检索结果 - Dominique Bonneau

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  1. 1
    Mutations of the human PTEN gene

    Mutations of the human PTEN gene 由 Dominique Bonneau, Michel Longy

    出版 2000
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  2. 2
    A snapshot of some pLI score pitfalls

    A snapshot of some pLI score pitfalls 由 Alban Ziegler, Estelle Colin, David Goudenège, Dominique Bonneau

    出版 2019
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  3. 3
    Decrease in serum leptin after prolonged physical activity in men

    Decrease in serum leptin after prolonged physical activity in men 由 Danielle Gomez-Mérino, Mounir Chennaoui, Catherine Drogou, Dominique Bonneau, Charles Yannick Guézennec

    出版 2002
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  4. 4
    Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.

    Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. 由 Dominique Bonneau, Frank R. Raymond, C Kremer, J M Klossek, Josseline Kaplan, F Patte

    出版 1993
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  5. 5
    A New Case of <i>PCSK1</i> Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review

    A New Case of <i>PCSK1</i> Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review 由 Lucie Pépin, Estelle Colin, Marine Tessarech, Stéphanie Rouleau, Natacha Bouhours‐Nouet, Dominique Bonneau, R. Coutant

    出版 2018
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  6. 6
    Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

    Bilateral cataract and high serum ferritin: a new dominant genetic disorder? 由 Dominique Bonneau, I. Winter-Fuseau, Marie-Noelle Loiseau, Patrizia Amati, Michel Berthier, Denis Oriot, C. Beaumont

    出版 1995
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  7. 7
    Dominant optic atrophy

    Dominant optic atrophy 由 Guy Lenaers, Christian P. Hamel, Cécile Delettre, Patrizia Amati‐Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Miléa

    出版 2012
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  8. 8
    Reliable Protocol for Shear Wave Elastography of Lower Limb Muscles at Rest and During Passive Stretching

    Reliable Protocol for Shear Wave Elastography of Lower Limb Muscles at Rest and During Passive Stretching 由 Guillaume Dubois, Walid Kheireddine, Claudio Vergari, Dominique Bonneau, Patricia Thoreux, Philippe Rouch, Mickaël Tanter, Jean‐Luc Gennisson, Wafa Skalli

    出版 2015
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  9. 9
    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 由 Pauline Krug, Vincent Morinière, Sandrine Marlin, Valérie Koubi, Heinz Gabriel, Estelle Colin, Dominique Bonneau, Rémi Salomon, Corinne Antignac, Laurence Heidet

    出版 2010
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  10. 10
    A Gene Predisposing to Familial Thyroid Tumors with Cell Oxyphilia Maps to Chromosome 19p13.2

    A Gene Predisposing to Familial Thyroid Tumors with Cell Oxyphilia Maps to Chromosome 19p13.2 由 Federico Canzian, Patrizia Amati, H. Rubén Harach, Jean‐Louis Kraimps, Fabienne Lesueur, J Barbier, P. Levillain, Giovanni Romeo, Dominique Bonneau

    出版 1998
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  11. 11
    Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

    Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing 由 Céline Bris, David Goudenège, Valérie Desquiret‐Dumas, Majida Charif, Estelle Colin, Dominique Bonneau, Patrizia Amati‐Bonneau, Guy Lenaers, Pascal Reynier, Vincent Procaccio

    出版 2018
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  12. 12
    Improved Locus-Specific Database for<i>OPA1</i>Mutations Allows Inclusion of Advanced Clinical Data

    Improved Locus-Specific Database for<i>OPA1</i>Mutations Allows Inclusion of Advanced Clinical Data 由 Marc Ferré, Angélique Caignard, Dan Miléa, Stéphanie Leruez, Julien Cassereau, Arnaud Chevrollier, Patrizia Amati‐Bonneau, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Pascal Reynier

    出版 2014
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  13. 13
    Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

    Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. 由 Michel Longy, Vincent Coulon, B. Duboué, A. David, M Larrègue, Charis Eng, Patrizia Amati, J.L. Kraimps, Armand Bottani, Didier Lacombe, Dominique Bonneau

    出版 1998
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  14. 14
    A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic Preconditioning

    A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic Preconditioning 由 Judith Kouassi Nzoughet, Cinzia Bocca, Gilles Simard, Delphine Prunier‐Mirebeau, Juan Manuel Chao de la Barca, Dominique Bonneau, Vincent Procaccio, Fabrice Prunier, Guy Lenaers, Pascal Reynier

    出版 2016
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  15. 15
    Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

    Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots 由 David Baux, Catherine Blanchet, Christian Hamel, Isabelle Meunier, Lise Larrieu, Valérie Faugère, Christel Vaché, Pierangela Castorina, Bernard Puech, Dominique Bonneau, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux

    出版 2014
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  16. 16
    Autophagy controls the pathogenicity of <i><scp>OPA</scp>1</i> mutations in dominant optic atrophy

    Autophagy controls the pathogenicity of <i><scp>OPA</scp>1</i> mutations in dominant optic atrophy 由 Mariame Selma Kane, Jennifer Alban, Valérie Desquiret‐Dumas, Naïg Guéguen, Layal Ishak, Marc Ferré, Patrizia Amati‐Bonneau, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Pascal Reynier, Arnaud Chevrollier

    出版 2017
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  17. 17
    Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis

    Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis 由 Aurélien Olichon, Thomas Landes, Laetitia Pelloquin, Laurent J. Emorine, Valérie Mils, Agnès Guichet, Cécile Delettre, Christian Hamel, Patrizia Amati‐Bonneau, Dominique Bonneau, Pascal Reynier, Guy Lenaers, Pascale Belenguer

    出版 2006
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  18. 18
    Resveratrol Induces a Mitochondrial Complex I-dependent Increase in NADH Oxidation Responsible for Sirtuin Activation in Liver Cells

    Resveratrol Induces a Mitochondrial Complex I-dependent Increase in NADH Oxidation Responsible for Sirtuin Activation in Liver Cells 由 Valérie Desquiret‐Dumas, Naïg Guéguen, Géraldine Leman, Stéphanie Baron, Valérie Nivet‐Antoine, Stéphanie Chupin, Arnaud Chevrollier, Emilie Vessières, Audrey Ayer, Marc Ferré, Dominique Bonneau, Daniel Henrion, Pascal Reynier, Vincent Procaccio

    出版 2013
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  19. 19
    Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration

    Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration 由 Claire Angebault, Naïg Guéguen, Valérie Desquiret‐Dumas, Arnaud Chevrollier, Virginie Guillet, Christophe Verny, Julien Cassereau, Marc Ferré, Dan Miléa, Patrizia Amati‐Bonneau, Dominique Bonneau, Vincent Procaccio, Pascal Reynier, Dominique Loiseau

    出版 2011
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  20. 20
    The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model

    The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model 由 Samuel Frey, Guillaume Geffroy, Valérie Desquiret‐Dumas, Naïg Guéguen, Céline Bris, Sophie Belal, Patrizia Amati‐Bonneau, Arnaud Chevrollier, Magalie Barth, Daniel Henrion, Guy Lenaers, Dominique Bonneau, Pascal Reynier, Vincent Procaccio

    出版 2016
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