Výsledky vyhledávání - "Nicolas Patronas"

Differences in Adiposity in Cushing Syndrome Caused byPRKAR1AMutations: Clues for the Role of Cyclic AMP Signaling in Obesity and Diagnostic Implications

Autor: Maria Nesterova, Maya Lodish, Edra London, Evgenia Gourgari, Charalampos Lyssikatos, Nicolas Patronas, Anya Rothenbuhler, Maria de la Luz Sierra, Meg Keil, Constantine A. Stratakis

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 99:E303-E310

The cAMP signaling pathway is implicated in bilateral adrenocortical hyperplasias. Bilateral adrenocortical hyperplasia is often associated with ACTH-independent Cushing syndrome (CS) and may be caused by mutations in genes such as PRKAR1A, which is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c25b291145bc2ebb020c2635d65eed0
https://doi.org/10.1210/jc.2013-1956

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Inter-observer variability in the measurement of diffuse intrinsic pontine gliomas

Autor: Robert M. Hayward, Paul S. Albert, Gilbert Vezina, Eva H. Baker, Katherine E. Warren, Nicolas Patronas

Publikováno v: Journal of Neuro-Oncology. 90:57-61

Diffuse intrinsic pontine glioma (DIPG) is an invasive pediatric brainstem tumor with a poor prognosis. Patients commonly enter investigational trials, many of which use radiographic response as an endpoint for assessing drug efficacy. However, DIPGs

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::279c73ed67133cbf1d69685d97aa9fc8
https://doi.org/10.1007/s11060-008-9631-4

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An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein

Autor: Verónica Mericq, Nicolas Patronas, M. Martari, Sunita K. Agarwal, Yianna Patronas, Maya Lodish, Anelia Horvath, Limor Drori-Herishanu, Constantine A. Stratakis, Eirini I. Bimpaki, Roberto Salvatori, Maria Nesterova

Publikováno v: Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme. 41(8)

Prolactinomas are rare tumors in prepubertal children. A prolactinoma in a young child may be due to sequence variants in genes that are known to cause these tumors ( MEN1, PRKAR1A, AIP). An 11-year-old boy with a macroprolactinoma was treated with c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e374134a0428a86edacddb3bef209bf
https://pubmed.ncbi.nlm.nih.gov/19391077

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