Search Results - "Perrin, Laurence"

Olfactory bulb anomalies in KBG syndrome mouse model and patients by Goodkey, Kara, Wischmeijer, Anita, Perrin, Laurence, Watson, Adrianne E S, Qureshi, Leenah, Cordelli, Duccio Maria, Toni, Francesco, Gnazzo, Maria, Benedicenti, Francesco, Elmaleh-Bergès, Monique, Low, Karen J, Voronova, Anastassia

“…ANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental disorder. We have…”
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Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients by Goodkey, Kara, Wischmeijer, Anita, Perrin, Laurence, Watson, Adrianne E S, Qureshi, Leenah, Cordelli, Duccio Maria, Toni, Francesco, Gnazzo, Maria, Benedicenti, Francesco, Elmaleh-Berges, Monique, Low, Karen J, Voronova, Anastassia

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Evaluating the impact of food labeling in a vocational school: an open prospective pilot study by Galtier, Damien, Daclin, Clémence, Perrin, Laurence, Montagni, Ilaria

“…Background: In October 2017, France adopted the Nutri-Score label as the official food label to display on industrial food packaging. School mass catering is…”
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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome by Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T, Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J, Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W, Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna

“…Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component…”
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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis by Mary, Laura, Piton, Amélie, Schaefer, Elise, Mattioli, Francesca, Nourisson, Elsa, Feger, Claire, Redin, Claire, Barth, Magali, El Chehadeh, Salima, Colin, Estelle, Coubes, Christine, Faivre, Laurence, Flori, Elisabeth, Geneviève, David, Capri, Yline, Perrin, Laurence, Fabre-Teste, Jennifer, Timbolschi, Dana, Verloes, Alain, Olaso, Robert, Boland, Anne, Deleuze, Jean-François, Mandel, Jean-Louis, Gerard, Bénédicte, Giurgea, Irina

“…High-throughput sequencing (HTS) of human genome coding regions allows the simultaneous screen of a large number of genes, significantly improving the…”
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Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases by Al Ageeli, Essam, Drunat, Séverine, Delanoë, Catherine, Perrin, Laurence, Baumann, Clarisse, Capri, Yline, Fabre-Teste, Jennifer, Aboura, Azzedine, Dupont, Céline, Auvin, Stéphane, El Khattabi, Laila, Chantereau, Dominique, Moncla, Anne, Tabet, Anne-Claude, Verloes, Alain

“…Abstract Background 15q11-q13 region is an area of well-known susceptibility to genomic rearrangements, in which several breakpoints have been identified…”
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Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling by Moreno-Corona, Nidia, Chentout, Loïc, Poggi, Lucie, Thouenon, Romane, Masson, Cecile, Parisot, Melanie, Mouel, Lou Le, Picard, Capucine, André, Isabelle, Cavazzana, Marina, Perrin, Laurence, Durandy, Anne, Azarnoush, Saba, Kracker, Sven

“…Activated PI3-kinase-δ syndrome 2 (APDS2) is caused by autosomal dominant mutations in the gene encoding the p85α, p55α, and p50α regulatory subunits. Most…”
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Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes by Doco-Fenzy, Martine, Leroy, Camille, Schneider, Anouck, Petit, Florence, Delrue, Marie-Ange, Andrieux, Joris, Perrin-Sabourin, Laurence, Landais, Emilie, Aboura, Azzedine, Puechberty, Jacques, Girard, Manon, Tournaire, Magali, Sanchez, Elodie, Rooryck, Caroline, Ameil, Agnès, Goossens, Michel, Jonveaux, Philippe, Lefort, Geneviève, Taine, Laurence, Cailley, Dorothée, Gaillard, Dominique, Leheup, Bruno, Sarda, Pierre, Geneviève, David

“…Obesity is a common but highly, clinically, and genetically heterogeneous disease. Deletion of the terminal region of the short arm of chromosome 2 is rare and…”
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Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1 : Four additional patients by Schiff, Manuel, Delahaye, Andrée, Andrieux, Joris, Sanlaville, Damien, Vincent-Delorme, Catherine, Aboura, Azzedine, Benzacken, Brigitte, Bouquillon, Sonia, Elmaleh-Berges, Monique, Labalme, Audrey, Passemard, Sandrine, Perrin, Laurence, Manouvrier-Hanu, Sylvie, Edery, Patrick, Verloes, Alain, Drunat, Séverine

“…Abstract Background The 17p13.3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial…”
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Craniosynostosis: A rare complication of pycnodysostosis by Osimani, Sara, Husson, Isabelle, Passemard, Sandrine, Elmaleh, Monique, Perrin, Laurence, Quelin, Chloé, Marey, Isabelle, Delalande, Olivier, Filocamo, Mirella, Verloes, Alain

“…Abstract Uncommon features of rare genetic disorders are often poorly known, as the likelihood of having them reported is low. We describe a 7-year-old boy…”
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Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria by Chevrollier, Arnaud, Bonnard, Adeline Alice, Ruaud, Lyse, Gueguen, Naïg, Perrin, Laurence, Desquiret-Dumas, Valérie, Guimiot, Fabien, Becker, Pierre-Hadrien, Levy, Jonathan, Reynier, Pascal, Gaignard, Pauline

“…Pathogenic variants in the MFN2 gene are commonly associated with autosomal dominant (CMT2A2A) or recessive (CMT2A2B) Charcot-Marie-Tooth disease, with…”
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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…”
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Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria by Chevrollier, Arnaud, Bonnard, Adeline Alice, Ruaud, Lyse, Gueguen, Naïg, Perrin, Laurence, Desquiret-Dumas, Valérie, Guimiot, Fabien, Becker, Pierre-Hadrien, Levy, Jonathan, Reynier, Pascal, Gaignard, Pauline

“…Pathogenic variants in the MFN2 gene are commonly associated with autosomal dominant (CMT2A2A) or recessive (CMT2A2B) Charcot-Marie-Tooth disease, with…”
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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…”
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Using Positive Nudge to Promote Healthy Eating at Worksite: A Food Labeling Intervention by Montagni, Ilaria, Prevot, Frédéric, Castro, Zoila, Goubel, Baptiste, Perrin, Laurence, Oppert, Jean-Michel, Fontvieille, Anne-Marie

“…OBJECTIVE:To assess the effect and transferability of a workplace food labeling intervention. METHODS:Employees’ purchase of food items in cafeterias of an…”
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PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects by Berland, Aurélie, Rosain, Jérémie, Kaltenbach, Sophie, Allain, Vincent, Mahlaoui, Nizar, Melki, Isabelle, Fievet, Alice, Dubois d'Enghien, Catherine, Ouachée-Chardin, Marie, Perrin, Laurence, Auger, Nathalie, Cipe, Funda Erol, Finocchi, Andrea, Dogu, Figen, Suarez, Felipe, Moshous, Despina, Leblanc, Thierry, Belot, Alexandre, Fieschi, Claire, Boutboul, David, Malphettes, Marion, Galicier, Lionel, Oksenhendler, Eric, Blanche, Stéphane, Fischer, Alain, Revy, Patrick, Stoppa-Lyonnet, Dominique, Picard, Capucine, de Villartay, Jean-Pierre

“…V(D)J recombination ensures the diversity of the adaptive immune system. Although its complete defect causes severe combined immunodeficiency (ie, T−B− severe…”
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Severe neonatal hypertension revealing arterial tortuosity syndrome by de Marcellus, Charles, Baudouin, Véronique, Tanase, Anca, Monet, Catherine, Perrin, Laurence, Deschenes, Georges, Hogan, Julien

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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders by Stessman, Holly A.F., Willemsen, Marjolein H., Fenckova, Michaela, Penn, Osnat, Hoischen, Alexander, Xiong, Bo, Wang, Tianyun, Hoekzema, Kendra, Vives, Laura, Vogel, Ida, Brunner, Han G., van der Burgt, Ineke, Ockeloen, Charlotte W., Schuurs-Hoeijmakers, Janneke H., Klein Wassink-Ruiter, Jolien S., Stumpel, Connie, Stevens, Servi J.C., Vles, Hans S., Marcelis, Carlo M., van Bokhoven, Hans, Cantagrel, Vincent, Colleaux, Laurence, Nicouleau, Michael, Lyonnet, Stanislas, Bernier, Raphael A., Gerdts, Jennifer, Coe, Bradley P., Romano, Corrado, Alberti, Antonino, Grillo, Lucia, Scuderi, Carmela, Nordenskjöld, Magnus, Kvarnung, Malin, Guo, Hui, Xia, Kun, Piton, Amélie, Gerard, Bénédicte, Genevieve, David, Delobel, Bruno, Lehalle, Daphne, Perrin, Laurence, Prieur, Fabienne, Thevenon, Julien, Gecz, Jozef, Shaw, Marie, Pfundt, Rolph, Keren, Boris, Jacquette, Aurelia, Schenck, Annette, Eichler, Evan E., Kleefstra, Tjitske

“…Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with…”
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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy by Assoum, Mirna, Philippe, Christophe, Isidor, Bertrand, Perrin, Laurence, Makrythanasis, Periklis, Sondheimer, Neal, Paris, Caroline, Douglas, Jessica, Lesca, Gaetan, Antonarakis, Stylianos, Hamamy, Hanan, Jouan, Thibaud, Duffourd, Yannis, Auvin, Stéphane, Saunier, Aline, Begtrup, Amber, Nowak, Catherine, Chatron, Nicolas, Ville, Dorothée, Mireskandari, Kamiar, Milani, Paolo, Jonveaux, Philippe, Lemeur, Guylène, Milh, Mathieu, Amamoto, Masano, Kato, Mitsuhiro, Nakashima, Mitsuko, Miyake, Noriko, Matsumoto, Naomichi, Masri, Amira, Thauvin-Robinet, Christel, Rivière, Jean-Baptiste, Faivre, Laurence, Thevenon, Julien

“…Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity…”
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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing by Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel

“…In clinical exome sequencing (cES), the American College of Medical Genetics and Genomics recommends limiting variant interpretation to established…”
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