Found: 10

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  • Cerebellar and Striatal Implications in Autism Spectrum Disorders: From Clinical Observations to Animal Models.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2294, doi. 10.3390/ijms23042294
    By:
    • Thabault, Mathieu;
    • Turpin, Valentine;
    • Maisterrena, Alexandre;
    • Jaber, Mohamed;
    • Egloff, Matthieu;
    • Galvan, Laurie
    Publication type:
    Article

  • 3q29 duplications: A cohort of 46 patients and a literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63531
    By:
    • Massier, Marie;
    • Doco‐Fenzy, Martine;
    • Egloff, Matthieu;
    • Le Guillou, Xavier;
    • Le Guyader, Gwenaël;
    • Redon, Sylvia;
    • Benech, Caroline;
    • Le Millier, Karine;
    • Uguen, Kevin;
    • Ropars, Juliette;
    • Sacaze, Elise;
    • Audebert‐Bellanger, Séverine;
    • Apetrei, Andreea;
    • Molin, Arnaud;
    • Gruchy, Nicolas;
    • Vincent‐Devulder, Aline;
    • Spodenkiewicz, Marta;
    • Jacquin, Clémence;
    • Loron, Gauthier;
    • Thibaud, Marie
    Publication type:
    Article

  • Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 52, doi. 10.1002/ajmg.a.62983
    By:
    • Jouret, Guillaume;
    • Egloff, Matthieu;
    • Landais, Emilie;
    • Tassy, Olivier;
    • Giuliano, Fabienne;
    • Karmous‐Benailly, Houda;
    • Coutton, Charles;
    • Satre, Véronique;
    • Devillard, Françoise;
    • Dieterich, Klaus;
    • Vieville, Gaëlle;
    • Kuentz, Paul;
    • le Caignec, Cédric;
    • Beneteau, Claire;
    • Isidor, Bertrand;
    • Nizon, Mathilde;
    • Callier, Patrick;
    • Marquet, Valentine;
    • Bieth, Eric;
    • Lévy, Jonathan
    Publication type:
    Article

  • 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2133, doi. 10.1002/ajmg.a.61734
    By:
    • Niclass, Tanguy;
    • Le Guyader, Gwenael;
    • Beneteau, Claire;
    • Joubert, Madeleine;
    • Pizzuti, Antonio;
    • Giuffrida, Maria Grazia;
    • Bernardini, Laura;
    • Gilbert‐Dussardier, Brigitte;
    • Bilan, Frederic;
    • Egloff, Matthieu
    Publication type:
    Article

  • Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 4, p. 401, doi. 10.1111/cge.14291
    By:
    • Masson, Julie;
    • Pebrel‐Richard, Céline;
    • Egloff, Matthieu;
    • Frétigny, Mathilde;
    • Beaumont, Marion;
    • Uguen, Kevin;
    • Rollat‐Farnier, Pierre‐Antoine;
    • Diguet, Flavie;
    • Perthus, Isabelle;
    • Le Gudayer, Gwenaël;
    • Haye, Damien;
    • Dupeyron, Marie‐Noëlle Bonnet;
    • Putoux, Audrey;
    • Raskin‐Champion, Fabienne;
    • Till, Marianne;
    • Chatron, Nicolas;
    • Doray, Bérénice;
    • Bardel, Claire;
    • Vinciguerra, Christine;
    • Sanlaville, Damien
    Publication type:
    Article

  • Scale-up of hepatic progenitor cells from multitray stack to 2-D bioreactors.

    Published in:
    BMC Proceedings, 2013, p. 1, doi. 10.1186/1753-6561-7-S6-P61
    By:
    • Egloff, Matthieu;
    • Collignon, Florence;
    • Michiels, Jean-François;
    • Goffinet, Jonathan;
    • Snykers, Sarah;
    • Willemsen, Philippe;
    • Gumy, Christophe;
    • Dedry, Claude;
    • Castillo, Jose;
    • Drugmand, Jean-Christophe
    Publication type:
    Article

  • SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.

    Published in:
    2019
    By:
    • Hureaux, Marguerite;
    • Ben Miled, Selima;
    • Chatron, Nicolas;
    • Coussement, Aurelie;
    • Bessières, Bettina;
    • Egloff, Matthieu;
    • Mechler, Charlotte;
    • Stirnemann, Julien;
    • Tsatsaris, Vassilis;
    • Barcia, Giulia;
    • Turleau, Catherine;
    • Ville, Yves;
    • Encha‐Razavi, Ferechte;
    • Attie‐Bitach, Tania;
    • Malan, Valérie;
    • Encha-Razavi, Ferechte;
    • Attie-Bitach, Tania
    Publication type:
    journal article

  • Postzygotic Breakages of Dicentric Chromosomes: A Rare Mechanism of Terminal Deletions.

    Published in:
    Cytogenetic & Genome Research, 2022, v. 162, n. 5, p. 244, doi. 10.1159/000526747
    By:
    • Foucart, Caroline;
    • Le Guyader, Gwenaël;
    • Vequeau-Goua, Valérie;
    • Gilbert-Dussardier, Brigitte;
    • Egloff, Matthieu
    Publication type:
    Article

  • A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.

    Published in:
    Cytogenetic & Genome Research, 2016, v. 147, n. 2/3, p. 103, doi. 10.1159/000442904
    By:
    • Malan, Valérie;
    • Lapierre, Jean-Michel;
    • Egloff, Matthieu;
    • Goidin, Didier;
    • Beaujard, Marie-Paule;
    • Maurin, Marie-Laure;
    • attié-Bitach, Tania;
    • Bessières, Bettina;
    • Bernard, Jean-Pierre;
    • Roth, Philippe;
    • Stirnemann, Julien;
    • Salomon, Laurent;
    • Romana, Serge;
    • Vekemans, Michel;
    • Ville, Yves;
    • Turleau, Catherine
    Publication type:
    Article

  • 17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis.

    Published in:
    Cytogenetic & Genome Research, 2015, v. 144, n. 3, p. 178, doi. 10.1159/000369117
    By:
    • Egloff, Matthieu;
    • Encha-Razavi, Ferechte;
    • Garel, Catherine;
    • Bonnière-Darcy, Maryse;
    • Millischer, anne-Elodie;
    • Lapierre, Jean-Michel;
    • Fontaine, Sophie;
    • de Blois, Marie-Christine;
    • Vekemans, Michel;
    • Turleau, Catherine;
    • Ville, Yves;
    • Malan, Valérie
    Publication type:
    Article