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Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenický P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA. Trivellin G, et al. Among authors: Villa C. N Engl J Med. 2014 Dec 18;371(25):2363-74. doi: 10.1056/NEJMoa1408028. Epub 2014 Dec 3. N Engl J Med. 2014. PMID: 25470569 Free PMC article.
Characterization of GPR101 transcript structure and expression patterns.
Trivellin G, Bjelobaba I, Daly AF, Larco DO, Palmeira L, Faucz FR, Thiry A, Leal LF, Rostomyan L, Quezado M, Schernthaner-Reiter MH, Janjic MM, Villa C, Wu TJ, Stojilkovic SS, Beckers A, Feldman B, Stratakis CA. Trivellin G, et al. Among authors: Villa C. J Mol Endocrinol. 2016 Aug;57(2):97-111. doi: 10.1530/JME-16-0045. Epub 2016 Jun 9. J Mol Endocrinol. 2016. PMID: 27282544 Free PMC article.
X-linked acrogigantism syndrome: clinical profile and therapeutic responses.
Beckers A, Lodish MB, Trivellin G, Rostomyan L, Lee M, Faucz FR, Yuan B, Choong CS, Caberg JH, Verrua E, Naves LA, Cheetham TD, Young J, Lysy PA, Petrossians P, Cotterill A, Shah NS, Metzger D, Castermans E, Ambrosio MR, Villa C, Strebkova N, Mazerkina N, Gaillard S, Barra GB, Casulari LA, Neggers SJ, Salvatori R, Jaffrain-Rea ML, Zacharin M, Santamaria BL, Zacharieva S, Lim EM, Mantovani G, Zatelli MC, Collins MT, Bonneville JF, Quezado M, Chittiboina P, Oldfield EH, Bours V, Liu P, W de Herder W, Pellegata N, Lupski JR, Daly AF, Stratakis CA. Beckers A, et al. Among authors: Villa C. Endocr Relat Cancer. 2015 Jun;22(3):353-67. doi: 10.1530/ERC-15-0038. Epub 2015 Feb 24. Endocr Relat Cancer. 2015. PMID: 25712922 Free PMC article.
Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.
Naves LA, Daly AF, Dias LA, Yuan B, Zakir JC, Barra GB, Palmeira L, Villa C, Trivellin G, Júnior AJ, Neto FF, Liu P, Pellegata NS, Stratakis CA, Lupski JR, Beckers A. Naves LA, et al. Among authors: Villa C. Endocrine. 2016 Feb;51(2):236-44. doi: 10.1007/s12020-015-0804-6. Epub 2015 Nov 25. Endocrine. 2016. PMID: 26607152 Free PMC article.
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.
Daly AF, Tichomirowa MA, Petrossians P, Heliövaara E, Jaffrain-Rea ML, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A, Cazabat L, De Menis E, Montañana CF, Raverot G, Weil RJ, Sane T, Maiter D, Neggers S, Yaneva M, Tabarin A, Verrua E, Eloranta E, Murat A, Vierimaa O, Salmela PI, Emy P, Toledo RA, Sabaté MI, Villa C, Popelier M, Salvatori R, Jennings J, Longás AF, Labarta Aizpún JI, Georgitsi M, Paschke R, Ronchi C, Valimaki M, Saloranta C, De Herder W, Cozzi R, Guitelman M, Magri F, Lagonigro MS, Halaby G, Corman V, Hagelstein MT, Vanbellinghen JF, Barra GB, Gimenez-Roqueplo AP, Cameron FJ, Borson-Chazot F, Holdaway I, Toledo SP, Stalla GK, Spada A, Zacharieva S, Bertherat J, Brue T, Bours V, Chanson P, Aaltonen LA, Beckers A. Daly AF, et al. Among authors: Villa C. J Clin Endocrinol Metab. 2010 Nov;95(11):E373-83. doi: 10.1210/jc.2009-2556. Epub 2010 Aug 4. J Clin Endocrinol Metab. 2010. PMID: 20685857
Hyperplasia-adenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein gene mutation.
Villa C, Lagonigro MS, Magri F, Koziak M, Jaffrain-Rea ML, Brauner R, Bouligand J, Junier MP, Di Rocco F, Sainte-Rose C, Beckers A, Roux FX, Daly AF, Chiovato L. Villa C, et al. Endocr Relat Cancer. 2011 Jun 8;18(3):347-56. doi: 10.1530/ERC-11-0059. Print 2011 Jun. Endocr Relat Cancer. 2011. PMID: 21450940
AIP-mutated acromegaly resistant to first-generation somatostatin analogs: long-term control with pasireotide LAR in two patients.
Daly AF, Rostomyan L, Betea D, Bonneville JF, Villa C, Pellegata NS, Waser B, Reubi JC, Waeber Stephan C, Christ E, Beckers A. Daly AF, et al. Among authors: Villa C. Endocr Connect. 2019 Apr;8(4):367-377. doi: 10.1530/EC-19-0004. Endocr Connect. 2019. PMID: 30851160 Free PMC article.
Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.
Hernández-Ramírez LC, Gam R, Valdés N, Lodish MB, Pankratz N, Balsalobre A, Gauthier Y, Faucz FR, Trivellin G, Chittiboina P, Lane J, Kay DM, Dimopoulos A, Gaillard S, Neou M, Bertherat J, Assié G, Villa C, Mills JL, Drouin J, Stratakis CA. Hernández-Ramírez LC, et al. Among authors: Villa C. Endocr Relat Cancer. 2017 Aug;24(8):379-392. doi: 10.1530/ERC-17-0131. Epub 2017 May 22. Endocr Relat Cancer. 2017. PMID: 28533356 Free PMC article.
Four potentially pathogenic missense variants in CABLES1 were identified, two in young adults (c.532G > A, p.E178K and c.718C > T, p.L240F) and two in children (c.935G > A, p.G312D and c.1388A > G, and p.D463G) with CD; no CNVs were found. ...
Four potentially pathogenic missense variants in CABLES1 were identified, two in young adults (c.532G > A, p.E178K and c.71 …
Genomic Alterations and Complex Subclonal Architecture in Sporadic GH-Secreting Pituitary Adenomas.
Hage M, Viengchareun S, Brunet E, Villa C, Pineau D, Bouligand J, Teglas JP, Adam C, Parker F, Lombès M, Tachdjian G, Gaillard S, Chanson P, Tosca L, Kamenický P. Hage M, et al. Among authors: Villa C. J Clin Endocrinol Metab. 2018 May 1;103(5):1929-1939. doi: 10.1210/jc.2017-02287. J Clin Endocrinol Metab. 2018. PMID: 29474559
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