檢索結果 - Flora Silbermann

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  1. 1
    Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

    Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes 由 Géraldine Mollet, Flora Silbermann, Marion Delous, Rémi Salomon, Corinne Antignac, Sophie Saunier

    出版 2005
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  2. 2
    Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis

    Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis 由 Sophie Saunier, Joaquim Calado, France Benessy, Flora Silbermann, Roland Heilig, Jean Weissenbach, Corinne Antignac

    出版 2000
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  3. 3
    Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

    Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6 由 Marion Delous, Nathan E. Hellman, Helori-Maël Gaudé, Flora Silbermann, André Le Bivic, Rémi Salomon, Corinne Antignac, Sophie Saunier

    出版 2009
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  4. 4
    Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

    Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis 由 Martin Konrad, Sophie Saunier, Laurence Heidet, Flora Silbermann, Joaquim Calado, Denis Le Paslier, M. Broyer, Marie‐Claire Gubler, Corinne Antignac

    出版 1996
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  5. 5
    Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity

    Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity 由 Alexia Mahuzier, Helori-Maël Gaudé, Valentina Grampa, Isabelle Anselme, Flora Silbermann, Margot Leroux‐Berger, Delphine Delacour, Jérôme Ezan, Mireille Montcouquiol, Sophie Saunier, Sylvie Schneider‐Maunoury, Christine Vesque

    出版 2012
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  6. 6
    Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

    Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans 由 Camille Humbert, Flora Silbermann, Bharti Morar, Mélanie Parisot, Mohammed Zarhrate, Cécile Masson, Frédéric Torès, Patricia Blanchet, Marie-José Perez, Yuliya Petrov, Philippe Khau Van Kien, J. Roume, Brigitte Leroy, Olivier Gribouval, Luba Kalaydjieva, Laurence Heidet, Rémi Salomon, Corinne Antignac, Alexandre Benmerah, Sophie Saunier, Marc Jeanpierre

    出版 2014
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  7. 7
    A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS

    A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS 由 Evelyne Huynh Cong, Albane A. Bizet, Olivia Boyer, Stéphanie Woerner, Olivier Gribouval, Emilie Filhol, Christelle Arrondel, Sophie Thomas, Flora Silbermann, Guillaume Canaud, J. Hachicha, Nasr Ben Dhia, Marie‐Noelle Péraldi, Kais Harzallah, Daouia Iftene, Laurent Daniel, Marjolaine Willems, Laure‐Hélène Noël, Christine Bôle‐Feysot, Patrick Nitschké, Marie‐Claire Gubler, Géraldine Mollet, Sophie Saunier, Corinne Antignac

    出版 2014
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  8. 8
    Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

    Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation 由 Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau‐Frachon, Isabelle Rouvet, Jean‐Luc Alessandri, Louise Devisme, Anne Dieux‐Coëslier, Marie‐Pierre Cordier, Yline Capri, Suonavy Khung‐Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie‐Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié‐Bitach, Marc Jeanpierre, Sophie Saunier

    出版 2016
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  9. 9
    Agonists of prostaglandin E <sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathies

    Agonists of prostaglandin E <sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathies 由 Hugo García, Alice Serafin, Flora Silbermann, Esther Porée, Amandine Viau, Clémentine Mahaut, Katy Billot, Éléonore Birgy, Meriem Garfa-Traoré, Stéphanie Roy, Salomé Ceccarelli, Manon Mehraz, Pamela C. Rodriguez, Bérangère Deleglise, Laetitia Furio, Fabienne Jabot‐Hanin, Nicolas Cagnard, Elaine Del Nery, Marc Fila, Soraya Sin-Monnot, Corinne Antignac, Stanislas Lyonnet, Pauline Krug, Rémi Salomon, Jean‐Philippe Annereau, Alexandre Benmerah, Marion Delous, Luis Briseño-Roa, Sophie Saunier

    出版 2022
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  10. 10
    Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

    Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice 由 Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Torès, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bôle‐Feysot, Patrick Nitschké, J. Roume, Marie‐Pierre Cordier, Christine Piétrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzalès, Marie‐Hélène Saint‐Frison, Jéléna Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C. Verma, Ratna Dua Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Saïd-Menthon, Laurence Heidet, Sophie Saunier, Marc Jeanpierre

    出版 2017
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