, Huguet, Guillaume, Konyukh, Marina, Chaste, Pauline, Ey, Elodie, Rastam, Maria, Anckarsäter, Henrik, Nygren, Gudrun, Gillberg, I Carina, Melke, Jonas, Toro, Roberto, Regnault, Beatrice, Fauchereau, Fabien, Mercati, Oriane, Lemière, Nathalie, Skuse, David, Poot, Martin, Holt, Richard, Monaco, Anthony P, Järvelä, Irma, Kantojärvi, Katri, Vanhala, Raija, Curran, Sarah, Collier, David A, Bolton, Patrick, Chiocchetti, Andreas, Klauck, Sabine M, Poustka, Fritz, Freitag, Christine M, Waltes, Regina, Kopp, Marnie, Duketis, Eftichia, Bacchelli, Elena, Minopoli, Fiorella, Ruta, Liliana, Battaglia, Agatino, Mazzone, Luigi, Maestrini, Elena, Sequeira, Ana F, Oliveira, Barbara, Vicente, Astrid, Oliveira, Guiomar, Pinto, Dalila, Scherer, Stephen W, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Bonneau, Dominique, Guinchat, Vincent, Devillard, Françoise, Assouline, Brigitte, Mouren, Marie-Christine, Leboyer, Marion, Gillberg, Christopher, Boeckers, Tobias M, Bourgeron, Thomas

“…Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in…”
Get full text

Familial KCNQ2 mutation: a psychiatric perspective by Iftimovici, Anton, Charmet, Angeline, Desnous, Béatrice, Ory, Ana, Delorme, Richard, Coutton, Charles, Devillard, Françoise, Milh, Mathieu, Maruani, Anna

“…KCNQ2 mutations are a common cause of early-onset epileptic syndromes. They are associated with heterogeneous developmental profiles, from mild to severe…”
Get full text

Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry by Del Llano, Edgar, Perrin, Aurore, Morel, Frédéric, Devillard, Françoise, Harbuz, Radu, Satre, Véronique, Amblard, Florence, Bidart, Marie, Hennebicq, Sylviane, Brouillet, Sophie, Ray, Pierre F, Coutton, Charles, Martinez, Guillaume

“…Reciprocal translocation (RT) carriers produce a proportion of unbalanced gametes that expose them to a higher risk of infertility, recurrent miscarriage, and…”
Get full text

Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis by Ghesh, Leïla, Désir, Julie, Haye, Damien, Le Tanno, Pauline, Devillard, Françoise, Cogné, Benjamin, Marangoni, Martina, Tecco, Laura, Heron, Delphine, Le Vaillant, Claudine, Joubert, Madeleine, Beneteau, Claire

“…Hydrops fetalis is a rare disorder associated with significant perinatal complications and a high perinatal mortality of at least 50%. Nonimmune hydrops…”
Get full text

Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia by Riant, Florence, Burglen, Lydie, Corpechot, Michaelle, Robert, Julien, Durr, Alexandra, Solé, Guilhem, Petit, Florence, Freihuber, Cécile, De Marco, Olivier, Sarret, Catherine, Castelnovo, Giovanni, Devillard, Françoise, Afenjar, Alexandra, Héron, Bénédicte, Lasserve, Elisabeth Tournier

“…Loss of function variants in CACNA1A cause a broad spectrum of neurological disorders, including episodic ataxia, congenital or progressive ataxias, epileptic…”
Get full text

Phase advance of circadian rhythms in Smith–Magenis syndrome: A case study in an adult man by Kocher, Laurence, Brun, Jocelyne, Devillard, Françoise, Azabou, Eric, Claustrat, Bruno

“…•An adult with Smith–Magenis syndrome displayed a phenotype of phase-advance.•Sleep–wake cycle was phase-advanced.•The plasma melatonin profile was…”
Get full text

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression by Bonati, Maria Teresa, Castronovo, Chiara, Sironi, Alessandra, Zimbalatti, Dario, Bestetti, Ilaria, Crippa, Milena, Novelli, Antonio, Loddo, Sara, Dentici, Maria Lisa, Taylor, Juliet, Devillard, Françoise, Larizza, Lidia, Finelli, Palma

“…Both copy number losses and gains occur within subtelomeric 9q34 region without common breakpoints. The microdeletions cause Kleefstra syndrome (KS), whose…”
Get full text

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum by Whalen, Sandra, Héron, Delphine, Gaillon, Thierry, Moldovan, Oana, Rossi, Massimiliano, Devillard, Françoise, Giuliano, Fabienne, Soares, Gabriela, Mathieu-Dramard, Michelle, Afenjar, Alexandra, Charles, Perrine, Mignot, Cyril, Burglen, Lydie, Van Maldergem, Lionel, Piard, Juliette, Aftimos, Salim, Mancini, Grazia, Dias, Patricia, Philip, Nicole, Goldenberg, Alice, Le Merrer, Martine, Rio, Marlène, Josifova, Dragana, Van Hagen, Johanna Maria, Lacombe, Didier, Edery, Patrick, Dupuis-Girod, Sophie, Putoux, Audrey, Sanlaville, Damien, Fischer, Richard, Drévillon, Loïc, Briand-Suleau, Audrey, Metay, Corinne, Goossens, Michel, Amiel, Jeanne, Jacquette, Aurelia, Giurgea, Irina

“…Pitt–Hopkins syndrome (PTHS), characterized by severe intellectual disability and typical facial gestalt, is part of the clinical spectrum of Rett‐like…”
Get full text

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction by Petre, Graciane, Lorès, Patrick, Sartelet, Hervé, Truffot, Aurélie, Poreau, Brice, Brandeis, Sandrine, Martinez, Guillaume, Satre, Véronique, Harbuz, Radu, Ray, Pierre F., Amblard, Florence, Devillard, Françoise, Vieville, Gaëlle, Berger, Francois, Jouk, Pierre‐Simon, Vaiman, Daniel, Touré, Aminata, Coutton, Charles, Bidart, Marie

“…We report findings from a male fetus of 26 weeks' gestational age with severe isolated intrauterine growth restriction (IUGR). Chromosomal microarray analysis…”
Get full text

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features by Bidart, Marie, El Atifi, Michèle, Miladi, Sarra, Rendu, John, Satre, Véronique, Ray, Pierre F., Bosson, Caroline, Devillard, Françoise, Lehalle, Daphné, Malan, Valérie, Amiel, Jeanne, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Renieri, Alessandra, Clayton-Smith, Jill, Vieville, Gaëlle, Thevenon, Julien, Amblard, Florence, Berger, François, Jouk, Pierre-Simon, Coutton, Charles

“…Purpose: To determine whether duplication of the ARID1A gene is responsible for a new recognizable syndrome. Methods: We describe four patients with a 1p36.11…”
Get full text

Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature by Lamotte, Anna, Martinez, Guillaume, Devillard, Françoise, Hograindleur, Jean-Pascal, Satre, Véronique, Coutton, Charles, Harbuz, Radu, Amblard, Florence, Lespinasse, James, Benchaib, Mehdi, Bessonnat, Julien, Brouillet, Sophie, Hennebicq, Sylviane

“…Robertsonian translocations (RobT) are common structural chromosome rearrangements where carriers display a majority of chromosomally balanced spermatozoa from…”
Get full text

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder by Tabet, Anne-Claude, Verloes, Alain, Pilorge, Marion, Delaby, Elsa, Delorme, Richard, Nygren, Gudrun, Devillard, Françoise, Gérard, Marion, Passemard, Sandrine, Héron, Delphine, Siffroi, Jean-Pierre, Jacquette, Aurelia, Delahaye, Andrée, Perrin, Laurence, Dupont, Céline, Aboura, Azzedine, Bitoun, Pierre, Coleman, Mary, Leboyer, Marion, Gillberg, Christopher, Benzacken, Brigitte, Betancur, Catalina

“…Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder…”
Get full text

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies by Bosson, Caroline, Devillard, Françoise, Satre, Véronique, Dieterich, Klaus, Ray, Pierre F., Morand, Béatrice, Dubois-Teklali, Fanny, Vieville, Gaëlle, Andrieux, Joris, Brouillet, Sophie, Amblard, Florence, Jouk, Pierre-Simon, Coutton, Charles

“…Several studies have recently reported that 22q12.1 deletions encompassing the MN1 gene are associated with craniofacial anomalies. These observations are…”
Get full text

13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia by Poreau, Brice, Lin, Stéphanie, Bosson, Caroline, Dieterich, Klaus, Satre, Véronique, Devillard, Françoise, Guigue, Virginie, Ronin, Candice, Brouillet, Sophie, Barbier, Christophe, Jouk, Pierre-Simon, Coutton, Charles

“…Abstract We report on a female fetus with macrocephaly and macroglossia harbouring 13q31.1 microdeletion encompassing three genes: SPRY2 , NDFIP2 and RBM26 …”
Get full text

Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring by Nadeau, Gwenaël, Coutton, Charles, Amblard, Florence, Michalowicz, Gabrielle, Frasca, Sylvie, Fertin, Arnold, Devillard, Françoise, Satre, Véronique, Usson, Yves, Jouk, Pierre-Simon

Get more information

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism by 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

“…We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at…”
Get full text

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients by Thomas, Hortense, Alix, Tom, Renard, Émeline, Renaud, Mathilde, Wourms, Justine, Zuily, Stéphane, Leheup, Bruno, Geneviève, David, Dreumont, Natacha, Schmitt, Emmanuelle, Bronner, Myriam, Muller, Marc, Divoux, Marion, Wandzel, Marion, Ravel, Jean-Marie, Dexheimer, Mylène, Becker, Aurélie, Roth, Virginie, Willems, Marjolaine, Coubes, Christine, Vieville, Gaëlle, Devillard, Françoise, Schaefer, Élise, Baer, Sarah, Piton, Amélie, Gérard, Bénédicte, Vincent, Marie, Nizon, Mathilde, Cogné, Benjamin, Ruaud, Lyse, Couque, Nathalie, Putoux, Audrey, Edery, Patrick, Lesca, Gaëtan, Chatron, Nicolas, Till, Marianne, Faivre, Laurence, Tran-Mau-Them, Frédéric, Alessandri, Jean-Luc, Lebrun, Marine, Quélin, Chloé, Odent, Sylvie, Dubourg, Christèle, David, Véronique, Faoucher, Marie, Mignot, Cyril, Keren, Boris, Pisan, Élise, Afenjar, Alexandra, Julia, Sophie, Bieth, Éric, Banneau, Guillaume, Goldenberg, Alice, Husson, Thomas, Campion, Dominique, Lecoquierre, François, Nicolas, Gaël, Charbonnier, Camille, De Saint Martin, Anne, Naudion, Sophie, Degoutin, Manon, Rondeau, Sophie, Michot, Caroline, Cormier-Daire, Valérie, Oussalah, Abderrahim, Pourié, Carine, Lambert, Laëtitia, Bonnet, Céline

“…Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ( )-overgrowth syndrome (DOS), was first described by…”
Get more information