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Page 1
Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.
Rostomyan L, Daly AF, Petrossians P, Nachev E, Lila AR, Lecoq AL, Lecumberri B, Trivellin G, Salvatori R, Moraitis AG, Holdaway I, Kranenburg-van Klaveren DJ, Chiara Zatelli M, Palacios N, Nozieres C, Zacharin M, Ebeling T, Ojaniemi M, Rozhinskaya L, Verrua E, Jaffrain-Rea ML, Filipponi S, Gusakova D, Pronin V, Bertherat J, Belaya Z, Ilovayskaya I, Sahnoun-Fathallah M, Sievers C, Stalla GK, Castermans E, Caberg JH, Sorkina E, Auriemma RS, Mittal S, Kareva M, Lysy PA, Emy P, De Menis E, Choong CS, Mantovani G, Bours V, De Herder W, Brue T, Barlier A, Neggers SJ, Zacharieva S, Chanson P, Shah NS, Stratakis CA, Naves LA, Beckers A. Rostomyan L, et al. Among authors: bertherat j. Endocr Relat Cancer. 2015 Oct;22(5):745-57. doi: 10.1530/ERC-15-0320. Epub 2015 Jul 17. Endocr Relat Cancer. 2015. PMID: 26187128 Free PMC article.
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: bertherat j. 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.
Mutation of perinatal myosin heavy chain.
Stratakis CA, Bertherat J, Carney JA. Stratakis CA, et al. Among authors: bertherat j. N Engl J Med. 2004 Dec 9;351(24):2556-8; author reply 2556-8. doi: 10.1056/NEJM200412093512420. N Engl J Med. 2004. PMID: 15590965 No abstract available.
Clinical characterization of familial isolated pituitary adenomas.
Daly AF, Jaffrain-Rea ML, Ciccarelli A, Valdes-Socin H, Rohmer V, Tamburrano G, Borson-Chazot C, Estour B, Ciccarelli E, Brue T, Ferolla P, Emy P, Colao A, De Menis E, Lecomte P, Penfornis F, Delemer B, Bertherat J, Wémeau JL, De Herder W, Archambeaud F, Stevenaert A, Calender A, Murat A, Cavagnini F, Beckers A. Daly AF, et al. Among authors: bertherat j. J Clin Endocrinol Metab. 2006 Sep;91(9):3316-23. doi: 10.1210/jc.2005-2671. Epub 2006 Jun 20. J Clin Endocrinol Metab. 2006. PMID: 16787992 Free article.
Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population.
Horvath A, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, Stratakis CA. Horvath A, et al. Among authors: bertherat j. Cancer Res. 2006 Dec 15;66(24):11571-5. doi: 10.1158/0008-5472.CAN-06-2914. Cancer Res. 2006. PMID: 17178847
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.
Cazabat L, Libè R, Perlemoine K, René-Corail F, Burnichon N, Gimenez-Roqueplo AP, Dupasquier-Fediaevsky L, Bertagna X, Clauser E, Chanson P, Bertherat J, Raffin-Sanson ML. Cazabat L, et al. Among authors: bertherat j. Eur J Endocrinol. 2007 Jul;157(1):1-8. doi: 10.1530/EJE-07-0181. Eur J Endocrinol. 2007. PMID: 17609395
Large deletions of the PRKAR1A gene in Carney complex.
Horvath A, Bossis I, Giatzakis C, Levine E, Weinberg F, Meoli E, Robinson-White A, Siegel J, Soni P, Groussin L, Matyakhina L, Verma S, Remmers E, Nesterova M, Carney JA, Bertherat J, Stratakis CA. Horvath A, et al. Among authors: bertherat j. Clin Cancer Res. 2008 Jan 15;14(2):388-95. doi: 10.1158/1078-0432.CCR-07-1155. Clin Cancer Res. 2008. PMID: 18223213
A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.
Horvath A, Giatzakis C, Tsang K, Greene E, Osorio P, Boikos S, Libè R, Patronas Y, Robinson-White A, Remmers E, Bertherat J, Nesterova M, Stratakis CA. Horvath A, et al. Among authors: bertherat j. Eur J Hum Genet. 2008 Oct;16(10):1245-53. doi: 10.1038/ejhg.2008.85. Epub 2008 Apr 23. Eur J Hum Genet. 2008. PMID: 18431404 Free PMC article.
Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors.
Meoli E, Bossis I, Cazabat L, Mavrakis M, Horvath A, Stergiopoulos S, Shiferaw ML, Fumey G, Perlemoine K, Muchow M, Robinson-White A, Weinberg F, Nesterova M, Patronas Y, Groussin L, Bertherat J, Stratakis CA. Meoli E, et al. Among authors: bertherat j. Cancer Res. 2008 May 1;68(9):3133-41. doi: 10.1158/0008-5472.CAN-08-0064. Cancer Res. 2008. PMID: 18451138 Free PMC article.
465 results