Works by Bonnet, Céline

Results: 49
    1

    Expression of neurotensin receptor 1 in endometrial adenocarcinoma is correlated with histological grade and clinical outcome.

    Published in:
    2017
    By:
    • Agopiantz, Mikaël;
    • Forgez, Patricia;
    • Casse, Jean-Matthieu;
    • Lacomme, Stéphanie;
    • Charra-Brunaud, Claire;
    • Clerc-Urmès, Isabelle;
    • Morel, Olivier;
    • Bonnet, Céline;
    • Guéant, Jean-Louis;
    • Vignaud, Jean-Michel;
    • Gompel, Anne;
    • Gauchotte, Guillaume;
    • Agopiantz, Mikaël;
    • Lacomme, Stéphanie;
    • Clerc-Urmès, Isabelle;
    • Bonnet, Céline;
    • Guéant, Jean-Louis
    Publication type:
    journal article
    2

    Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain <sup>18</sup>F-FDG PET.

    Published in:
    Neurogenetics, 2022, v. 23, n. 4, p. 241, doi. 10.1007/s10048-022-00695-4
    By:
    • Hocquel, Armand;
    • Ravel, Jean-Marie;
    • Lambert, Laetitia;
    • Bonnet, Céline;
    • Banneau, Guillaume;
    • Kol, Bophara;
    • Tissier, Laurène;
    • Hopes, Lucie;
    • Meyer, Mylène;
    • Dillier, Céline;
    • Michaud, Maud;
    • Lardin, Arnaud;
    • Kaminsky, Anne-Laure;
    • Schmitt, Emmanuelle;
    • Liao, Liang;
    • Zhu, François;
    • Myriam, Bronner;
    • Bossenmeyer-Pourié, Carine;
    • Verger, Antoine;
    • Renaud, Mathilde
    Publication type:
    Article
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    uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

    Published in:
    Human Mutation, 2022, v. 43, n. 9, p. 1239, doi. 10.1002/humu.24384
    By:
    • Coursimault, Juliette;
    • Rovelet‐Lecrux, Anne;
    • Cassinari, Kévin;
    • Brischoux‐Boucher, Elise;
    • Saugier‐Veber, Pascale;
    • Goldenberg, Alice;
    • Lecoquierre, François;
    • Drouot, Nathalie;
    • Richard, Anne‐Claire;
    • Vera, Gabriella;
    • Coutant, Sophie;
    • Quenez, Olivier;
    • Rolain, Marion;
    • Bonnet, Céline;
    • Bronner, Myriam;
    • Lecourtois, Magalie;
    • Nicolas, Gaël
    Publication type:
    Article
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    Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

    Published in:
    Human Mutation, 2007, v. 28, n. 11, p. 1098, doi. 10.1002/humu.20568
    By:
    • Saugier-Veber, Pascale;
    • Bonnet, Céline;
    • Afenjar, Alexandra;
    • Drouin-Garraud, Valérie;
    • Coubes, Christine;
    • Fehrenbach, Séverine;
    • Holder-Espinasse, Muriel;
    • Roume, Joëlle;
    • Malan, Valérie;
    • Portnoi, Marie-France;
    • Jeanne, Nicolas;
    • Baumann, Clarisse;
    • Héron, Delphine;
    • David, Albert;
    • Gérard, Marion;
    • Bonneau, Dominique;
    • Lacombe, Didier;
    • Cormier-Daire, Valérie;
    • Billette de Villemeur, Thierry;
    • Frébourg, Thierry
    Publication type:
    Article
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    Random Utility Models, Wine and Experts.

    Published in:
    American Journal of Agricultural Economics, 2021, v. 103, n. 2, p. 663, doi. 10.1111/ajae.12129
    By:
    • Villas‐Boas, Sofia B.;
    • Bonnet, Céline;
    • Hilger, James
    Publication type:
    Article
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    Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.

    Published in:
    Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad239
    By:
    • Ashton, Catherine;
    • Indelicato, Elisabetta;
    • Pellerin, David;
    • Clément, Guillemette;
    • Danzi, Matt C.;
    • Dicaire, Marie-Josée;
    • Bonnet, Céline;
    • Houlden, Henry;
    • Züchner, Stephan;
    • Synofzik, Matthis;
    • Lamont, Phillipa J.;
    • Renaud, Mathilde;
    • Boesch, Sylvia;
    • Brais, Bernard
    Publication type:
    Article
    15

    Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36654-8
    By:
    • Bonnet, Céline;
    • Pellerin, David;
    • Roth, Virginie;
    • Clément, Guillemette;
    • Wandzel, Marion;
    • Lambert, Laëtitia;
    • Frismand, Solène;
    • Douarinou, Marian;
    • Grosset, Anais;
    • Bekkour, Ines;
    • Weber, Frédéric;
    • Girardier, Florent;
    • Robin, Clément;
    • Cacciatore, Stéphanie;
    • Bronner, Myriam;
    • Pourié, Carine;
    • Dreumont, Natacha;
    • Puisieux, Salomé;
    • Iruzubieta, Pablo;
    • Dicaire, Marie-Josée
    Publication type:
    Article
    16

    Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 16, p. 3306, doi. 10.1093/hmg/ddt187
    By:
    • Van Maldergem, Lionel;
    • Hou, Qingming;
    • Kalscheuer, Vera M.;
    • Rio, Marlène;
    • Doco-Fenzy, Martine;
    • Medeira, Ana;
    • de Brouwer, Arjan P.M.;
    • Cabrol, Christelle;
    • Haas, Stefan A.;
    • Cacciagli, Pierre;
    • Moutton, Sébastien;
    • Landais, Emilie;
    • Motte, Jacques;
    • Colleaux, Laurence;
    • Bonnet, Céline;
    • Villard, Laurent;
    • Dupont, Juliette;
    • Man, Heng-Ye
    Publication type:
    Article
    17

    Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63642
    By:
    • Blanc, Albin;
    • Bonnet, Céline;
    • Wandzel, Marion;
    • Roth, Virginie;
    • Duffourd, Yannis;
    • Safraou, Hanna;
    • Leheup, Bruno;
    • Muller, Florence;
    • D Colne, Julie;
    • Feillet, François;
    • Schmitt, Emmanuelle;
    • Castro, Matheus;
    • Savatt, Jullian;
    • Burcheri, Adriano;
    • Nemos, Christophe;
    • Philippe, Christophe;
    • Lambert, Laëtitia
    Publication type:
    Article
    18
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    Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1008, doi. 10.1002/ajmg.a.36856
    By:
    • Chatron, Nicolas;
    • Haddad, Véronique;
    • Andrieux, Joris;
    • Désir, Julie;
    • Boute, Odile;
    • Dieux, Anne;
    • Baumann, Clarisse;
    • Drunat, Séverine;
    • Gérard, Marion;
    • Bonnet, Céline;
    • Leheup, Bruno;
    • Till, Marianne;
    • Rossi, Massimiliano;
    • Flori, Elisabeth;
    • Alembik, Yves;
    • Stewart, Helen;
    • McParland, Joanna;
    • Bernardini, Laura;
    • Castelluccio, Pia;
    • Roos, Laura
    Publication type:
    Article
    20
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    Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1633, doi. 10.1002/ajmg.a.35423
    By:
    • Thierry, Gaelle;
    • Bénéteau, Claire;
    • Pichon, Olivier;
    • Flori, Elisabeth;
    • Isidor, Bertrand;
    • Popelard, Françoise;
    • Delrue, Marie-Ange;
    • Duboscq-Bidot, Laetitia;
    • Thuresson, Ann-Charlotte;
    • van Bon, Bregje W.M.;
    • Cailley, Dorothée;
    • Rooryck, Caroline;
    • Paubel, Agathe;
    • Metay, Corinne;
    • Dusser, Anne;
    • Pasquier, Laurent;
    • Béri, Mylène;
    • Bonnet, Céline;
    • Jaillard, Sylvie;
    • Dubourg, Christèle
    Publication type:
    Article
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    Atypical phenotype of a patient with Bardet–Biedl syndrome type 4.

    Published in:
    Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1869
    By:
    • Sloboda, Natacha;
    • Lambert, Laetitia;
    • Ciorna, Viorica;
    • Bruel, Ange‐Line;
    • Tran Mau‐Them, Frédéric;
    • Gomola, Vladimir;
    • Lemelle, Jean‐Louis;
    • Klein, Olivier;
    • Camoin‐Schweitzer, Marie‐Christine;
    • Magnavacca, Marie;
    • Legagneur, Carole;
    • Ezsto, Marie‐Laure;
    • Bonnet, Céline;
    • Philippe, Christophe;
    • Leheup, Bruno
    Publication type:
    Article
    29
    30

    5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.

    Published in:
    Cancers, 2021, v. 13, n. 13, p. 3171, doi. 10.3390/cancers13133171
    By:
    • Caputo, Sandrine M.;
    • Telly, Dominique;
    • Briaux, Adrien;
    • Sesen, Julie;
    • Ceppi, Maurizio;
    • Bonnet, Françoise;
    • Bourdon, Violaine;
    • Coulet, Florence;
    • Castera, Laurent;
    • Delnatte, Capucine;
    • Hardouin, Agnès;
    • Mazoyer, Sylvie;
    • Schultz, Inès;
    • Sevenet, Nicolas;
    • Uhrhammer, Nancy;
    • Bonnet, Céline;
    • Tilkin-Mariamé, Anne-Françoise;
    • Houdayer, Claude;
    • Moncoutier, Virginie;
    • Andrieu, Catherine
    Publication type:
    Article
    31

    Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1457, doi. 10.1038/ejhg.2013.22
    By:
    • Bonnet, Céline;
    • Ali Khan, Asma;
    • Bresso, Emmanuel;
    • Vigouroux, Charlène;
    • Béri, Mylène;
    • Lejczak, Sarah;
    • Deemer, Bénédicte;
    • Andrieux, Joris;
    • Philippe, Christophe;
    • Moncla, Anne;
    • Giurgea, Irina;
    • Devignes, Marie-Dominique;
    • Leheup, Bruno;
    • Jonveaux, Philippe
    Publication type:
    Article
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    Natural History and Phenotypic Spectrum of GAA‐FGF14 Sporadic Late‐Onset Cerebellar Ataxia (SCA27B).

    Published in:
    Movement Disorders, 2023, v. 38, n. 10, p. 1950, doi. 10.1002/mds.29560
    By:
    • Wirth, Thomas;
    • Clément, Guillemette;
    • Delvallée, Clarisse;
    • Bonnet, Céline;
    • Bogdan, Thomas;
    • Iosif, Andra;
    • Schalk, Audrey;
    • Chanson, Jean‐Baptiste;
    • Pellerin, David;
    • Brais, Bernard;
    • Roth, Virginie;
    • Wandzel, Marion;
    • Fleury, Marie‐Céline;
    • Piton, Amélie;
    • Calmels, Nadège;
    • Namer, Izzie Jacques;
    • Kremer, Stéphane;
    • Tranchant, Christine;
    • Renaud, Mathilde;
    • Anheim, Mathieu
    Publication type:
    Article
    36

    Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".

    Published in:
    Movement Disorders, 2023, v. 38, n. 8, p. 1575, doi. 10.1002/mds.29552
    By:
    • Pellerin, David;
    • Iruzubieta, Pablo;
    • Tekgül, Şeyma;
    • Danzi, Matt C.;
    • Ashton, Catherine;
    • Dicaire, Marie‐Josée;
    • Wandzel, Marion;
    • Roth, Virginie;
    • Lamont, Phillipa J.;
    • Bonnet, Céline;
    • Renaud, Mathilde;
    • Synofzik, Matthis;
    • Zuchner, Stephan;
    • Brais, Bernard;
    • Başak, Nazlı A.;
    • Houlden, Henry
    Publication type:
    Article
    37
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    Scale-Up of Academic Mesenchymal Stromal Cell Production.

    Published in:
    Journal of Clinical Medicine, 2023, v. 12, n. 13, p. 4414, doi. 10.3390/jcm12134414
    By:
    • Laroye, Caroline;
    • Gauthier, Mélanie;
    • Morello, Jessica;
    • Charif, Naceur;
    • Cannard, Véronique Latger;
    • Bonnet, Céline;
    • Lozniewski, Alain;
    • Tchirkov, Andrei;
    • De Isla, Natalia;
    • Decot, Véronique;
    • Reppel, Loïc;
    • Bensoussan, Danièle
    Publication type:
    Article
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    Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.

    Published in:
    2019
    By:
    • El Khattabi, L. Allach;
    • Brun, S.;
    • Gueguen, P.;
    • Chatron, N.;
    • Guichoux, E.;
    • Schutz, S.;
    • Nectoux, J.;
    • Sorlin, A.;
    • Quere, M.;
    • Boudjarane, J.;
    • Tsatsaris, V.;
    • Mandelbrot, L.;
    • Schluth‐Bolard, C.;
    • Dupont, J. M.;
    • Rooryck, C.;
    • Cormier, Alexandre;
    • Ferec, Claude;
    • Da Foncesca Pipoli, Juliana;
    • Letourneur, Franck;
    • Bonnet, Céline
    Publication type:
    journal article
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    Toxicity of TiO2 Nanoparticles: Validation of Alternative Models.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 14, p. 4855, doi. 10.3390/ijms21144855
    By:
    • Leroux, Mélanie M.;
    • Doumandji, Zahra;
    • Chézeau, Laetitia;
    • Gaté, Laurent;
    • Nahle, Sara;
    • Hocquel, Romain;
    • Zhernovkov, Vadim;
    • Migot, Sylvie;
    • Ghanbaja, Jafar;
    • Bonnet, Céline;
    • Schneider, Raphaël;
    • Rihn, Bertrand H.;
    • Ferrari, Luc;
    • Joubert, Olivier
    Publication type:
    Article
    47

    Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?

    Published in:
    Journal of Neurology, 2024, v. 271, n. 4, p. 2078, doi. 10.1007/s00415-024-12182-x
    By:
    • Wirth, Thomas;
    • Bonnet, Céline;
    • Delvallée, Clarisse;
    • Pellerin, David;
    • Bogdan, Thomas;
    • Clément, Guillemette;
    • Schalk, Audrey;
    • Chanson, Jean-Baptiste;
    • Fleury, Marie-Céline;
    • Piton, Amélie;
    • Calmels, Nadège;
    • Namer, Izzie Jacques;
    • Kremer, Stéphane;
    • Brais, Bernard;
    • Tranchant, Christine;
    • Renaud, Mathilde;
    • Anheim, Mathieu
    Publication type:
    Article
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