Torthaí cuardaigh - Alexandra Afenjar

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  1. 1
    Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum

    Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum de réir Claire Ewenczyk, A Leroux, Anne Roubergue, Vincent Laugel, Alexandra Afenjar, Jean Marie Saudubray, P Beauvais, T Billette de Villemeur, Marie Vidailhet, Emmanuel Roze

    Foilsithe / Cruthaithe 2008
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    Revisão
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  2. 2
    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations

    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations de réir Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo, Ilias Tzelepis, Estelle Colin, Catherine Badens, Alexandra Afenjar, Anne Dieux Coeslier, Thomas Dailland, Gaëtan Lesca, Nicole Philip, Laurent Villard

    Foilsithe / Cruthaithe 2015
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  3. 3
    Key clinical features to identify girls with CDKL5 mutations

    Key clinical features to identify girls with CDKL5 mutations de réir Nadia Bahi‐Buisson, Juliette Nectoux, Haydeé Rosas‐Vargas, Mathieu Milh, Nathalie Boddaert, Benoı̂t Girard, Claude Cancès, Dorothée Ville, Alexandra Afenjar, Marlène Rio, Delphine Héron, Marie Ange N'Guyen Morel, Alexis Arzimanoglou, Christophe Philippe, Philippe Jonveaux, Jamel Chelly, Thierry Bienvenu

    Foilsithe / Cruthaithe 2008
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    Artigo
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  4. 4
    Spectrum of epilepsy in terminal 1p36 deletion syndrome

    Spectrum of epilepsy in terminal 1p36 deletion syndrome de réir Nadia Bahi‐Buisson, Eva Guttierrez‐Delicado, Christine Soufflet, Marlène Rio, Valérie Cormier‐Daire, Didier Lacombe, Delphine Héron, Alain Verloès, Sameer M. Zuberi, Lydie Bürglen, Alexandra Afenjar, Marie Laure Moutard, Patrick Edery, Antonio Novelli, Laura Bernardini, Olivier Dulac, Rima Nabbout, Perrine Plouin, Agatino Battaglia

    Foilsithe / Cruthaithe 2007
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    Artigo
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  5. 5
    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders de réir Caroline Nava, Boris Keren, Cyril Mignot, Agnès Rastetter, Sandra Chantot‐Bastaraud, Anne Faudet, Eric Fonteneau, Claire Amiet, Claudine Laurent, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Diane Doummar, Nathalie Dorison, Marion Leboyer, Jean‐Pierre Siffroi, David Cohen, Alexis Brice, Delphine Héron, Christel Depienne

    Foilsithe / Cruthaithe 2013
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    Artigo
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  6. 6
    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient de réir Lydie Bürglen, Sandra Chantot‐Bastaraud, Cathérine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leïla Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean‐Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

    Foilsithe / Cruthaithe 2012
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    Artigo
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  7. 7
    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome

    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome de réir Pascale Saugier‐Veber, Céline Bonnet, Alexandra Afenjar, Valérie Drouin‐Garraud, Christine Coubes, Séverine Fehrenbach, Muriel Holder‐Espinasse, J. Roume, Valérie Malan, Marie‐France Portnoï, Nicolas Jeanne, Clarisse Baumann, Delphine Héron, Albert David, Marion Gérard, Dominique Bonneau, Didier Lacombe, Valérie Cormier‐Daire, Thierry Billette de Villemeur, Thierry Frébourg, Lydie Bürglen

    Foilsithe / Cruthaithe 2007
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    Artigo
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  8. 8
    Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

    Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females de réir Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, B Benyahia, Chloé Quēlin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi‐Buisson, Isabelle Gourfinkel‐An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric Leguern

    Foilsithe / Cruthaithe 2009
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    Artigo
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  9. 9
    Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

    Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE de réir Caroline Nava, Foudil Lamari, Delphine Héron, Cyril Mignot, Agnès Rastetter, Boris Keren, David Cohen, Anne Faudet, Delphine Bouteiller, Martine Gilleron, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Claudine Laurent, Céline Dupuits, Cécile Gautier, Marion Gérard, Guillaume Huguet, S Caillet, Bruno Leheup, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron, Alexis Brice, Christel Depienne

    Foilsithe / Cruthaithe 2012
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  10. 10
    Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations

    Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations de réir Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy J. Maarup, Dean Sarco, Alexandra Afenjar, A.H.M. Mahbubul Huq, Mary K. Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic

    Foilsithe / Cruthaithe 2019
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    Artigo
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  11. 11
    A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

    A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels de réir Affef Abidi, Jérôme Devaux, Florence Molinari, Gisèle Alcaraz, François-Xavier Michon, Julie Sutera-Sardo, Hélène Becq, Caroline Lacoste, Cécilia Altuzarra, Alexandra Afenjar, Cyril Mignot, Diane Doummar, Bertrand Isidor, Sylvie N. Guyen, Estelle Colin, Sabine de la Vaissière, Damien Haye, Adeline Trauffler, Catherine Badens, Fabienne Prieur, Gaëtan Lesca, Laurent Villard, Mathieu Milh, Laurent Aniksztejn

    Foilsithe / Cruthaithe 2015
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    Artigo
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  12. 12
    Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

    Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction de réir Julia Wang, Justine Rousseau, Emily Kim, Sophie Ehresmann, Yi-Ting Cheng, Lita Duraine, Zhongyuan Zuo, Ye-Jin Park, David Li‐Kroeger, Weimin Bi, Lee-Jun Wong, Jill A. Rosenfeld, Joseph G. Gleeson, Eissa Faqeih, Fowzan S. Alkuraya, Klaas J. Wierenga, Jiani Chen, Alexandra Afenjar, Caroline Nava, Diane Doummar, Boris Keren, Jane Juusola, Markus Grompe, Hugo J. Bellen, Philippe M. Campeau

    Foilsithe / Cruthaithe 2019
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    Artigo
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  13. 13
    OXR1 maintains the retromer to delay brain aging under dietary restriction

    OXR1 maintains the retromer to delay brain aging under dietary restriction de réir Kenneth A. Wilson, Sudipta Bar, Eric B. Dammer, Enrique M. Carrera, Brian A. Hodge, Tyler Hilsabeck, Joanna Bons, George Brownridge, Jennifer Beck, Jacob Rose, Melia Granath-Panelo, Christopher S. Nelson, Grace Qi, Akos A. Gerencser, Jianfeng Lan, Alexandra Afenjar, Geetanjali Chawla, Rachel B. Brem, Philippe M. Campeau, Hugo J. Bellen, Birgit Schilling, Nicholas T. Seyfried, Lisa Ellerby, Pankaj Kapahi

    Foilsithe / Cruthaithe 2024
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    Artigo
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  14. 14
    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients de réir Elouan Chérot, Boris Keren, Christèle Dubourg, Wilfried Carré, Mélanie Fradin, Alinoë Lavillaureix, Alexandra Afenjar, Lydie Bürglen, Sandra Whalen, Perrine Charles, Isabelle Marey, Solveig Heide, Aurélia Jacquette, Delphine Héron, Diane Doummar, Diana Rodriguez, T Billette de Villemeur, M.L. Moutard, Agnès Guët, Jean Xavier, Didier Périsse, David Cohen, Florence Démurger, Chloé Quēlin, Christel Depienne, Sylvie Odent, Caroline Nava, Véronique David, Laurent Pasquier, Cyril Mignot

    Foilsithe / Cruthaithe 2017
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  15. 15
    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic ence... de réir Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, Cathérine Garel, Sandra Chantot‐Bastaraud, Élodie Lainey, Alexandra Afenjar, Marie-Anne Barthez, Nathalie Bednarek, Diane Doummar, Laurence Faivre, Cyril Goizet, Damien Haye, Bénédicte Héron, Isabelle Kemlin, Didier Lacombe, Mathieu Milh, Marie‐Laure Moutard, Florence Riant, Stéphanie Robin, Agathe Roubertie, Pierre Sarda, Annick Toutain, Laurent Villard, Dorothée Ville, Thierry Billette de Villemeur, Diana Rodriguez, Lydie Bürglen

    Foilsithe / Cruthaithe 2018
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  16. 16
    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases

    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases de réir Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi, Pierre Cacciagli, Cécilia Altuzarra, Agathe Roubertie, Alexandra Afenjar, Florence Renaldo‐Robin, Bertrand Isidor, Agnès Gautier, Marie Husson, Claude Cancès, Julia Métreau, Cécile Laroche, Mondher Chouchane, Dorothée Ville, Stéphanie Marignier, Christelle Rougeot, Marine Lebrun, Anne de Saint Martin, Alexandra Perez, Audrey Riquet, Catherine Badens, Chantal Missirian, Nicole Philip, B. Chabrol, Laurent Villard, Mathieu Milh

    Foilsithe / Cruthaithe 2015
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  17. 17
    Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

    Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 de réir Mathieu Milh, Nadia Boutry‐Kryza, Julie Sutera-Sardo, Cyril Mignot, Stéphane Auvin, Caroline Lacoste, Nathalie Villeneuve, Agathe Roubertie, Bénédicte Héron, Maryline Carneiro, Anna Kaminśka, Cécilia Altuzarra, Gaëlle Blanchard, Dorothée Ville, Marie Anne Barthez, Delphine Héron, Domitille Gras, Alexandra Afenjar, Nathalie Dorison, D. Doummar, Thierry Billette de Villemeur, Isabelle An, Aurélia Jacquette, Perrine Charles, Julie Perrier, Bertrand Isidor, Laurent Vercueil, B. Chabrol, Catherine Badens, Gaëtan Lesca, Laurent Villard

    Foilsithe / Cruthaithe 2013
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  18. 18
    Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

    Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome de réir Michael Bauer, Uwe Kölsch, Renate Krüger, Nadine Unterwalder, Karin Hameister, Fabian Kaiser, Aglaia Vignoli, Rainer Rossi, M.P. Botella, Magdalena Budişteanu, Mónica Roselló, Carmen Orellana, María‐Isabel Tejada, Sorina Mihaela Papuc, O. Patat, Sophie Julia, Renaud Touraine, Thusari Gomes, K. Wenner, Xiu Xu, Alexandra Afenjar, Annick Toutain, Nicole Philip, Aleksandra Jezela‐Stanek, Ludwig Gortner, Francisco Martı́nez, Bernard Échenne, V. Wahn, Christian Meisel, Dagmar Wieczorek, Salima El-Chehadeh, Hilde Van Esch, Horst von Bernuth

    Foilsithe / Cruthaithe 2015
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  19. 19
    Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

    Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes de réir Marie Coutelier, Monia Hammer, Giovanni Stévanin, Marie‐Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J. Raphael Gibbs, Didier Hannequin, Judith Melki, Annick Toutain, Vincent Laugel, Sylvie Forlani, Perrine Charles, Emmanuel Broussolle, Stéphane Thobois, Alexandra Afenjar, Mathieu Anheim, Patrick Calvas, Giovanni Castelnovo, T. de Broucker, Marie Vidailhet, Antoine Moulignier, Robert T. Ghnassia, Chantal Tallaksen, Cyril Mignot, Cyril Goizet, Isabelle Le Ber, Elisabeth Ollagnon‐Roman, Jean Pouget, Alexis Brice, Andrew Singleton, Alexandra Dürr

    Foilsithe / Cruthaithe 2018
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  20. 20
    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome de réir Sophie Geoffron, Walid Abi Habib, Sandra Chantot‐Bastaraud, B. Dubern, Virginie Steunou, Salah Azzi, Alexandra Afenjar, Tiffany Busa, Ana Pinheiro Machado Canton, Christel Chalouhi, Marie‐Noëlle Dufourg, Blandine Esteva, Mélanie Fradin, David Geneviève, Solveig Heide, Bertrand Isidor, Agnès Linglart, Fanny Morice Picard, Catherine Naud-Saudreau, Isabelle Petit, Nicole Philip, Catherine Pienkowski, Marlène Rio, Sylvie Rossignol, Maïthé Tauber, Julien Thévenon, Thuy-Ai Vu-Hong, Madeleine D. Harbison, Jennifer Ben Salem, Frédéric Brioude, Irène Netchine, Éloïse Giabicani

    Foilsithe / Cruthaithe 2018
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