Výsledky vyhledávání - Corinne Stoetzel

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  1. 1
    Sequence of the twist gene and nuclear localization of its protein in endomesodermal cells of early Drosophila embryos.

    Sequence of the twist gene and nuclear localization of its protein in endomesodermal cells of early Drosophila embryos. Autor Bernard Thisse, Corinne Stoetzel, C. Gorostiza-Thisse, Fabienne Perrin‐Schmitt

    Vydáno 1988
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  2. 2
    AnnotSV: an integrated tool for structural variations annotation

    AnnotSV: an integrated tool for structural variations annotation Autor Véronique Geoffroy, Yvan Herenger, Arnaud Kress, Corinne Stoetzel, Amélie Piton, Hélène Dollfus, Jean Muller

    Vydáno 2018
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  3. 3
    VaRank: a simple and powerful tool for ranking genetic variants

    VaRank: a simple and powerful tool for ranking genetic variants Autor Véronique Geoffroy, Cécile Pizot, Claire Redin, Amélie Piton, Nasim Vasli, Corinne Stoetzel, André Blavier, Jocelyn Laporte, Jean Muller

    Vydáno 2015
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  4. 4
    Pharmacological Modulation of the Retinal Unfolded Protein Response in Bardet-Biedl Syndrome Reduces Apoptosis and Preserves Light Detection Ability

    Pharmacological Modulation of the Retinal Unfolded Protein Response in Bardet-Biedl Syndrome Reduces Apoptosis and Preserves Light Detection Ability Autor Anaïs Mockel, Cathy Obringer, Theodorus B. M. Hakvoort, Mathias W. Seeliger, Wouter H. Lamers, Corinne Stoetzel, Hélène Dollfus, Vincent Marion

    Vydáno 2012
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  5. 5
    Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

    Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation Autor Vincent Marion, Corinne Stoetzel, Dominique Schlicht, Nadia Messaddeq, Michael Koch, Elisabeth Flori, Jean Marc Danse, Jean‐Louis Mandel, Hélène Dollfus

    Vydáno 2009
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  6. 6
    Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption

    Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption Autor Vincent Marion, Dominique Schlicht, Anaïs Mockel, Sophie Caillard, O. Imhoff, Corinne Stoetzel, Paul van Dijk, Christian Brandt, Bruno Moulin, Hélène Dollfus

    Vydáno 2011
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  7. 7
    Bardet-Biedl Syndrome

    Bardet-Biedl Syndrome Autor O. Imhoff, Vincent Marion, Corinne Stoetzel, M. Durand, Muriel Holder, Sabine Sigaudy, Pierre Sarda, Christian P. Hamel, Christian Brandt, Hélène Dollfus, Bruno Moulin

    Vydáno 2010
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  8. 8
    Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

    Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects Autor Agnès Bloch‐Zupan, Xavier Jamet, Christelle Etard, Virginie Laugel, Jean Muller, Véronique Geoffroy, Jean-Pierre Strauss, Valérie Pelletier, Vincent Marion, Olivier Poch, Uwe Strähle, Corinne Stoetzel, Hélène Dollfus

    Vydáno 2011
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  9. 9
    Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

    Osteosclerotic bone dysplasia in siblings with a Fam20C mutation Autor Mélanie Fradin, Corinne Stoetzel, Jean Muller, M. Koob, D. Christmann, Christian Debry, M F Kohler, Monica Isnard, Didier Astruc, P Desprez, C Zorres, Elisabeth Flori, Hélène Dollfus, Bérénice Doray

    Vydáno 2010
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  10. 10
    A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

    A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi Autor Corinne Stoetzel, Séverine Bär, Johan‐Owen De Craene, Sophie Scheidecker, Christelle Etard, Johana Chicher, Jennifer Reck, Isabelle Perrault, Véronique Geoffroy, Kirsley Chennen, Uwe Strähle, Philippe Hammann, Sylvie Friant, Hélène Dollfus

    Vydáno 2016
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  11. 11
    Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit<i>BBIP1</i>(<i>BBS18</i>)

    Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit<i>BBIP1</i>(<i>BBS18</i>) Autor Sophie Scheidecker, Christelle Etard, Nathan W. Pierce, Véronique Geoffroy, Élise Schaefer, Jean Muller, Kirsley Chennen, Elisabeth Flori, Valérie Pelletier, Olivier Poch, Vincent Marion, Corinne Stoetzel, Uwe Strähle, Maxence V. Nachury, Hélène Dollfus

    Vydáno 2013
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  12. 12
    BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response

    BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response Autor Vincent Marion, Anaïs Mockel, Charlie De Melo, Cathy Obringer, Aurélie Claussmann, Alban Simon, Nadia Messaddeq, M. Durand, Luc Dupuis, Jean‐Philippe Loeffler, Peter King, Catherine Schmidt‐Mutter, Nikolai Petrovsky, Corinne Stoetzel, Hélène Dollfus

    Vydáno 2012
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  13. 13
    Frequent genomic abnormalities at <i>TWIST</i> in human pediatric osteosarcomas

    Frequent genomic abnormalities at <i>TWIST</i> in human pediatric osteosarcomas Autor Natacha Entz‐Werlé, Corinne Stoetzel, Perrine Berard-Marec, C Kalifa, Laurence Brugière, Hélène Pacquement, Claudine Schmitt, Marie‐Dominique Tabone, Jean‐Claude Gentet, Robert Quillet, P Oudet, Patrick Lutz, A Babin-Boilletot, Marie‐Pierre Gaub, Fabienne Perrin‐Schmitt

    Vydáno 2005
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  14. 14
    Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

    Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes Autor Claire Redin, Stéphanie Le Gras, O. M'hamdi, Véronique Geoffroy, Corinne Stoetzel, Marie‐Claire Vincent, Pietro Chiurazzi, Didier Lacombe, Inès Ouertani, Florence Petit, Marianne Till, Alain Verloès, Bernard Jost, Habiba Chaâbouni, Hélène Dollfus, Jean‐Louis Mandel, Jean Muller

    Vydáno 2012
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  15. 15
    Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

    Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy Autor Sophie Scheidecker, Christelle Etard, Laurence Haren, Corinne Stoetzel, Sarah Hull, Gavin Arno, Vincent Plagnol, Séverine Drunat, Sandrine Passemard, Annick Toutain, Cathy Obringer, M. Koob, Véronique Geoffroy, Vincent Marion, Uwe Strähle, Pia Østergaard, Alain Verloès, Andreas Merdes, Anthony T. Moore, Hélène Dollfus

    Vydáno 2015
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  16. 16
    Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

    Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort Autor Haifa Hichri, Corinne Stoetzel, Virginie Laurier, Solenne Caron, Sabine Sigaudy, Pierre Sarda, Christian Hamel, Dominique Martin–Coignard, Gilles Morin, Bruno Leheup, Mureille Holder, Josseline Kaplan, Pierre Bitoun, Didier Lacombe, Alain Verloès, Dominique Bonneau, Fabienne Perrin‐Schmitt, Christian Brandt, Anne-Françoise Besancon, Jean‐Louis Mandel, Mireille Cossée, Hélène Dollfus

    Vydáno 2005
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  17. 17
    Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

    Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly Autor Élise Schaefer, Ariane Zaloszyc, Julia Lauer, M. Durand, Fanny Stutzmann, Y. Perdomo-Trujillo, Claire Redin, V. Bennouna Greene, Annick Toutain, Laurence Perrin, Marion Gérard, Sophie Caillard, Xiaoshu Bei, Richard A. Lewis, D Christmann, J. Letsch, M. Kribs, Catherine Schmidt‐Mutter, Jean Muller, Corinne Stoetzel, Michel Fischbach, Vincent Marion, Nicholas Katsanis, Hélène Dollfus

    Vydáno 2010
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  18. 18
    Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

    Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome Autor Corinne Stoetzel, Jean Muller, Virginie Laurier, Erica E. Davis, Norann A. Zaghloul, Serge Vicaire, Cécile Jacquelin, Frédéric Plewniak, Carmen C. Leitch, Pierre Sarda, Christian Hamel, Thomy de Ravel, Richard A. Lewis, Evelyne Friederich, Christelle Thibault-Carpentier, Jean-Marc Danse, Alain Verloès, Dominique Bonneau, Nicholas Katsanis, Olivier Poch, Jean‐Louis Mandel, Hélène Dollfus

    Vydáno 2006
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  19. 19
    Proteasome subunit <i>PSMC3</i> variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

    Proteasome subunit <i>PSMC3</i> variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress Autor Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Élise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A. Zieba, Fouzia Studer, Valérie Pelletier, C. Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kühn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus

    Vydáno 2020
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  20. 20
    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease Autor Jean Muller, Corinne Stoetzel, M. C. Vincent, Carmen C. Leitch, Virginie Laurier, Jean Marc Danse, Sophie Hellé, Vincent Marion, V Bennouna-Greene, Serge Vicaire, André Mégarbané, Josseline Kaplan, Valérie Drouin‐Garraud, M. Hamdani, Sabine Sigaudy, Christine Francannet, J. Roume, Pierre Bitoun, Alice Goldenberg, N. Philip, Sylvie Odent, J. Green, Mireille Cossée, Erica E. Davis, Nicholas Katsanis, Dominique Bonneau, Alain Verloès, Olivier Poch, Jean‐Louis Mandel, Hélène Dollfus

    Vydáno 2010
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