De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder
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
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.03.2023)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.03.2023)
Get full text
Journal Article
Lessons learned from 40 novel PIGA patients and a review of the literature
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.
Published in Epilepsia (Copenhagen) (01.06.2020)
Published in Epilepsia (Copenhagen) (01.06.2020)
Get full text
Journal Article
Growth charts in DYRK1A syndrome
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
Published in American journal of medical genetics. Part A (01.01.2024)
Published in American journal of medical genetics. Part A (01.01.2024)
Get full text
Journal Article
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency
Staklinski, Stephen J, Snanoudj, Sarah, Guerrot, Anne-Marie, Vanhulle, Catherine, Lecoquierre, François, Bekri, Soumeya, Kilberg, Michael S
Published in International journal of molecular sciences (29.12.2022)
Published in International journal of molecular sciences (29.12.2022)
Get full text
Journal Article
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
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.
Published in American journal of medical genetics. Part A (01.08.2021)
Published in American journal of medical genetics. Part A (01.08.2021)
Get full text
Journal Article
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
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
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2017)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2017)
Get full text
Journal Article
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders
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.
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
Get full text
Journal Article
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11
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
Published in American journal of medical genetics. Part A (01.11.2016)
Published in American journal of medical genetics. Part A (01.11.2016)
Get full text
Journal Article
Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder
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
Published in American journal of medical genetics. Part A (01.11.2019)
Published in American journal of medical genetics. Part A (01.11.2019)
Get full text
Journal Article
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases
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
Published in Prenatal diagnosis (01.12.2016)
Published in Prenatal diagnosis (01.12.2016)
Get full text
Journal Article
Significant contribution of intragenic deletions to ARID1B mutation spectrum
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
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
Get full text
Journal Article
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria
Abily-Donval, Lenaig, Torre, Stéphanie, Samson, Aurélie, Sudrié-Arnaud, Bénédicte, Acquaviva, Cécile, Guerrot, Anne-Marie, Benoist, Jean-François, Marret, Stéphane, Bekri, Soumeya, Tebani, Abdellah
Published in International journal of molecular sciences (01.11.2017)
Published in International journal of molecular sciences (01.11.2017)
Get full text
Journal Article
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
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
Published in Translational psychiatry (24.02.2020)
Published in Translational psychiatry (24.02.2020)
Get full text
Journal Article
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report
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
Published in American journal of medical genetics. Part A (01.05.2016)
Published in American journal of medical genetics. Part A (01.05.2016)
Get full text
Journal Article
Lithium improved behavioral and epileptic symptoms in an adolescent with ring chromosome 20 and bipolar disorder not otherwise specified
Inal, Adlane, Chaumette, Boris, Soleimani, Maryam, Guerrot, Anne‐Marie, Goldenberg, Alice, Lebas, Axel, Gerardin, Priscille, Ferrafiat, Vladimir
Published in Clinical case reports (01.11.2018)
Published in Clinical case reports (01.11.2018)
Get full text
Journal Article
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation
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
Published in Life (Basel, Switzerland) (27.02.2021)
Published in Life (Basel, Switzerland) (27.02.2021)
Get full text
Journal Article
Recurrent KIF2A mutations are responsible for classic lissencephaly
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
Published in Neurogenetics (01.04.2017)
Published in Neurogenetics (01.04.2017)
Get full text
Journal Article
Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients
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
Published in Journal of neuromuscular diseases (29.11.2016)
Published in Journal of neuromuscular diseases (29.11.2016)
Get full text
Journal Article
Compared outcomes of very preterm infants born in 2000 and 2005
Guerrot, Anne-Marie, Chadie, Alexandra, Torre, Stéphanie, Rondeau, Stéphane, Pinto Cardoso, Gaëlle, Abily-Donval, Lénaig, Marret, Stéphane
Published in Acta Paediatrica (01.07.2012)
Published in Acta Paediatrica (01.07.2012)
Get full text
Journal Article