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Alternative Transcripts of Dclk1 and Dclk2 and Their Expression in Doublecortin Knockout Mice.
Published in:
Developmental Neuroscience, 2008, v. 30, n. 1-3, p. 171, doi. 10.1159/000109861
By:
- Phan Dinh Tuy, Françoise;
- Saillour, Yoann;
- Kappeler, Caroline;
- Chelly, Jamel;
- Francis, Fiona
Publication type:
Article
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 9, p. 977, doi. 10.1038/ejhg.2012.279
By:
- Vasson, Aurélie;
- Leroux, Céline;
- Orhant, Lucie;
- Boimard, Mathieu;
- Toussaint, Aurélie;
- Leroy, Chrystel;
- Commere, Virginie;
- Ghiotti, Tiffany;
- Deburgrave, Nathalie;
- Saillour, Yoann;
- Atlan, Isabelle;
- Fouveaut, Corinne;
- Beldjord, Cherif;
- Valleix, Sophie;
- Leturcq, France;
- Dodé, Catherine;
- Bienvenu, Thierry;
- Chelly, Jamel;
- Cossée, Mireille
Publication type:
Article
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 4, p. 381, doi. 10.1038/ejhg.2012.195
By:
- Poirier, Karine;
- Saillour, Yoann;
- Fourniol, Franck;
- Francis, Fiona;
- Souville, Isabelle;
- Valence, Stéphanie;
- Desguerre, Isabelle;
- Marie Lepage, Jean;
- Boddaert, Nathalie;
- Line Jacquemont, Marine;
- Beldjord, Cherif;
- Chelly, Jamel;
- Bahi-Buisson, Nadia
Publication type:
Article
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1358, doi. 10.1038/ejhg.2008.103
By:
- Rejeb, Imen;
- Saillour, Yoann;
- Castelnau, Laetitia;
- Julien, Cédric;
- Bienvenu, Thierry;
- Taga, Patricia;
- Chaabouni, Habiba;
- Chelly, Jamel;
- Jemaa, Lamia Ben;
- Bahi-Buisson, Nadia
Publication type:
Article
Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 1, p. 146, doi. 10.1093/hmg/ddv464
By:
- Delépine, Chloé;
- Meziane, Hamid;
- Nectoux, Juliette;
- Opitz, Matthieu;
- Smith, Amos B.;
- Ballatore, Carlo;
- Saillour, Yoann;
- Bennaceur-Griscelli, Annelise;
- Qiang Chang;
- Cunningham Williams, Emily;
- Dahan, Maxime;
- Duboin, Aurélien;
- Billuart, Pierre;
- Herault, Yann;
- Bienvenu, Thierry
Publication type:
Article
Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 6, p. 1516, doi. 10.1093/hmg/ddt538
By:
- Saillour, Yoann;
- Broix, Loïc;
- Bruel-Jungerman, Elodie;
- Lebrun, Nicolas;
- Muraca, Giuseppe;
- Rucci, Julien;
- Poirier, Karine;
- Belvindrah, Richard;
- Francis, Fiona;
- Chelly, Jamel
Publication type:
Article
Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 22, p. 4462, doi. 10.1093/hmg/ddq377
By:
- Poirier, Karine;
- Saillour, Yoann;
- Bahi-Buisson, Nadia;
- Jaglin, Xavier H.;
- Fallet-Bianco, Catherine;
- Nabbout, Rima;
- Castelnau-Ptakhine, Laetitia;
- Roubertie, Agathe;
- Attie-Bitach, Tania;
- Desguerre, Isabelle;
- Genevieve, David;
- Barnerias, Christine;
- Keren, Boris;
- Lebrun, Nicolas;
- Boddaert, Nathalie;
- Encha-Razavi, Féréchté;
- Chelly, Jamel
Publication type:
Article
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 20, p. 3779, doi. 10.1093/hmg/ddp320
By:
- Daoud, Fatma;
- Angeard, Nathalie;
- Demerre, Bénédicte;
- Martie, Itxaso;
- Benyaou, Rabah;
- Leturcq, France;
- Cossée, Mireille;
- Deburgrave, Nathalie;
- Saillour, Yoann;
- Tuffery, Sylvie;
- Urtizberea, Andoni;
- Toutain, Annick;
- Echenne, Bernard;
- Frischman, Martine;
- Mayer, Michèle;
- Desguerre, Isabelle;
- Estournet, Brigitte;
- Réveillère, Christian;
- Penisson-Besnier;
- Cuisset, Jean Marie
Publication type:
Article
Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice.
Published in:
Human Molecular Genetics, 2006, v. 15, n. 13, p. 2183, doi. 10.1093/hmg/ddl139
By:
- Kappeler, Caroline;
- Saillour, Yoann;
- Baudoin, Jean-Pierre;
- Phan Dinh Tuy, Françoise;
- Alvarez, Chantal;
- Houbron, Christophe;
- Gaspar, Patricia;
- Hamard, Ghislaine;
- Chelly, Jamel;
- Métin, Christine;
- Francis, Fiona
Publication type:
Article
Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice.
Published in:
Human Molecular Genetics, 2006, v. 15, n. 9, p. 1387, doi. 10.1093/hmg/ddl062
By:
- Kappeler, Caroline;
- Saillour, Yoann;
- Baudoin, Jean-Pierre;
- Tuy, Françoise Phan Dinh;
- Alvarez, Chantal;
- Houbron, Christophe;
- Gaspar, Patricia;
- Hamard, Ghislaine;
- Chelly, Jamel;
- Métin, Christine;
- Francis, Fiona
Publication type:
Article
Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Published in:
Nature Genetics, 2009, v. 41, n. 6, p. 746, doi. 10.1038/ng.380
By:
- Jaglin, Xavier Hubert;
- Poirier, Karine;
- Saillour, Yoann;
- Buhler, Emmanuelle;
- Guoling Tian;
- Bahi-Buisson, Nadia;
- Fallet-Bianco, Catherine;
- Phan-Dinh-Tuy, Françoise;
- Xiang Peng Kong;
- Pascale Bomont;
- Castelnau-Ptakhine, Laëtitia;
- Odent, Sylvie;
- Loget, Philippe;
- Kossorotoff, Manoelle;
- Snoeck, Irina;
- Plessis, Ghislaine;
- Parent, Philippe;
- Beldjord, Cherif;
- Cardoso, Carlos;
- Represa, Alfonso
Publication type:
Article
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. 1676, doi. 10.1093/brain/awu082
By:
- Bahi-Buisson, Nadia;
- Poirier, Karine;
- Fourniol, Franck;
- Saillour, Yoann;
- Valence, Stéphanie;
- Lebrun, Nicolas;
- Hully, Marie;
- Bianco, Catherine Fallet;
- Boddaert, Nathalie;
- Elie, Caroline;
- Lascelles, Karine;
- Souville, Isabelle;
- Beldjord, Cherif;
- Chelly, Jamel
Publication type:
Article
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 1, p. e199, doi. 10.1093/brain/awr108
By:
- Valayannopoulos, Vassili;
- Michot, Caroline;
- Rodriguez, Diana;
- Hubert, Laurence;
- Saillour, Yoann;
- Labrune, Philippe;
- de Laveaucoupet, Jocelyne;
- Brunelle, Francis;
- Amiel, Jeanne;
- Lyonnet, Stanislas;
- Enza-Razavi, Ferechté;
- Attié-Bitach, Tania;
- Lacombe, Didier;
- Bahi-Buisson, Nadia;
- Desguerre, Isabelle;
- Chelly, Jamel;
- Burglen, Lydie;
- Boddaert, Nathalie;
- de Lonlay, Pascale
Publication type:
Article
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
Published in:
Brain: A Journal of Neurology, 2008, v. 131, n. 9, p. 2304, doi. 10.1093/brain/awn155
By:
- Catherine Fallet-Bianco;
- Laurence Loeuillet;
- Karine Poirier;
- Philippe Loget;
- Françoise Chapon;
- Laurent Pasquier;
- Yoann Saillour;
- Cherif Beldjord;
- Jamel Chelly;
- Fiona Francis
Publication type:
Article
The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity.
Published in:
Journal of Neuroscience, 2017, v. 37, n. 28, p. 6606, doi. 10.1523/JNEUROSCI.3775-16.2017
By:
- Montani, Caterina;
- Ramos-Brossier, Mariana;
- Ponzoni, Luisa;
- Gritti, Laura;
- Cwetsch, Andrzej W.;
- Braida, Daniela;
- Saillour, Yoann;
- Terragni, Benedetta;
- Mantegazza, Massimo;
- Sala, Mariaelvina;
- Verpelli, Chiara;
- Billuart, Pierre;
- Sala, Carlo
Publication type:
Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Published in:
Nature Genetics, 2013, v. 45, n. 8, p. 962, doi. 10.1038/ng0813-962b
By:
- Poirier, Karine;
- Lebrun, Nicolas;
- Broix, Loic;
- Tian, Guoling;
- Saillour, Yoann;
- Boscheron, Cécile;
- Parrini, Elena;
- Valence, Stephanie;
- Pierre, Benjamin Saint;
- Oger, Madison;
- Lacombe, Didier;
- Geneviève, David;
- Fontana, Elena;
- Darra, Franscesca;
- Cances, Claude;
- Barth, Magalie;
- Bonneau, Dominique;
- Bernadina, Bernardo Dalla;
- N'Guyen, Sylvie;
- Gitiaux, Cyril
Publication type:
Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Published in:
Nature Genetics, 2013, v. 45, n. 6, p. 639, doi. 10.1038/ng.2613
By:
- Poirier, Karine;
- Lebrun, Nicolas;
- Broix, Loic;
- Tian, Guoling;
- Saillour, Yoann;
- Boscheron, Cécile;
- Parrini, Elena;
- Valence, Stephanie;
- Pierre, Benjamin Saint;
- Oger, Madison;
- Lacombe, Didier;
- Geneviève, David;
- Fontana, Elena;
- Darra, Franscesca;
- Cances, Claude;
- Barth, Magalie;
- Bonneau, Dominique;
- Bernadina, Bernardo Dalla;
- N'Guyen, Sylvie;
- Gitiaux, Cyril
Publication type:
Article
The intellectual disability protein Oligophrenin‐1 controls astrocyte morphology and migration.
Published in:
Glia, 2020, v. 68, n. 9, p. 1729, doi. 10.1002/glia.23801
By:
- Pillet, Laure‐Elise;
- Cresto, Noémie;
- Saillour, Yoann;
- Ghézali, Grégory;
- Bemelmans, Alexis‐Pierre;
- Livet, Jean;
- Bienvenu, Thierry;
- Rouach, Nathalie;
- Billuart, Pierre
Publication type:
Article
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
Published in:
Human Mutation, 2008, v. 29, n. 9, p. 1083, doi. 10.1002/humu.20829
By:
- Saillour, Yoann;
- Cossée, Mireille;
- Leturcq, France;
- Vasson, Aurélie;
- Beugnet, Caroline;
- Poirier, Karine;
- Commere, Virginie;
- Sublemontier, Sébastien;
- Viel, Marion;
- Letourneur, Franck;
- Barbot, Jean Claude;
- Deburgrave, Nathalie;
- Chelly, Jamel;
- Bienvenu, Thierry
Publication type:
Article
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A ( TUBA1A).
Published in:
Human Mutation, 2007, v. 28, n. 11, p. 1055, doi. 10.1002/humu.20572
By:
- Poirier, Karine;
- Keays, David A.;
- Francis, Fiona;
- Saillour, Yoann;
- Bahi, Nadia;
- Manouvrier, Sylvie;
- Fallet-Bianco, Catherine;
- Pasquier, Laurent;
- Toutain, Annick;
- Tuy, Françoise Phan Dinh;
- Bienvenu, Thierry;
- Joriot, Sylvie;
- Odent, Sylvie;
- Ville, Dorothée;
- Desguerre, Isabelle;
- Goldenberg, Alice;
- Moutard, Marie-Laure;
- Fryns, Jean-Pierre;
- van Esch, Hilde;
- Harvey, Robert J.
Publication type:
Article
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
Published in:
Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9482
By:
- de Brouwer, Arjan P.M.;
- Yntema, Helger G.;
- Kleefstra, Tjitske;
- Lugtenberg, Dorien;
- Oudakker, Astrid R.;
- de Vries, Bert B.A.;
- van Bokhoven, Hans;
- Van Esch, Hilde;
- Frints, Suzanne G.M.;
- Froyen, Guy;
- Fryns, Jean-Pierre;
- Raynaud, Martine;
- Moizard, Marie-Pierre;
- Ronce, Nathalie;
- Bensalem, Anissa;
- Moraine, Claude;
- Poirier, Karine;
- Castelnau, Laetitia;
- Saillour, Yoann;
- Bienvenu, Thierry
Publication type:
Article
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
Published in:
Neurogenetics, 2013, v. 14, n. 3/4, p. 215, doi. 10.1007/s10048-013-0373-x
By:
- Valence, Stéphanie;
- Poirier, Karine;
- Lebrun, Nicolas;
- Saillour, Yoann;
- Sonigo, Pascale;
- Bessières, Bettina;
- Attié-Bitach, Tania;
- Benachi, Alexandra;
- Masson, Cécile;
- Encha-Razavi, Ferechté;
- Chelly, Jamel;
- Bahi-Buisson, Nadia
Publication type:
Article
Mosaic DCX deletion causes subcortical band heterotopia in males.
Published in:
Neurogenetics, 2012, v. 13, n. 4, p. 367, doi. 10.1007/s10048-012-0339-4
By:
- Quélin, Chloé;
- Saillour, Yoann;
- Souville, Isabelle;
- Poirier, Karine;
- N'Guyen-Morel, Marie;
- Vercueil, Laurent;
- Millisher-Bellaiche, Anne;
- Boddaert, Nathalie;
- Dubois, Fanny;
- Chelly, Jamel;
- Beldjord, Cherif;
- Bahi-Buisson, Nadia
Publication type:
Article
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.
Published in:
Neurogenetics, 2010, v. 11, n. 2, p. 251, doi. 10.1007/s10048-009-0224-y
By:
- Zanni, Ginevra;
- Esch, Hilde;
- Bensalem, Anissa;
- Saillour, Yoann;
- Poirier, Karine;
- Castelnau, Laetitia;
- Ropers, Hans;
- Brouwer, Arjan;
- Laumonnier, Fréderic;
- Fryns, Jean-Pierre;
- Chelly, Jamel
Publication type:
Article
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 2, p. 224, doi. 10.1093/hmg/ddx384
By:
- Broix, Loïc;
- Asselin, Laure;
- Silva, Carla G.;
- Ivanova, Ekaterina L.;
- Tilly, Peggy;
- Gilet, Johan G.;
- Lebrun, Nicolas;
- Jagline, Hé lène;
- Muraca, Giuseppe;
- Saillour, Yoann;
- Drouot, Nathalie;
- Reilly, Madeline Louise;
- Francis, Fiona;
- Benmerah, Alexandre;
- Bahi-Buisson, Nadia;
- Belvindrah, Richard;
- Nguyen, Laurent;
- Godin, Juliette D.;
- Chelly, Jamel;
- Hinckelmann, Maria-Victoria
Publication type:
Article

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