Αποτελέσματα αναζήτησης - Vincent Marion
- Εμφανίζονται 1 - 17 Αποτελέσματα από 17
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Pharmacological Modulation of the Retinal Unfolded Protein Response in Bardet-Biedl Syndrome Reduces Apoptosis and Preserves Light Detection Ability από Anaïs Mockel, Cathy Obringer, Theodorus B. M. Hakvoort, Mathias W. Seeliger, Wouter H. Lamers, Corinne Stoetzel, Hélène Dollfus, Vincent Marion
Έκδοση 2012Artigo -
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Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation από Vincent Marion, Corinne Stoetzel, Dominique Schlicht, Nadia Messaddeq, Michael Koch, Elisabeth Flori, Jean Marc Danse, Jean‐Louis Mandel, Hélène Dollfus
Έκδοση 2009Artigo -
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Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption από Vincent Marion, Dominique Schlicht, Anaïs Mockel, Sophie Caillard, O. Imhoff, Corinne Stoetzel, Paul van Dijk, Christian Brandt, Bruno Moulin, Hélène Dollfus
Έκδοση 2011Artigo -
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Fibrinogen A Thr312Ala polymorphism is associated with chronic thromboembolic pulmonary hypertension από J. Suntharalingam, Kimberley Goldsmith, Vincent Marion, Lü Long, Carmen Treacy, Frank Dudbridge, Mark Toshner, Joanna Pepke‐Żaba, Jeroen Eikenboom, Nicholas W. Morrell
Έκδοση 2007Artigo -
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Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects από 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
Έκδοση 2011Artigo -
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Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit<i>BBIP1</i>(<i>BBS18</i>) από 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
Έκδοση 2013Artigo -
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BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response από 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
Έκδοση 2012Artigo -
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Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy από 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
Έκδοση 2015Artigo -
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Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age από Judith Eschbach, Jérôme Sinniger, Jamal Bouitbir, Anissa Fergani, Anna-Isabel Schlagowski, Joffrey Zoll, Bernard Gény, Frédérique René, Yves Larmet, Vincent Marion, Robert H. Baloh, Matthew B. Harms, Michael E. Shy, Nadia Messadeq, Patrick Weydt, Jean‐Philippe Loeffler, Albert C. Ludolph, Luc Dupuis
Έκδοση 2013Artigo -
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Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD από Jeroen Eikenboom, Vincent Marion, Hein Putter, Anne Goodeve, Francesco Rodeghiero, Giancarlo Castaman, A B Federici, Javier Batlle, Dominique Meyer, Claudine Mazurier, Jenny Goudemand, Reinhard Schneppenheim, Ulrich Budde, J. Ingerslev, Z Vorlová, David Habart, Lars Holmberg, Stefan Lethagen, John Pasi, F. G. H. Hill, I. R. Peake
Έκδοση 2006Artigo -
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Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly από 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
Έκδοση 2010Artigo -
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Consensus clinical management guidelines for Alström syndrome από Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay‐Aygun, Francesca Dassie, Vincent Marion, M. Valenti, Kerry Leeson-Beevers, A Chivers, Richard P. Steeds, Timothy Barrett, Tarekegn Geberhiwot
Έκδοση 2020Revisão -
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Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease από 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
Έκδοση 2010Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Genetics
Gene
Medicine
Phenotype
Bardet–Biedl syndrome
Internal medicine
Cell biology
Ciliopathies
Ciliopathy
Allele
Cilium
Mutation
Pediatrics
Adipocyte
Adipogenesis
Adipose tissue
Ciliogenesis
Disease
Endocrinology
Exome sequencing
Genetic heterogeneity
Immunology
Microtubule
Missense mutation
Platelet
Aerodynamics
Aerospace engineering
Athletes
Atrophy