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Page 1
Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD.
Groussin L, Kirschner LS, Vincent-Dejean C, Perlemoine K, Jullian E, Delemer B, Zacharieva S, Pignatelli D, Carney JA, Luton JP, Bertagna X, Stratakis CA, Bertherat J. Groussin L, et al. Among authors: pignatelli d. Am J Hum Genet. 2002 Dec;71(6):1433-42. doi: 10.1086/344579. Epub 2002 Nov 6. Am J Hum Genet. 2002. PMID: 12424709 Free PMC article.
EndoBridge 2023: highlights and pearls.
Yildiz BO, Boguszewski CL, da Silva Boguszewski MC, Busetto L, Celik O, Fuleihan GE, Goulis DG, Hammer GD, Haymart MR, Kaltsas G, Law JR, Lim AYL, Luger A, Macut D, McGowan B, McClung M, Miras AD, Patti ME, Peeters RP, Pignatelli D, Saeed H, Sipos J, Stratakis CA, Tsoli M, van der Lely AJ, Witchel SF, Yazici D. Yildiz BO, et al. Among authors: pignatelli d. Hormones (Athens). 2024 Jun;23(2):183-204. doi: 10.1007/s42000-024-00549-8. Epub 2024 Apr 15. Hormones (Athens). 2024. PMID: 38619812
Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort.
Carriço JN, Gonçalves CI, Al-Naama A, Syed N, Aragüés JM, Bastos M, Fonseca F, Borges T, Pereira BD, Pignatelli D, Carvalho D, Cunha F, Saavedra A, Rodrigues E, Saraiva J, Ruas L, Vicente N, Martin Martins J, De Sousa Lages A, Oliveira MJ, Castro-Correia C, Melo M, Martins RG, Couto J, Moreno C, Martins D, Oliveira P, Martins T, Martins SA, Marques O, Meireles C, Garrão A, Nogueira C, Baptista C, Gama-de-Sousa S, Amaral C, Martinho M, Limbert C, Barros L, Vieira IH, Sabino T, Saraiva LR, Lemos MC. Carriço JN, et al. Among authors: pignatelli d. Hum Reprod Open. 2024 Sep 11;2024(3):hoae053. doi: 10.1093/hropen/hoae053. eCollection 2024. Hum Reprod Open. 2024. PMID: 39308770 Free PMC article.
European survey of diagnosis and management of the polycystic ovary syndrome: full report on the ESE PCOS Special Interest Group's 2023 Questionnaire.
Livadas S, Yildiz BO, Mastorakos G, Gambineri A, Pignatelli D, Giorgino F, Andersen MS, Obermayer-Pietsch B, Macut D; ESE PCOS Special Interest Group. Livadas S, et al. Among authors: pignatelli d. Eur J Endocrinol. 2024 Aug 5;191(2):134-143. doi: 10.1093/ejendo/lvae085. Eur J Endocrinol. 2024. PMID: 39099229
Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia.
Auchus RJ, Hamidi O, Pivonello R, Bancos I, Russo G, Witchel SF, Isidori AM, Rodien P, Srirangalingam U, Kiefer FW, Falhammar H, Merke DP, Reisch N, Sarafoglou K, Cutler GB Jr, Sturgeon J, Roberts E, Lin VH, Chan JL, Farber RH; CAHtalyst Adult Trial Investigators. Auchus RJ, et al. N Engl J Med. 2024 Aug 8;391(6):504-514. doi: 10.1056/NEJMoa2404656. Epub 2024 Jun 1. N Engl J Med. 2024. PMID: 38828955 Free PMC article. Clinical Trial.
86 results