Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Gérard Maruani"'
Autor:
François Brazier, Marie Courbebaisse, Amandine David, David Bergerat, Christine Leroy, Marta Lindner, Gérard Maruani, Camille Saint Jacques, Emmanuel Letavernier, Marguerite Hureaux, Rosa Vargas-Poussou, Dominique Prié
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract Biallelic pathogenic variants in the SLC34A3 gene, encoding for the NPT2c cotransporter, cause Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). However, the associated phenotype is highly variable. In addition, mice deleted fo
Externí odkaz:
https://doaj.org/article/af4dc798a5ed4466a9542dce133bb31f
Autor:
Jean-Philippe Bertocchio, Natalie Grosset, Lionel Groussin, Peter Kamenický, Fabrice Larceneux, Anne Lienhardt-Roussie, Agnès Linglart, Gérard Maruani, Eric Mirallie, François Pattou, Riyad N H Seervai, Coralie Sido, Caroline Silve, Aurélie Vilfaillot, Antoine Tabarin, Marie-Christine Vantyghem, Pascal Houillier
Publikováno v:
Endocrine Connections, Vol 11, Iss 1, Pp 1-11 (2022)
Context: Recent guidelines have provided recommendations for the care of patients with chronic hypoparathyroidism. Very little is known about actual physicians’ practices or their adherence to such guidelines. Objective: To describe the physicians
Externí odkaz:
https://doaj.org/article/bf00ba6ee5f64061ab750abbff025138
Autor:
Anne Morice, Aline Joly, Manon Ricquebourg, Gérard Maruani, Emmanuel Durand, Louise Galmiche, Jeanne Amiel, Yoann Vial, Hélène Cavé, Kahina Belhous, Marie Piketty, Martine Cohen-Solal, Ariane Berdal, Corinne Collet, Arnaud Picard, Amelie E. Coudert, Natacha Kadlub
Publikováno v:
BMC Musculoskeletal Disorders, Vol 21, Iss 1, Pp 1-8 (2020)
Abstract Background Cherubism is a rare autosomal dominant genetic condition caused by mutations in the SH3BP2 gene. This disease is characterized by osteolysis of the jaws, with the bone replaced by soft tissue rich in fibroblasts and multinuclear g
Externí odkaz:
https://doaj.org/article/d87f5d340f664392b56fa36f18aaa139
Autor:
Anne Morice, Manon Ricquebourg, Aline Joly, Gérard Maruani, Emmanuel Durand, Louise Galmiche, Jeanne Amiel, Yoan Vial, Kahina Belhous, Marie Piketty, Martine Cohen-Solal, Ariane Berdal, Corinne Collet, Arnaud Picard, Natacha Kadlub, Amélie Coudert
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100610- (2020)
Externí odkaz:
https://doaj.org/article/a71cabf1518849cda39b6bdb994c7efc
Autor:
Valentina Forni Ogna, Anne Blanchard, Rosa Vargas-Poussou, Adam Ogna, Stéphanie Baron, Jean-Philippe Bertocchio, Caroline Prot-Bertoye, Jérôme Nevoux, Julie Dubourg, Gérard Maruani, Margarida Mendes, Alejandro Garcia-Castaño, Cyrielle Treard, Nelly Lepottier, Pascal Houillier, Marie Courbebaisse
Publikováno v:
PLoS ONE, Vol 12, Iss 5, p e0177329 (2017)
BACKGROUND AND OBJECTIVES:Hypocitraturia has been associated with metabolic acidosis and mineral disorders. The aim of this study was to investigate the occurrence of urinary acidification defects underlying hypocitraturia. MATERIALS AND METHODS:This
Externí odkaz:
https://doaj.org/article/c07388da92ac41fdb4947c4ddf2f7a24
Autor:
Vrtovsnik, François, Daugas, Eric, Flamant, Martin, Vidal-Petiot, Emmanuelle, Jacquot, Christian, Karras, Alexandre, Roueff, Stéphane, Thervet, Eric, Houillier, Pascal, Courbebaisse, Marie, Eladari et Gérard Maruani, Dominique, Urena-Torres, Pablo, Boffa, Jean-Jacques, Ronco, Pierre, Fessi, H., Rondeau, Eric, Letavernier, Emmanuel, Tabibzadeh, Nahid, Haymann, Jean-Philippe, Bienaimé, Frank, Muorah, Mordi, Metzger, Marie, Broeuilh, Melanie, Houiller, Pascal, Vonderscher, Jacky, Mizrahi, Jacques, Friedlander, Gérard, Stengel, Bénédicte, Terzi, Fabiola
Publikováno v:
In eBioMedicine July 2023 93
Autor:
François Brazier, Marie Courbebaisse, Amandine David, David Bergerat, Christine Leroy, Marta Lindner, Gérard Maruani, Camille Saint Jacques, Emmanuel Letavernier, Marguerite Hureaux, Rosa Vargas-Poussou, Dominique Prié
Publikováno v:
Scientific reports. 13(1)
Biallelic pathogenic variants in the SLC34A3 gene, encoding for the NPT2c cotransporter, cause Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). However, the associated phenotype is highly variable. In addition, mice deleted for Slc34a3
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Autor:
Pablo Bartolucci, Frédéric Galactéros, Gérard Maruani, Thomas Stehlé, Nicolas Cornière, Jean-Philippe Bertocchio, Hamza Ayari, Vincent Audard, Anoosha Habibi, Stéphanie Baron, Jugurtha Berkenou, Pascal Houillier, Maud Cazenave, Marie Courbebaisse, Gérard Friedlander, Caroline Prot-Bertoye
Publikováno v:
Clin J Am Soc Nephrol
BACKGROUND AND OBJECTIVES: Metabolic acidosis is a frequent manifestation of sickle cell disease but the mechanisms and determinants of this disorder are unknown. Our aim was to characterize urinary acidification capacity in adults with sickle cell d
Autor:
Saverio Fabbri, Pierre Boutouyrie, Hakim Khettab, Gérard Maruani, Pascal Houillier, Rosa Maria Bruno
Publikováno v:
Journal of Hypertension. 40:e66