High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F11%3A8733" target="_blank" >RIV/00216208:11110/11:8733 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/11:8733
Result on the web
<a href="http://dx.doi.org/10.1530/EJE-11-0304" target="_blank" >http://dx.doi.org/10.1530/EJE-11-0304</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas
Original language description
Aryl hydrocarbon receptor interacting protein (AIP) mutations (AIPmut) cause aggressive pituitary adenomas in young patients, usually in the setting of familial isolated pituitary adenomas. The prevalence of AIPmut among sporadic pituitary adenoma patients appears to be low; studies have not addressed prevalence in the most clinically relevant population. Hence, we undertook an international, multicenter, prospective genetic, and clinical analysis at 21 tertiary referral endocrine departments. Methods:We included 163 sporadic pituitary macroadenoma patients irrespective of clinical phenotype diagnosed at <30 years of age. Results: Overall, 19/163 (11.7%) patients had germline AIPmut; a further nine patients had sequence changes of uncertain significance or polymorphisms. AIPmut were identified in 8/39 (20.5%) pediatric patients. Ten AIPmut were identified in 11/83 (13.3%) sporadic somatotropinoma patients, in 7/61 (11.5%) prolactinoma patients, and in 1/16 non-functioning pituitary ad
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FB - Endocrinology, diabetology, metabolism, nutrition
OECD FORD branch
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Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
European Journal of Endocrinology
ISSN
0804-4643
e-ISSN
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Volume of the periodical
165
Issue of the periodical within the volume
4
Country of publishing house
GB - UNITED KINGDOM
Number of pages
7
Pages from-to
509-515
UT code for WoS article
000295958700004
EID of the result in the Scopus database
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