Zoekresultaten - Christel Thauvin

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  1. 1
    Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

    Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study door Christel Thauvin‐Robinet

    Gepubliceerd in 2005
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  2. 2
    Update on oral-facial-digital syndromes (OFDS)

    Update on oral-facial-digital syndromes (OFDS) door Brunella Franco, Christel Thauvin‐Robinet

    Gepubliceerd in 2016
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  3. 3
    Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking

    Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking door Romain Da Costa, Morgane Bordessoules, Magali Guilleman, Virginie Carmignac, Vincent Lhussiez, Hortense Courot, Amandine Bataille, Amandine Chlémaire, Céline Bruno, Patricia Fauque, Christel Thauvin, Laurence Faivre, Laurence Duplomb

    Gepubliceerd in 2019
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  4. 4
    A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

    A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease door Philippe Latour, Christel Thauvin‐Robinet, Chantal Baudelet-Méry, P Soichot, Véronica Cusin, Laurence Faivre, Marie-Claire Locatelli, Martine Mayençon, Annie Sarcey, Emmanuel Broussolle, William Camu, Albert David, Robert Rousson

    Gepubliceerd in 2010
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  5. 5
    A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

    A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia door Gaël Nicolas, Agnès Jacquin, Christel Thauvin‐Robinet, Anne Rovelet‐Lecrux, Olivier Rouaud, Cyril Pottier, Marie‐Hélène Aubriot‐Lorton, Stéphane Rousseau, David Wallon, C. Duvillard, Yannick Béjot, Thierry Frébourg, Maurice Giroud, Dominique Campion, Didier Hannequin

    Gepubliceerd in 2014
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  6. 6
    De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

    De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise door Karin Writzl, Aleš Maver, Lidija Kovačič, Paula Martínez-Valero, Laura Contreras, Jorgina Satrústegui, Marco Castori, Laurence Bonhomme‐Faivre, Pablo Lapunzina, André B. P. Kuilenburg, Slobodanka Radović, Christel Thauvin‐Robinet, Borut Peterlin, Araceli del Arco, Raoul C. M. Hennekam

    Gepubliceerd in 2017
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  7. 7
    Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

    Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes door Leire Madariaga, Vincent Morinière, Marc Jeanpierre, Raymonde Bouvier, Philippe Loget, Jéléna Martinovic, Pierre Déchelotte, Nathalie Leporrier, Christel Thauvin-Robinet, Uffe Birk Jensen, Dominique Gaillard, Michèle Mathieu, Bruno Turlin, Tania Attié‐Bitach, Rémi Salomon, Marie‐Claire Gubler, Corinne Antignac, Laurence Heidet

    Gepubliceerd in 2013
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  8. 8
    Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

    Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families door Marjorlaine Willems, D. Genevieve, Guntram Borck, Clarisse Baumann, Geneviève Baujat, Éric Bieth, Patrick Edery, Chantal Farra, M. Gerard, Delphine Héron, Bruno Leheup, M Le Merrer, Stanislas Lyonnet, Dominique Martin–Coignard, M Mathieu, Christel Thauvin‐Robinet, Alain Verloès, Laurence Colleaux, Arnold Münnich, Valérie Cormier‐Daire

    Gepubliceerd in 2009
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  9. 9
    Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

    Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing door Ange‐Line Bruel, Sophie Nambot, Virginie Quéré, Antonio Vitobello, Julien Thévenon, Mirna Assoum, Sébastien Moutton, Nada Houcinat, Daphné Lehalle, Nolwenn Jean‐Marçais, Martin Chevarin, Thibaud Jouan, Charlotte Pöe, Patrick Callier, Emilie Tisserand, Christophe Philippe, Frédéric Tran Mau‐Them, Yannis Duffourd, Laurence Faivre, Christel Thauvin‐Robinet

    Gepubliceerd in 2019
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  10. 10
    Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

    Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma door Jean- Benoît Courcet, Siham Chafai Elalaoui, Laurence Duplomb, Mariam Tajir, Jean‐Baptiste Rivière, Julien Thévenon, Nadège Gigot, Nathalie Marle, Bernard Aral, Yannis Duffourd, Alain Sarasin, Valeria Naim, Emilie Courcet-Degrolard, Marie Hélène Aubriot-Lorton, Laurent Martin, Jamal Eddin Abrid, Christel Thauvin, Abdelaziz Sefiani, P. Vabres, Laurence Faivre

    Gepubliceerd in 2014
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  11. 11
    MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

    MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone door Chunmei Li, Victor L. Jensen, Kwangjin Park, Julie Kennedy, Francesc R. García-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet, Jeremy F. Reiter, Oliver E. Blacque, Enza Maria Valente, Michel R. Leroux

    Gepubliceerd in 2016
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  12. 12
    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition door Amélie Piton, Hélène Poquet, Claire Redin, Alice Masurel, Julia Lauer, Jean Muller, Julien Thévenon, Yvan Herenger, Sophie Chancenotte, Marlène Bonnet, Jean‐Michel Pinoit, Frédéric Huet, Christel Thauvin‐Robinet, Anne-Sophie Jaeger, Stéphanie Le Gras, Bernard Jost, Bénédicte Gérard, Katell Peoc’h, Jean‐Marie Launay, Laurence Faivre, Jean‐Louis Mandel

    Gepubliceerd in 2013
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  13. 13
    OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome

    OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome door Véronique Chevrier, Ange‐Line Bruel, Teunis J. P. van Dam, Brunella Franco, Melissa Lo Scalzo, Frédérique Lembo, Stéphane Audebert, Emilie Baudelet, Daniel Isnardon, Angélique Bôle, Jean‐Paul Borg, Paul Kuentz, Julien Thévenon, Lydie Bürglen, Laurence Faivre, Jean‐Baptiste Rivière, Martijn A. Huynen, Daniel Birnbaum, Olivier Rosnet, Christel Thauvin‐Robinet

    Gepubliceerd in 2015
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  14. 14
    High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

    High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease door Cyril Pottier, Didier Hannequin, Sophie Coutant, Anne Rovelet‐Lecrux, David Wallon, Simon Rousseau, Solenn Legallic, Claire Paquet, Stéphanie Bombois, Jérémie Pariente, C. Thomas-Antérion, Agnès Michon, Bernard Croisile, Frédérique Etcharry‐Bouyx, Claudine Berr, Dartigues Jf, Philippe Amouyel, Hélène Dauchel, Claire Boutoleau‐Bretonnière, Christel Thauvin, Thierry Frébourg, Jean‐Charles Lambert, Dominique Campion

    Gepubliceerd in 2012
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  15. 15
    12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

    12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech door Julien Thévenon, Patrick Callier, Joris Andrieux, Bruno Delobel, Albert David, Sylvie Sukno, Delphine Minot, Laure Mosca Anne, Nathalie Marle, Damien Sanlaville, Marlène Bonnet, Alice Masurel‐Paulet, Fabienne Levy, Lorraine Gaunt, Sandra A. Farrell, Cédric Le Caignec, Annick Toutain, Virginie Carmignac, Francine Mugneret, Jill Clayton‐Smith, Christel Thauvin‐Robinet, Laurence Faivre

    Gepubliceerd in 2012
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  16. 16
    SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

    SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia door Cécilia Marelli, Joyce van de Leemput, Janel O. Johnson, François Tison, Christel Thauvin-Robinet, Fabienne Picard, Christine Tranchant, Dena G. Hernandez, Bernard Huttin, J Boulliat, I Sangla, Christian Marescaux, Serge Brique, Hélène Dollfus, Sampath Arepalli, Isabelle Bénatru, Elisabeth Ollagnon, Sylvie Forlani, John Hardy, Giovanni Stévanin, Alexandra Dürr, Andrew Singleton, Alexis Brice

    Gepubliceerd in 2011
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  17. 17
    OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

    OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin door Karlien L. M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y. Kroes, Stef J.F. Letteboer, Lock Hock Ngu, Bartłomiej Budny, Erwin van Wijk, Nicholas T. Gorden, Malika Azhimi, Christel Thauvin‐Robinet, Joris A. Veltman, Mireille Boink, Tjitske Kleefstra, Frans P.M. Cremers, Hans van Bokhoven, Arjan P.M. de Brouwer

    Gepubliceerd in 2009
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  18. 18
    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype door Marie‐Lorraine Monin, Cyril Mignot, Pascale de Lonlay, Bénédicte Héron, Alice Masurel, Michèle Mathieu‐Dramard, C Lenaerts, Christel Thauvin, Marion Gérard, Emmanuel Roze, Aurélia Jacquette, Perrine Charles, Claire De Barace, Valérie Drouin‐Garraud, Philippe Khau Van Kien, Valérie Cormier‐Daire, M. Mayer, Hélène Ogier, Alexis Brice, Nathalie Seta, Delphine Héron

    Gepubliceerd in 2014
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  19. 19
    Cohen syndrome is associated with major glycosylation defects

    Cohen syndrome is associated with major glycosylation defects door Laurence Duplomb, Sandrine Duvet, Damien Picot, Gaëtan Jégo, Salima El Chehadeh-Djebbar, Nathalie Marle, Nadège Gigot, Bernard Aral, Virginie Carmignac, Julien Thévenon, Estelle Lopez, Jean‐Baptiste Rivière, André Klein, Christophe Philippe, Nathalie Droin, Edward Blair, François Girodon, Jean Donadieu, Christine Bellanné‐Chantelot, Laurent Delva, Jean‐Claude Michalski, Éric Solary, Laurence Faivre, François Foulquier, Christel Thauvin‐Robinet

    Gepubliceerd in 2013
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  20. 20
    SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

    SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations door Stéphanie Millecamps, François Salachas, C. Cazeneuve, Gordon Gilbert, Bernard Bricka, A. Camuzat, Léna Guillot‐Noël, Odile Russaouen, Gaëlle Bruneteau, Pierre‐François Pradat, Nadine Le Forestier, N. Vandenberghe, Véronique Danel-Brunaud, Nathalie Guy, Christel Thauvin-Robinet, Lucette Lacomblez, P. Couratier, Didier Hannequin, Danielle Seilhean, Isabelle Le Ber, P. Corcia, William Camu, Alexis Brice, Guy A. Rouleau, Eric Leguern, Vincent Meininger

    Gepubliceerd in 2010
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