Хайлтын үр дүнгүүд - Laurent Gouya

Үр дүнг сайжруулах
  1. 1
    Porphyria and kidney diseases

    Porphyria and kidney diseases -н Nicolas Pallet, Alexandre Karras, Éric Thervet, Laurent Gouya, Zoubida Karim, Hervé Puy

    Хэвлэсэн 2017
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    Artigo
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  2. 2
    Management of suspected monogenic lung fibrosis in a specialised centre

    Management of suspected monogenic lung fibrosis in a specialised centre -н Raphaël Borie, Caroline Kannengiesser, Flore Sicre de Fontbrune, Laurent Gouya, Nadia Nathan, Bruno Crestani

    Хэвлэсэн 2017
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    Revisão
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  3. 3
    Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword

    Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword -н Katell Peoc’h, Hana Manceau, Zoubida Karim, Staffan Wåhlin, Laurent Gouya, Hervé Puy, Jean‐Charles Deybach

    Хэвлэсэн 2018
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    Artigo
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  4. 4
    Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria

    Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria -н Hervé Puy, Jean‐Charles Deybach, J. Lamoril, A.M. Robréau, V. Da Silva, Laurent Gouya, Bernard Grandchamp, Y Nordmann

    Хэвлэсэн 1997
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    Artigo
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  5. 5
    Iron refractory iron deficiency anemia

    Iron refractory iron deficiency anemia -н Luigia De Falco, Mayka Sánchez, Laura Silvestri, Caroline Kannengiesser, Martina U. Muckenthaler, Achille Iolascon, Laurent Gouya, Clara Camaschella, C. Beaumont

    Хэвлэсэн 2013
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    Revisão
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  6. 6
    The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

    The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele -н Mélodie Aubart, Marie‐Sylvie Gross, Nadine Hanna, M. T. Zabot, M. Sznajder, Delphine Détaint, Laurent Gouya, Guillaume Jondeau, Cathérine Boileau, Chantal Stheneur

    Хэвлэсэн 2015
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    Artigo
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  7. 7
    Hepcidin regulates intrarenal iron handling at the distal nephron

    Hepcidin regulates intrarenal iron handling at the distal nephron -н Boualem Moulouel, Dounia Houamel, Constance Delaby, Dimitri Tchernitchko, Sophie Vaulont, Philippe Lettéron, Olivier Thibaudeau, Hervé Puy, Laurent Gouya, Carole Beaumont, Zoubida Karim

    Хэвлэсэн 2013
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    Artigo
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  8. 8
    Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria

    Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria -н Urszula B. Rüfenacht, Laurent Gouya, X. Schneider‐Yin, Hervé Puy, Beat W. Schäfer, R Aquaron, Y Nordmann, Elisabeth I. Minder, Jean‐Charles Deybach

    Хэвлэсэн 1998
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    Artigo
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  9. 9
    Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria

    Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria -н Laurent Gouya, Caroline Schmitt, Anne-Marie Robréau, Frédéric Austerlitz, Vasco Da Silva, Patrick Brun, Sylvie Simonin, Saı̈d Lyoumi, Bernard Grandchamp, Carole Beaumont, Hervé Puy, Jean‐Charles Deybach

    Хэвлэсэн 2005
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    Artigo
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  10. 10
    A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease

    A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease -н Dimitri Tchernitchko, Quentin Tavernier, J. Lamoril, Caroline Schmitt, Neila Talbi, Saı̈d Lyoumi, Anne-Marie Robréau, Zoubida Karim, Laurent Gouya, Éric Thervet, Alexandre Karras, Hervé Puy, Nicolas Pallet

    Хэвлэсэн 2016
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    Artigo
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  11. 11
    High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria

    High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria -н Nicolas Pallet, Iadh Mami, Caroline Schmitt, Zoubida Karim, Arnaud François, Marion Rabant, Dominique Nochy, Laurent Gouya, Jean‐Charles Deybach, Yichum Xu-Dubois, Éric Thervet, Hervé Puy, Alexandre Karras

    Хэвлэсэн 2015
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    Artigo
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  12. 12
    ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

    ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria -н Jordi To‐Figueras, Sarah Ducamp, Jerome Clayton, Célia Bádenas, Constance Delaby, Cécile Ged, Saı̈d Lyoumi, Laurent Gouya, Hubert de Verneuil, Carole Beaumont, Glória C. Ferreira, Jean‐Charles Deybach, Carmen Herrero, Hervé Puy

    Хэвлэсэн 2011
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    Artigo
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  13. 13
    Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome

    Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome -н Olivier Milleron, Florence Arnoult, G Delorme, Delphine Détaint, Quentin Pellenc, Richard Raffoul, Maria Tchitchinadze, Maud Langeois, C Guien, Christophe Béroud, Jacques Ropers, Nadine Hanna, Pauline Arnaud, Laurent Gouya, Cathérine Boileau, Guillaume Jondeau

    Хэвлэсэн 2020
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    Artigo
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  14. 14
    Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

    Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants -н Pauline Arnaud, Olivier Milleron, Nadine Hanna, Jacques Ropers, N Ould Ouali, Amel Affoune, Maud Langeois, Ludivine Eliahou, Florence Arnoult, P Renard, Marlène Michelon-Jouneaux, Marie Cotillon, Laurent Gouya, Cathérine Boileau, Guillaume Jondeau

    Хэвлэсэн 2021
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    Artigo
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  15. 15
    Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

    Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene -н Chantal Stheneur, Gwenaëlle Collod‐Béroud, Laurence Faivre, Jean François Buyck, Laurent Gouya, Jean‐Marie Le Parc, Bertrand Moura, Christine Muti, Bernard Grandchamp, G. Sultan, Mireille Claustres, Philippe Aegerter, Bertrand Chevallier, Guillaume Jondeau, Cathérine Boileau

    Хэвлэсэн 2009
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    Artigo
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  16. 16
    Hepcidin as a Major Component of Renal Antibacterial Defenses against Uropathogenic Escherichia coli

    Hepcidin as a Major Component of Renal Antibacterial Defenses against Uropathogenic Escherichia coli -н Dounia Houamel, Nicolas Ducrot, Thibaud Lefèbvre, Raêd Daher, Boualem Moulouel, Marie‐Agnès Sari, Philippe Lettéron, Saı̈d Lyoumi, Sarah Millot, Jérôme Tourret, Odile Bouvet, Sophie Vaulont, Alain Vandewalle, Erick Denamur, Hervé Puy, Carole Beaumont, Laurent Gouya, Zoubida Karim

    Хэвлэсэн 2015
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    Artigo
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  17. 17
    Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

    Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP) -н Sarah Ducamp, Xiaoye Schneider‐Yin, Felix de Rooij, Jerome Clayton, Erica J. Fratz‐Berilla, Alice Rudd, George Ostapowicz, George Varigos, Thibaud Lefèbvre, Jean‐Charles Deybach, Laurent Gouya, Paul J. Wilson, Glória C. Ferreira, Elisabeth I. Minder, Hervé Puy

    Хэвлэсэн 2012
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    Artigo
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  18. 18
    From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

    From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria -н Hugo Lenglet, Caroline Schmitt, Thomas Grange, Hana Manceau, Narjesse Karboul, Florian Bouchet-Crivat, Anne-Marie Robréau, Gaël Nicolas, J. Lamoril, Sylvie Simonin, Arienne Mirmiran, Zoubida Karim, Enrique Casalino, Jean‐Charles Deybach, Hervé Puy, Katell Peoc’h, Laurent Gouya

    Хэвлэсэн 2018
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    Artigo
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  19. 19
    Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study

    Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study -н P. Ventura, Herbert L. Bonkovsky, Laurent Gouya, Paula Aguilera, D. Montgomery Bissell, Penelope E. Stein, Manisha Balwani, Drs Anderson, Charles Parker, David J. Kuter, Susana Monroy, Jeeyoung Oh, Bruce Ritchie, John J. Ko, Zhaowei Hua, Marianne T. Sweetser, Eliane Sardh

    Хэвлэсэн 2021
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    Artigo
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  20. 20
    Givosiran in acute intermittent porphyria: A personalized medicine approach

    Givosiran in acute intermittent porphyria: A personalized medicine approach -н Antoine Poli, Caroline Schmitt, Boualem Moulouel, Arienne Mirmiran, Neila Talbi, Sophie Rivière, Diane Cerutti, Isabelle Bouchoule, Anthony Faivre, Vincent Grobost, Claire Douillard, F. Duchêne, Valeria Fiorentino, Thierry Dupré, Hana Manceau, Katell Peoc’h, Hervé Puy, Thibaud Lefèbvre, Laurent Gouya

    Хэвлэсэн 2022
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    Artigo
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