Found: 23

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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.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 559, doi. 10.3390/ijms24010559
    By:
    • Staklinski, Stephen J.;
    • Snanoudj, Sarah;
    • Guerrot, Anne-Marie;
    • Vanhulle, Catherine;
    • Lecoquierre, François;
    • Bekri, Soumeya;
    • Kilberg, Michael S.
    Publication type:
    Article

  • Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.

    Published in:
    2017
    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
    Publication type:
    Case Study

  • High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

    Published in:
    Human Genetics, 2023, v. 142, n. 6, p. 773, doi. 10.1007/s00439-023-02553-1
    By:
    • Lecoquierre, François;
    • Quenez, Olivier;
    • Fourneaux, Steeve;
    • Coutant, Sophie;
    • Vezain, Myriam;
    • Rolain, Marion;
    • Drouot, Nathalie;
    • Boland, Anne;
    • Olaso, Robert;
    • Meyer, Vincent;
    • Deleuze, Jean-François;
    • Dabbagh, Dana;
    • Gilles, Isabelle;
    • Gayet, Claire;
    • Saugier-Veber, Pascale;
    • Goldenberg, Alice;
    • Guerrot, Anne-Marie;
    • Nicolas, Gaël
    Publication type:
    Article

  • MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 65, doi. 10.1007/s00439-021-02383-z
    By:
    • Coursimault, Juliette;
    • Guerrot, Anne-Marie;
    • Morrow, Michelle M.;
    • Schramm, Catherine;
    • Zamora, Francisca Millan;
    • Shanmugham, Anita;
    • Liu, Shuxi;
    • Zou, Fanggeng;
    • Bilan, Frédéric;
    • Le Guyader, Gwenaël;
    • Bruel, Ange-Line;
    • Denommé-Pichon, Anne-Sophie;
    • Faivre, Laurence;
    • Tran Mau-Them, Frédéric;
    • Tessarech, Marine;
    • Colin, Estelle;
    • El Chehadeh, Salima;
    • Gérard, Bénédicte;
    • Schaefer, Elise;
    • Cogne, Benjamin
    Publication type:
    Article

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

    Published in:
    Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0760-7
    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
    Publication type:
    Article

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

    Published in:
    Life (2075-1729), 2021, v. 11, n. 3, p. 187, doi. 10.3390/life11030187
    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;
    • Galindo, Carmen Espinós; Máximo Ibo;
    • Rodrigo, Regina
    Publication type:
    Article

  • Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63476
    By:
    • Jedraszak, Guillaume;
    • Jobic, Florence;
    • Receveur, Aline;
    • Bilan, Frédéric;
    • Gilbert‐Dussardier, Brigitte;
    • Tiffany, Busa;
    • Missirian, Chantal;
    • Willems, Marjolaine;
    • Odent, Sylvie;
    • Lucas, Josette;
    • Dubourg, Christele;
    • Schaefer, Elise;
    • Scheidecker, Sophie;
    • Lespinasse, James;
    • Goldenberg, Alice;
    • Guerrot, Anne‐Marie;
    • Joly‐Helas, Géraldine;
    • Chambon, Pascal;
    • Le Caignec, Cédric;
    • David, Albert
    Publication type:
    Article

  • Growth charts in DYRK1A syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 9, doi. 10.1002/ajmg.a.63412
    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
    Publication type:
    Article

  • Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2750, doi. 10.1002/ajmg.a.62772
    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;
    • de Vries, Bert B. A.;
    • Kamsteeg, Erik Jan;
    • Santos Simarro, Fernando
    Publication type:
    Article

  • Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2257, doi. 10.1002/ajmg.a.61317
    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
    Publication type:
    Article

  • Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2847, doi. 10.1002/ajmg.a.37878
    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
    Publication type:
    Article

  • Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1317, doi. 10.1002/ajmg.a.37577
    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
    Publication type:
    Article

  • Comparison in Outcomes at Two-Years of Age of Very Preterm Infants Born in 2000, 2005 and 2010.

    Published in:
    PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0114567
    By:
    • Abily-Donval, Lénaïg;
    • Pinto-Cardoso, Gaëlle;
    • Chadie, Alexandra;
    • Guerrot, Anne-Marie;
    • Torre, Stéphanie;
    • Rondeau, Stéphane;
    • Marret, Stéphane;
    • null, null
    Publication type:
    Article

  • Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.

    Published in:
    2022
    By:
    • Dabaj, Ivana;
    • Hassani, Adnan;
    • Burglen, Lydie;
    • Qebibo, Leila;
    • Guerrot, Anne-Marie;
    • Marret, Stéphane;
    • Tebani, Abdellah;
    • Bekri, Soumeya
    Publication type:
    Case Study

  • Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.

    Published in:
    British Journal of Dermatology, 2024, v. 191, n. 2, p. 303, doi. 10.1093/bjd/ljae167
    By:
    • Kuentz, Paul;
    • Engel, Camille;
    • Laeng, Mathieu;
    • Chevarin, Martin;
    • Duffourd, Yannis;
    • Martel, Jéhanne;
    • Piard, Juliette;
    • Morice-Picard, Fanny;
    • Aubert, Helene;
    • Bessis, Didier;
    • Guerrot, Anne-Marie;
    • Maruani, Annabel;
    • Boccara, Olivia;
    • Mazereeuw-Hautier, Juliette;
    • Ott, Hagen;
    • Phan, Alice;
    • Puzenat, Eve;
    • Quelin, Chloe;
    • Thauvin-Robinet, Christel;
    • Faivre, Laurence
    Publication type:
    Article

  • Severe Phenotype in Patients with Large Deletions of NF1.

    Published in:
    Cancers, 2021, v. 13, n. 12, p. 2963, doi. 10.3390/cancers13122963
    By:
    • Pacot, Laurence;
    • Vidaud, Dominique;
    • Sabbagh, Audrey;
    • Laurendeau, Ingrid;
    • Briand-Suleau, Audrey;
    • Coustier, Audrey;
    • Maillard, Théodora;
    • Barbance, Cécile;
    • Morice-Picard, Fanny;
    • Sigaudy, Sabine;
    • Glazunova, Olga O.;
    • Damaj, Lena;
    • Layet, Valérie;
    • Quelin, Chloé;
    • Gilbert-Dussardier, Brigitte;
    • Audic, Frédérique;
    • Dollfus, Hélène;
    • Guerrot, Anne-Marie;
    • Lespinasse, James;
    • Julia, Sophie
    Publication type:
    Article

  • Lessons learned from 40 novel PIGA patients and a review of the literature.

    Published in:
    Epilepsia (Series 4), 2020, v. 61, n. 6, p. 1142, doi. 10.1111/epi.16545
    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
    Publication type:
    Article

  • A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.

    Published in:
    Clinical Chemistry, 2019, v. 65, n. 9, p. 1153, doi. 10.1373/clinchem.2019.304246
    By:
    • Cassinari, Kévin;
    • Quenez, Olivier;
    • Joly-Hélas, Géraldine;
    • Beaussire, Ludivine;
    • Le Meur, Nathalie;
    • Castelain, Mathieu;
    • Goldenberg, Alice;
    • Guerrot, Anne-Marie;
    • Brehin, Anne-Claire;
    • Deleuze, Jean-François;
    • Boland, Anne;
    • Rovelet-Lecrux, Anne;
    • Campion, Dominique;
    • Saugier-Veber, Pascale;
    • Gruchy, Nicolas;
    • Frebourg, Thierry;
    • Nicolas, Gaël;
    • Sarafan-Vasseur, Nasrin;
    • Chambon, Pascal
    Publication type:
    Article

  • Lithium improved behavioral and epileptic symptoms in an adolescent with ring chromosome 20 and bipolar disorder not otherwise specified.

    Published in:
    2018
    By:
    • Inal, Adlane;
    • Chaumette, Boris;
    • Soleimani, Maryam;
    • Guerrot, Anne‐Marie;
    • Goldenberg, Alice;
    • Lebas, Axel;
    • Gerardin, Priscille;
    • Ferrafiat, Vladimir
    Publication type:
    Case Study

  • Compared outcomes of very preterm infants born in 2000 and 2005.

    Published in:
    Acta Paediatrica, 2012, v. 101, n. 7, p. 731, doi. 10.1111/j.1651-2227.2012.02678.x
    By:
    • Guerrot, Anne-Marie;
    • Chadie, Alexandra;
    • Torre, Stéphanie;
    • Rondeau, Stéphane;
    • Pinto Cardoso, Gaëlle;
    • Abily-Donval, Lénaig;
    • Marret, Stéphane
    Publication type:
    Article

  • Inflammation processes in perinatal brain damage.

    Published in:
    Journal of Neural Transmission, 2010, v. 117, n. 8, p. 1009, doi. 10.1007/s00702-010-0411-x
    By:
    • Degos, Vincent;
    • Favrais, Géraldine;
    • Kaindl, Angela M.;
    • Peineau, Stéphane;
    • Guerrot, Anne Marie;
    • Verney, Catherine;
    • Gressens, Pierre
    Publication type:
    Article

  • Recurrent KIF2A mutations are responsible for classic lissencephaly.

    Published in:
    Neurogenetics, 2017, v. 18, n. 2, p. 73, doi. 10.1007/s10048-016-0499-8
    By:
    • Cavallin, Mara;
    • Bijlsma, Emilia;
    • El Morjani, Adrienne;
    • Moutton, Sébastien;
    • Peeters, Els;
    • Maillard, Camille;
    • Pedespan, Jean;
    • Guerrot, Anne-Marie;
    • Drouin-Garaud, Valérie;
    • Coubes, Christine;
    • Genevieve, David;
    • Bole-Feysot, Christine;
    • Fourrage, Cecile;
    • Steffann, Julie;
    • Bahi-Buisson, Nadia
    Publication type:
    Article

  • De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder.

    Published in:
    Arthritis & Rheumatology, 2023, v. 75, n. 3, p. 468, doi. 10.1002/art.42354
    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
    Publication type:
    Article