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Page 1
Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R. Seys E, et al. Among authors: simian c. J Am Soc Nephrol. 2017 Aug;28(8):2540-2552. doi: 10.1681/ASN.2016101057. Epub 2017 Apr 5. J Am Soc Nephrol. 2017. PMID: 28381550 Free PMC article.
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, Travers C, Simian C, Treard C, Baudouin V, Beltran S, Broux F, Camard O, Cloarec S, Cormier C, Debussche X, Dubosclard E, Eid C, Haymann JP, Kiando SR, Kuhn JM, Lefort G, Linglart A, Lucas-Pouliquen B, Macher MA, Maruani G, Ouzounian S, Polak M, Requeda E, Robier D, Silve C, Souberbielle JC, Tack I, Vezzosi D, Jeunemaitre X, Houillier P. Vargas-Poussou R, et al. Among authors: simian c. J Clin Endocrinol Metab. 2016 May;101(5):2185-95. doi: 10.1210/jc.2015-3442. Epub 2016 Mar 10. J Clin Endocrinol Metab. 2016. PMID: 26963950
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.
Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O, Currás-Freixes M, Franco-Vidal V, Guillaud-Bataille M, Simian C, Morin A, Letón R, Gómez-Graña A, Pollard PJ, Rustin P, Robledo M, Favier J, Gimenez-Roqueplo AP. Castro-Vega LJ, et al. Among authors: simian c. Hum Mol Genet. 2014 May 1;23(9):2440-6. doi: 10.1093/hmg/ddt639. Epub 2013 Dec 13. Hum Mol Genet. 2014. PMID: 24334767
Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.
Buffet A, Smati S, Mansuy L, Ménara M, Lebras M, Heymann MF, Simian C, Favier J, Murat A, Cariou B, Gimenez-Roqueplo AP. Buffet A, et al. Among authors: simian c. J Clin Endocrinol Metab. 2014 Feb;99(2):E369-73. doi: 10.1210/jc.2013-2600. Epub 2013 Nov 25. J Clin Endocrinol Metab. 2014. PMID: 24276449
A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma.
Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N, Boussion M, Travers C, Simian C, Burnichon N, Abermil N, Favier J, Jeunemaitre X, Gimenez-Roqueplo AP. Buffet A, et al. Among authors: simian c. Horm Metab Res. 2012 May;44(5):359-66. doi: 10.1055/s-0032-1304594. Epub 2012 Apr 19. Horm Metab Res. 2012. PMID: 22517557 Review.
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.
Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, Bouatia-Naji N, Pylypenko O, Beaurain G, Bonnefond A, Sand O, Simian C, Vidal-Petiot E, Soukaseum C, Mandet C, Broux F, Chabre O, Delahousse M, Esnault V, Fiquet B, Houillier P, Bagnis CI, Koenig J, Konrad M, Landais P, Mourani C, Niaudet P, Probst V, Thauvin C, Unwin RJ, Soroka SD, Ehret G, Ossowski S, Caulfield M; International Consortium for Blood Pressure (ICBP); Bruneval P, Estivill X, Froguel P, Hadchouel J, Schott JJ, Jeunemaitre X. Louis-Dit-Picard H, et al. Among authors: simian c. Nat Genet. 2012 Mar 11;44(4):456-60, S1-3. doi: 10.1038/ng.2218. Nat Genet. 2012. PMID: 22406640
The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.
Castro-Vega LJ, Kiando SR, Burnichon N, Buffet A, Amar L, Simian C, Berdelou A, Galan P, Schlumberger M, Bouatia-Naji N, Favier J, Bressac-de Paillerets B, Gimenez-Roqueplo AP. Castro-Vega LJ, et al. Among authors: simian c. J Clin Endocrinol Metab. 2016 Dec;101(12):4764-4768. doi: 10.1210/jc.2016-2103. Epub 2016 Sep 28. J Clin Endocrinol Metab. 2016. PMID: 27680874
The functional c.-2G>C variant of the mineralocorticoid receptor modulates blood pressure, renin, and aldosterone levels.
van Leeuwen N, Caprio M, Blaya C, Fumeron F, Sartorato P, Ronconi V, Giacchetti G, Mantero F, Fernandes-Rosa FL, Simian C, Peyrard S, Zitman FG, Penninx BW, de Kloet ER, Azizi M, Jeunemaitre X, Derijk RH, Zennaro MC. van Leeuwen N, et al. Among authors: simian c. Hypertension. 2010 Nov;56(5):995-1002. doi: 10.1161/HYPERTENSIONAHA.110.155630. Epub 2010 Sep 20. Hypertension. 2010. PMID: 20855654
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.
Nadour Z, Simian C, Laprévote O, Loriot MA, Larabi IA, Pallet N. Nadour Z, et al. Among authors: simian c. Clin Chim Acta. 2022 Sep 1;534:115-127. doi: 10.1016/j.cca.2022.07.009. Epub 2022 Jul 20. Clin Chim Acta. 2022. PMID: 35870540
16 results