Publications by authors named "Christophe Simian"

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Validation of a liquid chromatography coupled to tandem mass spectrometry method for simultaneous quantification of tryptophan and 10 key metabolites of the kynurenine pathway in plasma and urine: Application to a cohort of acute kidney injury patients.
Zahia Nadour, Christophe Simian, Olivier Laprévote, Marie-Anne Loriot, Islam Amine Larabi

Clin Chim Acta· September 2022

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Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.
Anne Legrand, Magali Devriese, Sophie Dupuis-Girod, Christophe Simian, Annabelle Venisse

Genet Med· July 2019

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Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
Elsa Seys, Olga Andrini, Mathilde Keck, Lamisse Mansour-Hendili, Pierre-Yves Courand, Christophe Simian

J Am Soc Nephrol· August 2017

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The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.
Luis Jaime Castro-Vega, Soto Romuald Kiando, Nelly Burnichon, Alexandre Buffet, Laurence Amar, Christophe Simian

J Clin Endocrinol Metab· December 2016

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Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
Rosa Vargas-Poussou, Lamisse Mansour-Hendili, Stéphanie Baron, Jean-Philippe Bertocchio, Caroline Travers, Christophe Simian

J Clin Endocrinol Metab· May 2016

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Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.
Luis Jaime Castro-Vega, Alexandre Buffet, Aguirre A De Cubas, Alberto Cascón, Mélanie Menara, Christophe Simian

Hum Mol Genet· May 2014

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Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.
Alexandre Buffet, Sarra Smati, Ludovic Mansuy, Mélanie Ménara, Maëlle Lebras, Christophe Simian

J Clin Endocrinol Metab· February 2014

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KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.
Hélène Louis-Dit-Picard, Julien Barc, Daniel Trujillano, Stéphanie Miserey-Lenkei, Nabila Bouatia-Naji, Christophe Simian

Nat Genet· March 2012

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The functional c.-2G>C variant of the mineralocorticoid receptor modulates blood pressure, renin, and aldosterone levels.
Nienke van Leeuwen, Massimiliano Caprio, Carolina Blaya, Frédéric Fumeron, Paola Sartorato, Christophe Simian

Hypertension· November 2010

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Adenine, a hairpin ribozyme cofactor--high-pressure and competition studies.
Myriam Ztouti, Hussein Kaddour, Francisco Miralles, Christophe Simian, Jacques Vergne

FEBS J· May 2009

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