作者
Adrian F Daly, Jean-François Vanbellinghen, Sok Kean Khoo, Marie-Lise Jaffrain-Rea, Luciana A Naves, Mirtha A Guitelman, Arnaud Murat, Philippe Emy, Anne-Paule Gimenez-Roqueplo, Guido Tamburrano, Gérald Raverot, Anne Barlier, Wouter De Herder, Alfred Penfornis, Enrica Ciccarelli, Bruno Estour, Pierre Lecomte, Blandine Gatta, Olivier Chabre, María Isabel Sabaté, Xavier Bertagna, Natalia Garcia Basavilbaso, Graciela Stalldecker, Annamaria Colao, Piero Ferolla, Jean-Louis Wémeau, Philippe Caron, Jean-Louis Sadoul, Adriana Oneto, Françoise Archambeaud, Alain Calender, Olga Sinilnikova, Carmen Fajardo Montañana, Francesco Cavagnini, Vaclav Hana, Angela Solano, Dreanina Delettieres, Douglas C Luccio-Camelo, Armando Basso, Vincent Rohmer, Thierry Brue, Vincent Bours, Bin Tean Teh, Albert Beckers
发表日期
2007/5/1
期刊
The Journal of Clinical Endocrinology & Metabolism
卷号
92
期号
5
页码范围
1891-1896
出版商
Oxford University Press
简介
Context: An association between germline aryl hydrocarbon receptor-interacting protein (AIP) gene mutations and pituitary adenomas was recently shown.
Objective: The objective of the study was to assess the frequency of AIP gene mutations in a large cohort of patients with familial isolated pituitary adenoma (FIPA).
Design: This was a multicenter, international, collaborative study.
Setting: The study was conducted in 34 university endocrinology and genetics departments in nine countries.
Patients: Affected members from each FIPA family were studied. Relatives of patients with AIP mutations underwent AIP sequence analysis.
Main Outcome Measures: Presence/absence and description of AIP gene mutations were the main outcome measures.
Intervention: There was no intervention.
Results: Seventy-three FIPA families were …
引用总数
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AF Daly, JF Vanbellinghen, SK Khoo, ML Jaffrain-Rea… - The Journal of Clinical Endocrinology & Metabolism, 2007