Publications

2018

Germline mutations in the mitochondrial 2-oxoglutarate/malate carrier SLC25A11 gene confer a predisposition to metastatic paragangliomas.

By Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouzé E, Lefebvre H, Guilhem I, Magalie H, Raingeard I, Padilla-Girola M, Tran T, Tchara L, Bertherat J, Amar L, Ottolenghi C, Burnichon N, Gimenez-Roqueplo AP, Favier J

in Cancer research, 2018-02-05; Vol. ( pmid : 29431636)


A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.

By Fernandes-Rosa FL, Daniil G, Orozco IJ, Göppner C, El Zein R, Jain V, Boulkroun S, Jeunemaitre X, Amar L, Lefebvre H, Schwarzmayr T, Strom TM, Jentsch TJ, Zennaro MC

in Nature genetics, 2018-02-05; Vol. ( pmid : 29403012)


Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

By Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D

in Kidney international, 2018-02-01; Vol. ( pmid : 29398133)


Promoting Mental Health Help-Seeking Behavior Among First-Year College Students.

By Pace K, Silk K, Nazione S, Fournier L, Collins-Eaglin J

in Health communication, 2018-02; Vol. 33 (2) ( pmid : 27976923)


Duodenal duplication cyst: a rare cause of recurrent pancreatitis.

By Perrod G, Rahmi G, Samaha E, Vienne A, Cellier C

in VideoGIE : an official video journal of the American Society for Gastrointestinal Endoscopy, 2018-02; Vol. 3 (2) ( pmid : 29905171)


Iodine-based contrast media, multiple myeloma and monoclonal gammopathies: literature review and ESUR Contrast Media Safety Committee guidelines.

By Stacul F, Bertolotto M, Thomsen HS, Pozzato G, Ugolini D, Bellin MF, Bongartz G, Clement O, Heinz-Peer G, van der Molen A, Reimer P, Webb JAW,

in European radiology, 2018-02; Vol. 28 (2) ( pmid : 28856420)


Complement-Activating Anti-HLA Antibodies in Kidney Transplantation: Allograft Gene Expression Profiling and Response to Treatment.

By Lefaucheur C, Viglietti D, Hidalgo LG, Ratner LE, Bagnasco SM, Batal I, Aubert O, Orandi BJ, Oppenheimer F, Bestard O, Rigotti P, Reisaeter AV, Kamar N, Lebranchu Y, Duong Van Huyen JP, Bruneval P, Glotz D, Legendre C, Empana JP, Jouven X, Segev DL, Montgomery RA, Zeevi A, Halloran PF, Loupy A

in Journal of the American Society of Nephrology : JASN, 2018-02; Vol. 29 (2) ( pmid : 29042454)