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Carre, Aurore and Rachdi, Latif and Tron, Elodie and Richard, Bénédicte and Castanet, Mireille and Schlumberger, Martin and Bidart, Jean-Michel and Szinnai, Gabor and Polak, Michel. (2011) Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland development. PLoS ONE, Vol. 6, H. 2 , e16752.

Benzing, Jörg and Wellmann, Sven and Achini, Federica and Letzner, Julia and Burkhardt, Tilo and Beinder, Ernst and Morgenthaler, Nils G. and Haagen, Ulrike and Bucher, Hans Ulrich and Bührer, Christoph and Lapaire, Olav and Szinnai, Gabor. (2011) Plasma copeptin in preterm infants : a highly sensitive marker of fetal and neonatal stress. Journal of clinical endocrinology and metabolism, Vol. 96, H. 6 , E982-5.

Plasilova, Martina and Chattopadhyay, Chandon and Ghosh, Apurba and Wenzel, Friedel and Demougin, Philippe and Noppen, Christoph and Schaub, Nathalie and Szinnai, Gabor and Terracciano, Luigi and Heinimann, Karl. (2011) Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS). PLoS ONE, Vol. 6, H. 6 , e21433.

Filges, Isabel and Kunz, Christophe and Miny, Peter and Boesch, Nemya and Szinnai, Gabor and Wenzel, Friedel and Tschudin, Sibil and Zumsteg, Urs and Heinimann, Karl. (2011) A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis. Fertility and sterility, 96 (4). pp. 851-855.


Wellmann, Sven and Benzing, Jörg and Cippà, Giuditta and Admaty, Deborah and Creutzfeldt, Ruth and Mieth, Romaine Arlettaz and Beinder, Ernst and Lapaire, Olav and Morgenthaler, Nils G. and Haagen, Ulrike and Szinnai, Gabor and Bührer, Christoph and Bucher, Hans Ulrich. (2010) High copeptin concentrations in umbilical cord blood after vaginal delivery and birth acidosis. Journal of clinical endocrinology and metabolism, Vol. 95, H. 11. pp. 5091-5096.

Guillot, Loïc and Carré, Aurore and Szinnai, Gabor and Castanet, Mireille and Tron, Elodie and Jaubert, Francis and Broutin, Isabelle and Counil, François and Feldmann, Delphine and Clement, Annick and Polak, Michel and Epaud, Ralph. (2010) NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome". Human mutation, Vol. 31, H. 2 , E1146-62.


Carré, Aurore and Szinnai, Gabor and Castanet, Mireille and Sura-Trueba, Sylvia and Tron, Elodie and Broutin-L'Hermite, Isabelle and Barat, Pascal and Goizet, Cyril and Lacombe, Didier and Moutard, Marie-Laure and Raybaud, Christine and Raynaud-Ravni, Catherine and Romana, Serge and Ythier, Hubert and Léger, Juliane and Polak, Michel. (2009) Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome : rescue by PAX8 synergism in one case. Human molecular genetics, Vol. 18. pp. 2266-2276.


Alimohammadi, M. and Björklund, P. and Hallgren, A. and Pöntynen, N. and Szinnai, G. and Shikama, N. and Keller, M. P. and Ekwall, O. and Kinkel, S. A. and Husebye, E. S. and Gustafsson, J. and Rorsman, F. and Peltonen, L. and Betterle, C. and Perheentupa, J. and Akerström, G. and Westin, G. and Scott, H. S. and Holländer, G. A. and Kämpe, O.. (2008) Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. The New England journal of medicine, Vol. 358, H. 10. pp. 1018-1028.