نتائج البحث - Vincent Morinière

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  1. 1
    NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence

    NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence حسب Stefanie Weber, Olivier Gribouval, Ernie Esquivel, Vincent Morinière, Marie-Josèphe Tête, Christophe Legendre, Patrick Niaudet, Corinne Antignac

    منشور في 2004
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    Artigo
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  2. 2
    Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

    Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations حسب Pauline Krug, Vincent Morinière, Sandrine Marlin, Valérie Koubi, Heinz Gabriel, Estelle Colin, Dominique Bonneau, Rémi Salomon, Corinne Antignac, Laurence Heidet

    منشور في 2010
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  3. 3
    Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations

    Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations حسب Guillaume Bollée, Karin Dahan, Martin Flamant, Vincent Morinière, Audrey Pawtowski, Laurence Heidet, Didier Lacombe, Olivier Devuyst, Yves Pirson, Corinne Antignac, Bertrand Knebelmann

    منشور في 2011
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    Artigo
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  4. 4
    Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

    Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases حسب Laurence Heidet, Stéphane Decramer, Audrey Pawtowski, Vincent Morinière, Isabel Bandı́n, Bertrand Knebelmann, Anne-Sophie Lèbre, Stanislas Faguer, Vincent Guigonis, Corinne Antignac, Rémi Salomon

    منشور في 2010
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  5. 5
    Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

    Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum حسب Sian Williams, Adam J. Reed, Juris Galvanovskis, Corinne Antignac, Tim Goodship, Fiona E. Karet, Peter Kotanko, Karl Lhotta, Vincent Morinière, Paul F. Williams, William Wong, Patrik Rorsman, Rajesh V. Thakker

    منشور في 2009
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    Artigo
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  6. 6
    Prevalence of Mutations in Renal Developmental Genes in Children with Renal Hypodysplasia

    Prevalence of Mutations in Renal Developmental Genes in Children with Renal Hypodysplasia حسب Stefanie Weber, Vincent Morinière, Tanja Knüppel, Marina Charbit, Ladislav Dušek, Gian Marco Ghiggeri, Augustina Jankauskiené, Sevgı Mır, Giovanni Montini, Amira Peco‐Antić, Elke Wühl, Aleksandra Żurowska, Otto Mehls, Corinne Antignac, Franz Schaefer, Rémi Salomon

    منشور في 2006
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  7. 7
    Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

    Mutations of NPHP2 and NPHP3 in infantile nephronophthisis حسب Kálmán Tory, Caroline Rousset‐Rouvière, Marie‐Claire Gubler, Vincent Morinière, Audrey Pawtowski, C. Becker, C. Guyot, Sophie Gié, Yaacov Frishberg, Hubert Nivet, Georges Deschênes, Pierre Cochat, Marie‐France Gagnadoux, Sophie Saunier, Corinne Antignac, Rémi Salomon

    منشور في 2009
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  8. 8
    Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing

    Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing حسب Vincent Morinière, Karin Dahan, Pascale Hilbert, Marieline Lison, Saïd Lebbah, Alexandra Topa, Christine Bôle‐Feysot, Solenn Pruvost, Patrick Nitschké, Emmanuelle Plaisier, Bertrand Knebelmann, Marie‐Alice Macher, Laure‐Hélène Noël, Marie‐Claire Gubler, Corinne Antignac, Laurence Heidet

    منشور في 2014
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    Artigo
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  9. 9
    Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

    Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes حسب 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

    منشور في 2013
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    Artigo
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  10. 10
    RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

    RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects حسب Marc Jeanpierre, G. Macé, Mélanie Parisot, Vincent Morinière, A. Pawtowsky, Max E. Benabou, Jéléna Martinovic, Jeanne Amiel, Tania Attié‐Bitach, Anne‐Lise Delezoide, Philippe Loget, Patricia Blanchet, Dominique Gaillard, M. Gonzalés, Wassila Carpentier, Patrick Nitschké, Frédéric Torès, Laurence Heidet, Corinne Antignac, Rémi Salomon

    منشور في 2011
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  11. 11
    Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

    Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin حسب Arif B. Ekici, Thomas Hackenbeck, Vincent Morinière, Andrea Pannes, Maike Buettner, Steffen Uebe, Rolf Janka, Antje Wiesener, Ingo Hermann, Sina Grupp, Martin Hornberger, Tobias B. Huber, Nikky Isbel, George Mangos, Stella McGinn, Daniela Soreth-Rieke, Bodo B. Beck, Michael Uder, Kerstin Amann, Corinne Antignac, André Reis, Kai‐Uwe Eckardt, Michael S. Wiesener

    منشور في 2014
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  12. 12
    <i>NPHS2</i>Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum

    <i>NPHS2</i>Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum حسب Karim Bouchireb, Olivia Boyer, Olivier Gribouval, Fabien Névo, Evelyne Huynh-Cong, Vincent Morinière, Raphaëlle Campait, Elisabet Ars, Damien Brackman, Jacques Dantal, Philippe Eckart, Maddalena Gigante, Beata S. Lipska‐Ziętkiewicz, A. Liutkus, André Mégarbané, Nabil Mohsin, Fatih Özaltın, Moin A. Saleem, Franz Schaefer, Kenza Soulami, Roser Torrá, Nicolas Garcelon, Géraldine Mollet, Karin Dahan, Corinne Antignac

    منشور في 2013
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    Revisão
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  13. 13
    Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

    Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract حسب Laurence Heidet, Vincent Morinière, C. Henry, Lara De Tomasi, Madeline Louise Reilly, Camille Humbert, Olivier Alibeu, Cécile Fourrage, Christine Bôle‐Feysot, Patrick Nitschké, Frédéric Torès, Marc Bras, Marc Jeanpierre, Christine Piétrement, Dominique Gaillard, Marie Gonzalès, Robert Novo, Élise Schaefer, J. Roume, Jéléna Martinovic, Valérie Malan, Rémi Salomon, Sophie Saunier, Corinne Antignac, Marc Jeanpierre

    منشور في 2017
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  14. 14
    Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

    Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease حسب Marie‐Pierre Audrézet, Christine Corbiere, Saïd Lebbah, Vincent Morinière, Françoise Broux, Férielle Louillet, Michel Fischbach, Ariane Zaloszyc, Sylvie Cloarec, Élodie Merieau, Véronique Baudouin, Georges Deschênes, G. Roussey, Sandrine Maestri, Chiara Visconti, Olivia Boyer, Carine Abel, Annie Lahoche, Hanitra Randrianaivo, Lucie Bessenay, Djalila Mekahli, Inès Ouertani, Stéphane Decramer, Amélie Ryckenwaert, Émilie Cornec-Le Gall, Rémi Salomon, Claude Férec, Laurence Heidet

    منشور في 2015
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  15. 15
    Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

    Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function حسب Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li, Laure Villoing-Gaudé, Marie-Josèphe Tête, Alexandra Cambier, Julien Hogan, Véronique Baudouin, Saoussen Krid, A Bensman, Florie Lammens, Férielle Louillet, Bruno Ranchin, Cécile Vigneau, I. Bouteau, Corinne Isnard Bagnis, Christoph J. Mache, Tobias Schäfer, Lars Pape, Markus Gödel, Tobias B. Huber, Marcus R. Benz, Günter Klaus, Matthias Hansen, Kay Latta, Olivier Gribouval, Vincent Morinière, Carole Tournant, Maik Grohmann, Elisa Kuhn, Timo Wagner, Christine Bôle‐Feysot, Fabienne Jabot‐Hanin, Patrick Nitschké, Tarunveer S. Ahluwalia, Anna Köttgen, Christian Brix Folsted Andersen, Carsten Bergmann, Corinne Antignac, Matias Simons

    منشور في 2019
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  16. 16
    Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

    Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database حسب Matthew Bower, Rémi Salomon, Judith Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe Birk Jensen, Pierre Cochat, Stéphane Decramer, Joanne Dixon, Régen Drouin, Marni J. Falk, Holly Feret, Robert Gise, Alasdair G. W. Hunter, Kisha Johnson, Rajiv Kumar, Marie Pierre Lavocat, Laura Martin, Vincent Morinière, David Mowat, Luisa Murer, Hiep T. Nguyen, Gabriela Peretz‐Amit, Eric A. Pierce, Emily Place, Nancy Rodig, Ann E. Salerno, Sujatha Sastry, Tadashi Sato, John A. Sayer, Gerard C. P. Schaafsma, Lawrence R. Shoemaker, David W. Stockton, Wen‐Hann Tan, Romano Tenconi, Philippe Vanhille, Abhay Vats, Xinjing Wang, Berta Warman, Richard G. Weleber, Susan M. White, Carolyn Wilson-Brackett, Dina J. Zand, Michael R. Eccles, Lisa A. Schimmenti, Laurence Heidet

    منشور في 2011
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  17. 17
    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies حسب Friederike Petzold, Katy Billot, Xiaoyi Chen, C. Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug, Marc Jeanpierre, Kálmán Tory, Olivia Boyer, Anita Burgun, Aude Servais, Rémi Salomon, Alexandre Benmerah, Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Mohamad Zaidan, Sophie Saunier, Tania Attié‐Bitach, Valerie Comier-Daire, Jean‐Michel Rozet, Yaacov Frishberg, Brigitte Llanas, M. Broyer, Nabil Mohsin, Marie‐Alice Macher, Nicole Philip, Véronique Baudouin, D. Brackman, Chantal Loirat, Marina Charbit, Maud Dehennault, C. Guyot, Pierre Bataille, Mariet Elting, Georges Deschênes, Andrea Gropman, Geneviève Guest, Marie‐France Gagnadoux, Philippe Nicoud, Pierre Cochat, Bruno Ranchin, A Bensman, Anne‐Marie Guerrot, Bertrand Knebelmann, İlmay Bilge, Bruno Daniele, Stéphane Burtey, Caroline Rousset Rouvière, Valérie Caudwell, Denis Morin, Hélène Dollfus, Anne Maisin, Christian Hamel, Éric Bieth, Sophie Gié, Judith Goodship, G. Roussey, Hermine La Selve, Hubert Nivet, Lucie Bessenay, Mathilde Caillez, Jean Bernard Palcoux, Stéphane L. Benoit, Philippe Dubot, Marc Fila, Fabienne Giuliano, Daouya Iftene, M. Kessler, Thérèsa Kwon, A. Lahoche, Audrey Laurent, Anne-Laure Leclerc, David V. Milford, Thomas J. Neuhaus, Sylvie Odent, Philippe Eckart, Dominique Chauveau, Patrick Niaudet, Horacio A. Repetto, Sophie Taque, Alexandra Bruel, Alexandra Noel-Botte, Emma Allain Launay, Lisa Allard, Dany Anlicheau, Anne-Laure Adra, Arnaud Garnier, Arvind Nagra, Remy Baatard, Justine Bacchetta, Banu Sadıkoğlu, Christine Barnérias, Anne Barthélémy, Lina Basel, Nader Bassilios

    منشور في 2023
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    Artigo
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