檢索結果 - Hélène Dollfus

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  1. 1
    AnnotSV: an integrated tool for structural variations annotation

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

    出版 2018
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  2. 2
    Hyperphagia in Bardet–Biedl syndrome: Pathophysiology, burden, and management

    Hyperphagia in Bardet–Biedl syndrome: Pathophysiology, burden, and management 由 Philip L. Beales, Metin Cetiner, Andrea M. Haqq, Jennifer Miller, Ashley H. Shoemaker, Diana Valverde, Miriam Zacchia, Hélène Dollfus

    出版 2025
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    Revisão
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  3. 3
    Neuroimaging In Cockayne Syndrome

    Neuroimaging In Cockayne Syndrome 由 M. Koob, Vincent Laugel, M. Durand, Hélène Fothergill, C Dalloz, Florence Sauvanaud, Hélène Dollfus, Izzie Jacques Namer, Jean‐Louis Dietemann

    出版 2010
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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 由 Anaïs Mockel, Cathy Obringer, Theodorus B. M. Hakvoort, Mathias W. Seeliger, Wouter H. Lamers, Corinne Stoetzel, Hélène Dollfus, Vincent Marion

    出版 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 由 Vincent Marion, Corinne Stoetzel, Dominique Schlicht, Nadia Messaddeq, Michael Koch, Elisabeth Flori, Jean Marc Danse, Jean‐Louis Mandel, Hélène Dollfus

    出版 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 由 Vincent Marion, Dominique Schlicht, Anaïs Mockel, Sophie Caillard, O. Imhoff, Corinne Stoetzel, Paul van Dijk, Christian Brandt, Bruno Moulin, Hélène Dollfus

    出版 2011
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  7. 7
    Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling

    Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling 由 Yannis Nevers, Megana Prasad, Laetitia Poidevin, Kirsley Chennen, Alexis Allot, Arnaud Kress, Raymond Ripp, Julie Thompson, Hélène Dollfus, Olivier Poch, Odile Lecompte

    出版 2017
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  8. 8
    European Reference Networks: challenges and opportunities

    European Reference Networks: challenges and opportunities 由 Birutė Tumienė, Holm Graeßner, Irene M.J. Mathijssen, Alberto M. Pereira, Franz Schaefer, Maurizio Scarpa, Jean‐Yves Blay, Hélène Dollfus, Nicoline Hoogerbrugge

    出版 2021
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  9. 9
    AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis

    AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis 由 Véronique Geoffroy, Thomas Guignard, Arnaud Kress, Jean‐Baptiste Gaillard, Tor Solli-Nowlan, Audrey Schalk, Vincent Gâtinois, Hélène Dollfus, Sophie Scheidecker, Jean Muller

    出版 2021
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  10. 10
    Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

    Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis 由 Isabelle Perrault, Sylvain Hanein, S. Gerber, Fabienne Barbet, Dominique Ducroq, Hélène Dollfus, Christian Hamel, Jean‐Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean‐Michel Rozet

    出版 2004
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  11. 11
    Bardet-Biedl Syndrome

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

    出版 2010
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  12. 12
    ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

    ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome 由 Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, Laurence Faivre, André Mégarbané, Abdulrahman Alswaid, Hélène Dollfus, Yves Alembik, Arnold Münnich, Laurence Legeai‐Mallet, Valérie Cormier‐Daire

    出版 2004
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  13. 13
    Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

    Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype 由 Isabelle Perrault, Nathalie Delphin, Sylvain Hanein, S. Gerber, Jean‐Louis Dufier, Olivier Roche, Sabine Defoort‐Dhellemmes, Hélène Dollfus, Elisa Fazzi, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet

    出版 2007
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  14. 14
    Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With Bardet-Biedl Syndrome

    Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With Bardet-Biedl Syndrome 由 Andrea M. Haqq, Christine Poitou, Wendy K. Chung, Elizabeth Forsythe, Rushika Conroy, Hélène Dollfus, Sonali Malhotra, Nicolas Touchot, Uzoma Okorie, Philip L. Beales, Karine Clément, Jesús Argente

    出版 2025
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  15. 15
    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 由 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

    出版 2011
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  16. 16
    Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

    Osteosclerotic bone dysplasia in siblings with a Fam20C mutation 由 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

    出版 2010
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  17. 17
    Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

    Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia 由 Tanja Grau, Nikolai O. Artemyev, Thomas Rosenberg, Hélène Dollfus, Olav H. Haugen, Emin Cumhur Şener, Bernhard Jurklies, Sten Andréasson, Christoph Kernstock, Michael Larsen, Eberhart Zrenner, Bernd Wissinger, Susanne Kohl

    出版 2010
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  18. 18
    Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period

    Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, place... 由 Andrea M. Haqq, Wendy K. Chung, Hélène Dollfus, Robert Haws, Gabriel Ángel Martos‐Moreno, Christine Poitou, Jack A. Yanovski, Robert S. Mittleman, Guojun Yuan, Elizabeth Forsythe, Karine Clément, Jesús Argente

    出版 2022
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  19. 19
    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 由 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

    出版 2016
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  20. 20
    Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results

    Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results 由 Elizabeth Forsythe, Robert Haws, Jesús Argente, Philip L. Beales, Gabriel Ángel Martos‐Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément, Andrea M. Haqq

    出版 2023
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