Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Maria Antonia Maffini"'
Autor:
Walter Vena, Valentina Morelli, Maria Carrabba, Francesca Elli, Giovanna Fabio, Ilaria Muller, Camilla Lucca, Maria Antonia Maffini, Andrea Gerardo Lania, Giovanna Mantovani, Maura Arosio
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Primary bilateral macronodular adrenal hyperplasia (PBMAH) represents an uncommon cause of endogenous hypercortisolism. Since the first description in 2003 in a French cohort, many papers have been published describing families as well as isolated in
Externí odkaz:
https://doaj.org/article/5e9708645e1841b280baf47e66b1547f
Autor:
Francesca Marta Elli, Luisa de Sanctis, Massimiliano Bergallo, Maria Antonia Maffini, Arianna Pirelli, Ilaria Galliano, Paolo Bordogna, Maura Arosio, Giovanna Mantovani
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
McCune–Albright syndrome (MAS) is a rare congenital disorder characterized by the association of endocrine and nonendocrine anomalies caused by somatic activating variants of GNAS. The mosaic state of variants makes the clinical presentation extrem
Externí odkaz:
https://doaj.org/article/7fb4cec2013743378eb3932dd052e02c
Akademický článek
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Autor:
Sofia Frigerio, Valentina Morelli, Elli Francesca Marta, Walter Vena, Maria Antonia Maffini, Camilla Lucca, Matteo Piu, Nicola Mora, Serena Palmieri, Giovanna Mantovani, Maura Arosio
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c6885dcd68d8c9945585d5db62c5643
https://doi.org/10.1530/endoabs.81.p16
https://doi.org/10.1530/endoabs.81.p16
Autor:
Paolo Bordogna, Bruno Madeo, Luisa De Sanctis, Francesca Elli, Giovanna Mantovani, Maria Antonia Maffini, Maura Arosio, Arianna Pirelli
Publikováno v:
Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 10 (2019)
Frontiers in Endocrinology, Vol 10 (2019)
Pseudohypoparathyroidism (PHP) is a rare endocrine disorder derived from the defective activation of the cAMP pathway by the parathyroid hormone secondary to GNAS molecular defects. PHP subtypes are defined by the presence/absence of specific clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26b9a9dd44ecbcf33c77e84e902bb687
http://europepmc.org/articles/PMC6727065
http://europepmc.org/articles/PMC6727065
Autor:
Maria Antonia Maffini, L. deSanctis, Arianna Pirelli, Agnès Linglart, Maura Arosio, Giovanna Mantovani, Francesca Elli, Paolo Bordogna, Daniele Tessaris
Publikováno v:
Clinical Epigenetics
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-8 (2019)
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-8 (2019)
Background The term pseudohypoparathyroidism (PHP) describes disorders derived from resistance to the parathyroid hormone. Albright hereditary osteodystrophy (AHO) is a disorder with several physical features that can occur alone or in association wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2de7778a0a69018019b91d3811e6a43
http://europepmc.org/articles/PMC6322333
http://europepmc.org/articles/PMC6322333
Autor:
Valentina Cirello, Laura Fugazzola, Marina Muzza, Simone De Leo, Michela Perrino, Carla Colombo, Maria Antonia Maffini
Publikováno v:
International Journal of Cancer. 137:2989-2993
Fetal cell microchimerism (FCM) is defined as the persistence of fetal cells in maternal organs and circulation without any apparent rejection and it was hypothesized to protect toward the onset of some neoplastic diseases. To verify the role of FCM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21f49e7d37ec61f142e291acde744352
https://doi.org/10.1002/ijc.29653
https://doi.org/10.1002/ijc.29653
Autor:
Maria Antonia Maffini, Valentina Cirello, I. Zamproni, Giovanna Weber, Marina Muzza, Laura Fugazzola, F. Gallo, Paolo Beck-Peccoz, K. Maruca, Luciano Beccaria, Soo-Mi Park, Luca Persani, Nadia Schoenmakers, Maria Cristina Vigone, Sarah Rabbiosi
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 99:E544-E553
CONTEXT: Mutations in the DUOX2 gene have been associated with transient or permanent congenital hypothyroidism due to a dyshormonogenic defect. OBJECTIVE: This study aimed to verify the prevalence of DUOX2 mutations and the associated clinical featu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff18e19186f2efa1caac827da8cdfc92
https://doi.org/10.1210/jc.2013-3618
https://doi.org/10.1210/jc.2013-3618
Autor:
Carla Colombo, Laura Fugazzola, Roberta Rizzo, Federica de Liso, Valentina Cirello, Maria Antonia Maffini, Milena Crippa, Palma Finelli, Silvia Bolzani, Daria Bortolotti, Stefano Ferrero, Guia Vannucchi, Irene Campi
Publikováno v:
European journal of endocrinology. 173(1)
ObjectiveThe physiological persistence of fetal cells in the circulation and tissue of a previously pregnant woman is called fetal cell microchimerism (FCM). It has been hypothesized to play a role in systemic autoimmune disease; however, only limite
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e82982dab7bbe63a009ee35cfbcf381
https://pubmed.ncbi.nlm.nih.gov/25916393
https://pubmed.ncbi.nlm.nih.gov/25916393
Autor:
B. Masserini, Silvia Bergamaschi, Cristina Eller-Vainicher, Paolo Beck-Peccoz, Alfredo Scillitani, Bruno Ambrosi, Anna Maria Barbieri, Maria Antonia Maffini, Federica Ermetici, Iacopo Chiodini, Valentina Morelli
Publikováno v:
European journal of endocrinology. 160(1)
ObjectiveThe criteria for defining subclinical hypercortisolism (SH) are debated and a real gold standard test or combination of tests is lacking. Recently, late-night salivary cortisol (MSC) has been described as a sensitive and easy-to-perform mark
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c671f244e25edbd69b00b9065d19b0e
https://pubmed.ncbi.nlm.nih.gov/18835977
https://pubmed.ncbi.nlm.nih.gov/18835977