Search Results - "Marie, Guerrot Anne"

De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder by Louvrier, Camille, El Khouri, Elma, Grall Lerosey, Martine, Quartier, Pierre, Guerrot, Anne‐Marie, Bader Meunier, Brigitte, Chican, Julie, Mohammad, Malaïka, Assrawi, Eman, Daskalopoulou, Aphrodite, Arenas Garcia, Angela, Copin, Bruno, Piterboth, William, Dastot Le Moal, Florence, Karabina, Sonia A., Amselem, Serge, Giurgea, Irina

“…Objective To identify the molecular basis of a severe systemic autoinflammatory disorder (SAID) and define its main phenotypic features, and to functionally…”
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Lessons learned from 40 novel PIGA patients and a review of the literature by Bayat, Allan, Knaus, Alexej, Pendziwiat, Manuela, Afenjar, Alexandra, Barakat, Tahsin Stefan, Bosch, Friedrich, Callewaert, Bert, Calvas, Patrick, Ceulemans, Berten, Chassaing, Nicolas, Depienne, Christel, Endziniene, Milda, Ferreira, Carlos R., Moura de Souza, Carolina Fischinger, Freihuber, Cécile, Ganesan, Shiva, Gataullina, Svetlana, Guerrini, Renzo, Guerrot, Anne‐Marie, Hansen, Lars, Jezela‐Stanek, Aleksandra, Karsenty, Caroline, Kievit, Anneke, Kooy, Frank R., Korff, Christian M., Kragh Hansen, Johanne, Larsen, Martin, Layet, Valérie, Lesca, Gaetan, McBride, Kim L., Meuwissen, Marije, Mignot, Cyril, Montomoli, Martino, Moore, Hannah, Naudion, Sophie, Nava, Caroline, Nougues, Marie‐Christine, Parrini, Elena, Pastore, Matthew, Schelhaas, Jurgen H., Skinner, Steven, Szczałuba, Krzysztoł, Thomas, Ashley, Thomassen, Mads, Tranebjærg, Lisbeth, Slegtenhorst, Marjon, Wolfe, Lynne A., Lal, Dennis, Gardella, Elena, Bomme Ousager, Lilian, Brünger, Tobias, Helbig, Ingo, Krawitz, Peter, Møller, Rikke S.

“…Objective To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)‐related congenital disorder of glycosylation (PIGA‐CDG) and…”
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Growth charts in DYRK1A syndrome by Lanvin, Pierre‐Louis, Goronflot, Thomas, Isidor, Bertrand, Nizon, Mathilde, Durand, Benjamin, El Chehadeh, Salima, Geneviève, David, Ruault, Valentin, Fradin, Mélanie, Pasquier, Laurent, Thévenon, Julien, Delobel, Bruno, Burglen, Lydie, Afenjar, Alexandra, Faivre, Laurence, Francannet, Christine, Guerrot, Anne‐Marie, Goldenberg, Alice, Mercier, Sandra, Héron, Delphine, Lehalle, Daphné, Mignot, Cyril, Marey, Isabelle, Charles, Perrine, Moutton, Sébastien, Bézieau, Stéphane, Bayat, Allan, Piton, Amélie, Willems, Marjolaine, Vincent, Marie

“…DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with…”
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De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder by Dias, Caroline, Pfundt, Rolph, Kleefstra, Tjitske, Shuurs‐Hoeijmakers, Janneke, Boon, Elles M. J., Hagen, Johanna M., Zwijnenburg, Petra, Weiss, Marjan M., Keren, Boris, Mignot, Cyril, Isapof, Arnaud, Weiss, Karin, Hershkovitz, Tova, Iascone, Maria, Maitz, Silvia, Feichtinger, René G., Kotzot, Dieter, Mayr, Johannes A., Ben‐Omran, Tawfeg, Mahmoud, Laila, Pais, Lynn S., Walsh, Christopher A., Shashi, Vandana, Sullivan, Jennifer A., Stong, Nicholas, Lecoquierre, Francois, Guerrot, Anne‐Marie, Charollais, Aude, Rodan, Lance H.

“…TCF7L2 encodes transcription factor 7‐like 2 (OMIM 602228), a key mediator of the evolutionary conserved canonical Wnt signaling pathway. Although several…”
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Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency by Staklinski, Stephen J, Snanoudj, Sarah, Guerrot, Anne-Marie, Vanhulle, Catherine, Lecoquierre, François, Bekri, Soumeya, Kilberg, Michael S

“…Asparagine Synthetase Deficiency (ASNSD) is a disease caused by mutations in asparagine synthetase (ASNS). Newborns exhibit microcephaly, intractable…”
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome by Legendre, Marine, Abadie, Véronique, Attié‐Bitach, Tania, Philip, Nicole, Busa, Tiffany, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Lacombe, Didier, Toutain, Annick, Blesson, Sophie, Julia, Sophie, Martin‐Coignard, Dominique, Geneviève, David, Leheup, Bruno, Odent, Sylvie, Jouk, Pierre‐Simon, Mercier, Sandra, Faivre, Laurence, Vincent‐Delorme, Catherine, Francannet, Christine, Naudion, Sophie, Mathieu‐Dramard, Michèle, Delrue, Marie‐Ange, Goldenberg, Alice, Héron, Delphine, Parent, Philippe, Touraine, Renaud, Layet, Valérie, Sanlaville, Damien, Quélin, Chloé, Moutton, Sébastien, Fradin, Mélanie, Jacquette, Aurélia, Sigaudy, Sabine, Pinson, Lucile, Sarda, Pierre, Guerrot, Anne‐Marie, Rossi, Massimiliano, Masurel‐Paulet, Alice, El Chehadeh, Salima, Piguel, Xavier, Rodriguez‐Ballesteros, Montserrat, Ragot, Stéphanie, Lyonnet, Stanislas, Bilan, Frédéric, Gilbert‐Dussardier, Brigitte

“…CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development,…”
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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders by O'Grady, Lauren, Schrier Vergano, Samantha A., Hoffman, Trevor L., Sarco, Dean, Cherny, Sara, Bryant, Emily, Schultz‐Rogers, Laura, Chung, Wendy K., Sacharow, Stephanie, Immken, Ladonna L., Holder, Susan, Blackwell, Rebecca R., Buchanan, Catherine, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne‐Marie, Rodan, Lance, Vries, Bert B. A., Kamsteeg, Erik Jan, Santos Simarro, Fernando, Palomares‐Bralo, Maria, Brown, Natasha, Pais, Lynn, Ferrer, Alejandro, Klee, Eric W., Babovic‐Vuksanovic, Dusica, Rhodes, Lindsay, Person, Richard, Begtrup, Amber, Keller‐Ramey, Jennifer, Santiago‐Sim, Teresa, Schnur, Rhonda E., Sweetser, David A., Gold, Nina B.

“…The pre‐mRNA‐processing factor 8, encoded by PRPF8, is a scaffolding component of a spliceosome complex involved in the removal of introns from mRNA…”
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Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11 by Goldenberg, Alice, Riccardi, Florence, Tessier, Aude, Pfundt, Rolph, Busa, Tiffany, Cacciagli, Pierre, Capri, Yline, Coutton, Charles, Delahaye-Duriez, Andree, Frebourg, Thierry, Gatinois, Vincent, Guerrot, Anne-Marie, Genevieve, David, Lecoquierre, Francois, Jacquette, Aurélia, Khau Van Kien, Philippe, Leheup, Bruno, Marlin, Sandrine, Verloes, Alain, Michaud, Vincent, Nadeau, Gwenael, Mignot, Cyril, Parent, Philippe, Rossi, Massimiliano, Toutain, Annick, Schaefer, Elise, Thauvin-Robinet, Christel, Van Maldergem, Lionel, Thevenon, Julien, Satre, Véronique, Perrin, Laurence, Vincent-Delorme, Catherine, Sorlin, Arthur, Missirian, Chantal, Villard, Laurent, Mancini, Julien, Saugier-Veber, Pascale, Philip, Nicole

“…KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a…”
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Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders by Thauvin‐Robinet, Christel, Garde, Aurore, Delanne, Julian, Racine, Caroline, Rousseau, Thierry, Simon, Emmanuel, François, Michel, Moutton, Sebastien, Sylvie, Odent, Quelin, Chloe, Morel, Godelieve, Goldenberg, Alice, Guerrot, Anne‐Marie, Vera, Gabriella, Gruchy, Nicolas, Colson, Cindy, Boute, Odile, Abel, Carine, Putoux, Audrey, Amiel, Jeanne, Guichet, Agnes, Isidor, Bertrand, Deiller, Caroline, Wells, Constance, Rooryck, Caroline, Legendre, Marine, Francannet, Christine, Dard, Rodolphe, Sigaudy, Sabine, Bruel, Ange‐Line, Safraou, Hana, Denommé‐Pichon, Anne‐Sophie, Nambot, Sophie, Asensio, Marie‐Laure Humbert, Binquet, Christine, Duffourd, Yannis, Vitobello, Antonio, Philippe, Christophe, Faivre, Laurence, Tran‐Mau‐Them, Frédéric, Bourgon, Nicolas

“…Objective Prenatal exome sequencing (pES) is now commonly used in clinical practice. It can be used to identifiy an additional diagnosis in around 30% of…”
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Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder by Lecoquierre, François, Bonnevalle, Antoine, Chadie, Alexandra, Gayet, Claire, Dumant‐Forest, Clémentine, Renaux‐Petel, Mariette, Leca, Jean‐Baptiste, Hazelzet, Tristan, Brasseur‐Daudruy, Marie, Louillet, Ferielle, Muraine, Marc, Coutant, Sophie, Quenez, Olivier, Boland, Anne, Deleuze, Jean‐François, Frebourg, Thierry, Goldenberg, Alice, Saugier‐Veber, Pascale, Guerrot, Anne‐Marie, Nicolas, Gaël

“…Introduction SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous…”
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Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases by Tessier, Aude, Sarreau, Mélie, Pelluard, Fanny, André, Gwenaelle, Blesson, Sophie, Bucourt, Martine, Dechelotte, Pierre, Faivre, Laurence, Frébourg, Thierry, Goldenberg, Alice, Goua, Valérie, Jeanne-Pasquier, Corinne, Guimiot, Fabien, Laquerriere, Annie, Laurent, Nicole, Lefebvre, Mathilde, Loget, Philippe, Maréchaud, Martine, Mechler, Charlotte, Perez, Marie-Josée, Sabourin, Jean Christophe, Verloes, Alain, Patrier, Sophie, Guerrot, Anne-Marie

“…Objective Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract…”
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Significant contribution of intragenic deletions to ARID1B mutation spectrum by Gorokhova, Svetlana, Mortreux, Jeremie, Afenjar, Alexandra, Attie-Bitach, Tania, Blanluet, Maud, Cormier-Daire, Valérie, Guerrot, Anne-Marie, Lebre, Anne-Sophie, Malan, Valérie, Nicolas, Gael, Rondeau, Sophie, Philip, Nicole, Saugier-Veber, Pascale, Badens, Catherine, Missirian, Chantal

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Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria by Abily-Donval, Lenaig, Torre, Stéphanie, Samson, Aurélie, Sudrié-Arnaud, Bénédicte, Acquaviva, Cécile, Guerrot, Anne-Marie, Benoist, Jean-François, Marret, Stéphane, Bekri, Soumeya, Tebani, Abdellah

“…Methylmalonyl-CoA epimerase (MCE) converts d-methylmalonyl-CoA epimer to l-methylmalonyl-CoA epimer in the propionyl-CoA to succinyl-CoA pathway. Only seven…”
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Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report by Marguet, Florent, Laquerrière, Annie, Goldenberg, Alice, Guerrot, Anne-Marie, Quenez, Olivier, Flahaut, Philippe, Vanhulle, Catherine, Dumant-Forest, Clémentine, Charbonnier, Françoise, Vezain, Myriam, Bekri, Soumeya, Tournier, Isabelle, Frébourg, Thierry, Nicolas, Gaël

“…We describe the case of a young patient with calcifying encephalopathy, born to asymptomatic parents. An extensive hypothesis‐driven etiological assessment was…”
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Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use by 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

“…Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component whose knowledge evolves quickly. Next-generation sequencing is…”
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Lithium improved behavioral and epileptic symptoms in an adolescent with ring chromosome 20 and bipolar disorder not otherwise specified by Inal, Adlane, Chaumette, Boris, Soleimani, Maryam, Guerrot, Anne‐Marie, Goldenberg, Alice, Lebas, Axel, Gerardin, Priscille, Ferrafiat, Vladimir

“…Key Clinical Message We present a case of ring chromosome 20 syndrome in a twelve‐year‐old girl, with resistant epileptic disease and severe behavioral…”
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NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation by 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

“…NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still…”
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Comparison in outcomes at two-years of age of very preterm infants born in 2000, 2005 and 2010 by Abily-Donval, Lénaïg, Pinto-Cardoso, Gaëlle, Chadie, Alexandra, Guerrot, Anne-Marie, Torre, Stéphanie, Rondeau, Stéphane, Marret, Stéphane

“…To investigate alteration in 2-year neurological/behavioral outcomes of very preterm infants born in a French level three neonatal intensive care unit. We…”
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Recurrent KIF2A mutations are responsible for classic lissencephaly by Cavallin, Mara, Bijlsma, Emilia K., El Morjani, Adrienne, Moutton, Sébastien, Peeters, Els A. J., Maillard, Camille, Pedespan, Jean Michel, Guerrot, Anne-Marie, Drouin-Garaud, Valérie, Coubes, Christine, Genevieve, David, Bole-Feysot, Christine, Fourrage, Cecile, Steffann, Julie, Bahi-Buisson, Nadia

“…Kinesins play a critical role in the organization and dynamics of the microtubule cytoskeleton, making them central players in neuronal proliferation, neuronal…”
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Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients by Grotto, Sarah, Cuisset, Jean-Marie, Marret, Stéphane, Drunat, Séverine, Faure, Patricia, Audebert-Bellanger, Séverine, Desguerre, Isabelle, Flurin, Vincent, Grebille, Anne-Gaëlle, Guerrot, Anne-Marie, Journel, Hubert, Morin, Gilles, Plessis, Ghislaine, Renolleau, Sylvain, Roume, Joëlle, Simon-Bouy, Brigitte, Touraine, Renaud, Willems, Marjolaine, Frébourg, Thierry, Verspyck, Eric, Saugier-Veber, Pascale

“…Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2…”
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