image description

Team publications

2019

Transcriptome analysis of lncRNAs in pheochromocytomas and paragangliomas.

By Job S, Georges A, Burnichon N, Buffet A, Amar L, Bertherat J, Bouatia-Naji N, de Reyniès A, Drui D, Lussey-Lepoutre C, Favier J, Gimenez-Roqueplo AP, Castro-Vega LJ

in The Journal of clinical endocrinology and metabolism, 2019-11-02; Vol. ( pmid : 31678991)


2017

Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4.

By Mazzella JM, Frank M, Collignon P, Langeois M, Legrand A, Jeunemaitre X, Albuisson J

in Clinical genetics, 2017-03; Vol. 91 (3) ( pmid : 27440102)


The 2017 international classification of the Ehlers-Danlos syndromes.

By Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B

in American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03; Vol. 175 (1) ( pmid : 28306229)


Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.

By Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N

in American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03; Vol. 175 (1) ( pmid : 28306228)


Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

By Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB

in Genetics in medicine : official journal of the American College of Medical Genetics, 2017-02-02; Vol. ( pmid : 28151489)