Works by Guimiot, Fabien

Results: 45
    1

    Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

    Published in:
    Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0438-4
    By:
    • Saugier-Veber, Pascale;
    • Marguet, Florent;
    • Lecoquierre, François;
    • Adle-Biassette, Homa;
    • Guimiot, Fabien;
    • Cipriani, Sara;
    • Patrier, Sophie;
    • Brasseur-Daudruy, Marie;
    • Goldenberg, Alice;
    • Layet, Valérie;
    • Capri, Yline;
    • Gérard, Marion;
    • Frébourg, Thierry;
    • Laquerrière, Annie
    Publication type:
    Article
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    Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation.

    Published in:
    Acta Neuropathologica, 2021, v. 142, n. 4, p. 761, doi. 10.1007/s00401-021-02355-7
    By:
    • Haldipur, Parthiv;
    • Bernardo, Silvia;
    • Aldinger, Kimberly A.;
    • Sivakumar, Tarika;
    • Millman, Jake;
    • Sjoboen, Alexandria H.;
    • Dang, Derek;
    • Dubocanin, Danilo;
    • Deng, Mei;
    • Timms, Andrew E.;
    • Davis, Brian D.;
    • Plummer, Jasmine T.;
    • Mankad, Kshitij;
    • Oztekin, Ozgur;
    • Manganaro, Lucia;
    • Guimiot, Fabien;
    • Adle-Biassette, Homa;
    • Russo, Rosa;
    • Siebert, Joseph R.;
    • Kidron, Debora
    Publication type:
    Article
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    Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 469, doi. 10.1093/brain/awr357
    By:
    • Devisme, Louise;
    • Bouchet, Céline;
    • Gonzalès, Marie;
    • Alanio, Elisabeth;
    • Bazin, Anne;
    • Bessières, Bettina;
    • Bigi, Nicole;
    • Blanchet, Patricia;
    • Bonneau, Dominique;
    • Bonnières, Maryse;
    • Bucourt, Martine;
    • Carles, Dominique;
    • Clarisse, Bénedicte;
    • Delahaye, Sophie;
    • Fallet-Bianco, Catherine;
    • Figarella-Branger, Dominique;
    • Gaillard, Dominique;
    • Gasser, Bernard;
    • Delezoide, Anne-Lise;
    • Guimiot, Fabien
    Publication type:
    Article
    6

    Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment.

    Published in:
    2022
    By:
    • Vinit, N.;
    • Bessières, B.;
    • Spaggiari, E.;
    • Heidet, L.;
    • Gubler, M.‐C.;
    • Dreux, S.;
    • Attie‐Bitach, T.;
    • Blanc, T.;
    • Ville, Y.;
    • Stirnemann, Julien J.;
    • Salomon, Laurent J.;
    • Loeuillet, Laurence;
    • Bonnière, Maryse;
    • Salhi, Houria;
    • Roux, Nathalie;
    • Petrilli, Giulia;
    • Guimiot, Fabien;
    • Khung‐Savatovsky, Suonavy;
    • Rosenblatt, Jonathan;
    • Quibel, Thibaud
    Publication type:
    journal article
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    Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.

    Published in:
    2016
    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
    Publication type:
    journal article
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    Application of a new molecular technique for the genetic evaluation of products of conception.

    Published in:
    Prenatal Diagnosis, 2013, v. 33, n. 1, p. 32, doi. 10.1002/pd.4004
    By:
    • Grati, Francesca R.;
    • Gomes, Denise Molina;
    • Ganesamoorthy, Devika;
    • Marcato, Livia;
    • De Toffol, Simona;
    • Blondeel, Eleonore;
    • Malvestiti, Francesca;
    • Loeuillet, Laurence;
    • Ruggeri, Anna Maria;
    • Wainer, Robert;
    • Maggi, Federico;
    • Aboura, Azzedine;
    • Dupont, Celine;
    • Tabet, Anne Claude;
    • Guimiot, Fabien;
    • Slater, Howard R.;
    • Simoni, Giuseppe;
    • Vialard, François
    Publication type:
    Article
    13
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    Prenatal phenotype of congenital hyperparathyroidism.

    Published in:
    Prenatal Diagnosis, 2012, v. 32, n. 9, p. 906, doi. 10.1002/pd.3912
    By:
    • Spaggiari, Emmanuel;
    • Bucau, Margot;
    • Capri, Yline;
    • Belarbi, Nadia;
    • Bekmezian, Anais;
    • Briffa, Jean-Michel;
    • Delezoide, Anne-Lise;
    • Guimiot, Fabien
    Publication type:
    Article
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    Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1010, doi. 10.1038/ejhg.2014.230
    By:
    • El Khattabi, Laïla;
    • Guimiot, Fabien;
    • Pipiras, Eva;
    • Andrieux, Joris;
    • Baumann, Clarisse;
    • Bouquillon, Sonia;
    • Delezoide, Anne-Lise;
    • Delobel, Bruno;
    • Demurger, Florence;
    • Dessuant, Hélène;
    • Drunat, Séverine;
    • Dubourg, Christelle;
    • Dupont, Céline;
    • Faivre, Laurence;
    • Holder-Espinasse, Muriel;
    • Jaillard, Sylvie;
    • Journel, Hubert;
    • Lyonnet, Stanislas;
    • Malan, Valérie;
    • Masurel, Alice
    Publication type:
    Article
    24

    A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 3, p. 395, doi. 10.1038/ejhg.2008.200
    By:
    • Huber, Céline;
    • Delezoide, Anee-Lise;
    • Guimiot, Fabien;
    • Baumann, Clarisse;
    • Malan, Valérie;
    • Le Merrer, Martine;
    • Da Silva, Daniela Bezerra;
    • Bonneau, Dominique;
    • Chatelain, Pierre;
    • Chu, Carol;
    • Clark, Robin;
    • Cox, Helen;
    • Edery, Patrick;
    • Edouard, Thomas;
    • Fano, Virginia;
    • Gibson, Kate;
    • Gillessen-Kaesbach, Gabriele;
    • Maria-Luisa Giovannucci-Uzielli;
    • Graul-Neumann, Luitgard Margarete;
    • van Hagen, Johana-Maria
    Publication type:
    Article
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    Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

    Published in:
    2021
    By:
    • Thuy-Linh Le;
    • Galmiche, Louise;
    • Levy, Jonathan;
    • Suwannarat, Pim;
    • Hellebrekers, Debby M. E. I.;
    • Morarach, Khomgrit;
    • Boismoreau, Franck;
    • Theunissen, Tom E. J.;
    • Lefebvre, Mathilde;
    • Pelet, Anna;
    • Martinovic, Jelena;
    • Gelot, Antoinette;
    • Guimiot, Fabien;
    • Calleroz, Amanda;
    • Gitiaux, Cyril;
    • Hully, Marie;
    • Goulet, Olivier;
    • Chardot, Christophe;
    • Drunat, Severine;
    • Capri, Yline
    Publication type:
    journal article
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    Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 3, p. 384, doi. 10.1111/cge.13500
    By:
    • Antin, Manuela;
    • Leuvrey, Anne;
    • Nourisson, Elsa;
    • Mary, Laura;
    • Muller, Jean;
    • Bouvier, Raymonde;
    • Buenerd, Annie;
    • Clémenson, Alix;
    • Devisme, Louise;
    • Gasser, Bernard;
    • Gilbert‐Dussardier, Brigitte;
    • Guimiot, Fabien;
    • Khau Van Kien, Philippe;
    • Leroy, Brigitte;
    • Loget, Philippe;
    • Stoetzel, Corinne;
    • Schaefer, Elise;
    • Dollfus, Hélène;
    • Chennen, Kirsley;
    • Martinovic, Jelena
    Publication type:
    Article
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    Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2081, doi. 10.1002/ajmg.a.38302
    By:
    • Lévy, Jonathan;
    • Coussement, Aurélie;
    • Dupont, Céline;
    • Guimiot, Fabien;
    • Baumann, Clarisse;
    • Viot, Géraldine;
    • Passemard, Sandrine;
    • Capri, Yline;
    • Drunat, Séverine;
    • Verloes, Alain;
    • Pipiras, Eva;
    • Benzacken, Brigitte;
    • Dupont, Jean‐Michel;
    • Tabet, Anne‐Claude
    Publication type:
    Article
    37

    Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype-phenotype correlation.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2504, doi. 10.1002/ajmg.a.36658
    By:
    • Quelin, Chloe;
    • Spaggiari, Emmanuel;
    • Khung‐Savatovsky, Suonavy;
    • Dupont, Celine;
    • Pasquier, Laurent;
    • Loeuillet, Laurence;
    • Jaillard, Sylvie;
    • Lucas, Josette;
    • Marcorelles, Pascale;
    • Journel, Hubert;
    • Pluquailec‐Bilavarn, Khantaby;
    • Bazin, Anne;
    • Verloes, Alain;
    • Delezoide, Anne‐Lise;
    • Aboura, Azzedine;
    • Guimiot, Fabien
    Publication type:
    Article
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    Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2430, doi. 10.1002/ajmg.a.35548
    By:
    • Delahaye, Andrée;
    • Khung-Savatovsky, Suonavy;
    • Aboura, Azzedine;
    • Guimiot, Fabien;
    • Drunat, Séverine;
    • Alessandri, Jean-Luc;
    • Gérard, Marion;
    • Bitoun, Pierre;
    • Boumendil, Julien;
    • Robin, Stéphanie;
    • Huel, Chan;
    • Guilherme, Romain;
    • Serero, Stéphane;
    • Gressens, Pierre;
    • Elion, Jacques;
    • Verloes, Alain;
    • Benzacken, Brigitte;
    • Delezoide, Anne-Lise;
    • Pipiras, Eva
    Publication type:
    Article
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    Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes.

    Published in:
    Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 11, p. 2401, doi. 10.1007/s00417-019-04462-4
    By:
    • Valensi, Maud;
    • Goldman, Gabrielle;
    • Marchant, Dominique;
    • Van Den Berghe, Loïc;
    • Jonet, Laurent;
    • Daruich, Alejandra;
    • Robert, Matthieu P.;
    • Krejci, Eric;
    • Klein, Christophe;
    • Mascarelli, Frédéric;
    • Versaux-Botteri, Claudine;
    • Moulin, Alexandre;
    • Putterman, Marc;
    • Guimiot, Fabien;
    • Molina, Thierry;
    • Terris, Benoît;
    • Brémond-Gignac, Dominique;
    • Behar-Cohen, Francine;
    • Abitbol, Marc M.
    Publication type:
    Article
    43

    Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26447-w
    By:
    • Kyrousi, Christina;
    • O'Neill, Adam C.;
    • Brazovskaja, Agnieska;
    • He, Zhisong;
    • Kielkowski, Pavel;
    • Coquand, Laure;
    • Di Giaimo, Rossella;
    • D' Andrea, Pierpaolo;
    • Belka, Alexander;
    • Forero Echeverry, Andrea;
    • Mei, Davide;
    • Lenge, Matteo;
    • Cruceanu, Cristiana;
    • Buchsbaum, Isabel Y.;
    • Khattak, Shahryar;
    • Fabien, Guimiot;
    • Binder, Elisabeth;
    • Elmslie, Frances;
    • Guerrini, Renzo;
    • Baffet, Alexandre D.
    Publication type:
    Article
    44

    3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.

    Published in:
    Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0059-6
    By:
    • Dupont, Celine;
    • Bucourt, Martine;
    • Guimiot, Fabien;
    • Kraoua, Lilia;
    • Smiljkovski, Daniel;
    • Le Tessier, Dominique;
    • Lebugle, Camille;
    • Gerard, Benedicte;
    • Spaggiari, Emmanuel;
    • Bourdoncle, Pierre;
    • Tabet, Anne-Claude;
    • Benzacken, Brigitte;
    • Dupont, Jean-Michel
    Publication type:
    Article
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