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PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C. Linglart A, et al. J Clin Endocrinol Metab. 2012 Dec;97(12):E2328-38. doi: 10.1210/jc.2012-2326. Epub 2012 Oct 5. J Clin Endocrinol Metab. 2012. PMID: 23043190 Clinical Trial.
Gonadotrophic status in adolescents with pituitary stalk interruption syndrome.
Rottembourg D, Linglart A, Adamsbaum C, Lahlou N, Teinturier C, Bougnères P, Carel JC. Rottembourg D, et al. Among authors: linglart a. Clin Endocrinol (Oxf). 2008 Jul;69(1):105-11. doi: 10.1111/j.1365-2265.2007.03155.x. Epub 2008 Jul 1. Clin Endocrinol (Oxf). 2008. PMID: 18088398
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth.
Mantovani G, Ferrante E, Giavoli C, Linglart A, Cappa M, Cisternino M, Maghnie M, Ghizzoni L, de Sanctis L, Lania AG, Beck-Peccoz P, Spada A. Mantovani G, et al. Among authors: linglart a. J Clin Endocrinol Metab. 2010 Nov;95(11):5011-7. doi: 10.1210/jc.2010-1649. Epub 2010 Aug 18. J Clin Endocrinol Metab. 2010. PMID: 20719837 Clinical Trial.
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.
Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, Motte E, Pinto G, Chanson P, Bougnères P, Clauser E, Silve C. Linglart A, et al. N Engl J Med. 2011 Jun 9;364(23):2218-26. doi: 10.1056/NEJMoa1012717. N Engl J Med. 2011. PMID: 21651393 Free article.
245 results