Výsledky vyhledávání - "Alessia Trovato"

Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma

Autor: Reinhard Büttner, Katharina König, David Galas, Jochen G. Schneider, Alessia Trovato, Joachim Spranger, Ulf Elbelt, Reinhard Finke, Susanne Weber, Michael Kloth, Bruno Allolio, Cristina Wolf, Wiebke Arlt, Patrick May, Enno Gentz

Publikováno v: The Journal of clinical endocrinology and metabolism. 100(1)

Primary macronodular adrenal hyperplasia (PMAH) is a rare cause of Cushing's syndrome, which may present in the context of different familial multitumor syndromes. Heterozygous inactivating germline mutations of armadillo repeat containing 5 (ARMC5)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f122fbcc0c956681d611902b4495a77
https://pubmed.ncbi.nlm.nih.gov/25279498

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In Search of Adrenocortical Stem and Progenitor Cells

Autor: Gary D. Hammer, Kenneth T. Krill, Victoria R. Kelly, Alessia Trovato, Derek P. Simon, Tobias Else, Wei-Hsiung Yang, Ferdous M. Barlaskar, Alex C. Kim, Joshua O. Scheys, Joanne H. Heaton

Scientists have long hypothesized the existence of tissue-specific (somatic) stem cells and have searched for their location in different organs. The theory that adrenocortical organ homeostasis is maintained by undifferentiated stem or progenitor ce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::318513e88bd05877a9fd4b586491d10e
https://europepmc.org/articles/PMC2726842/

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Genetic p53 deficiency partially rescues the adrenocortical dysplasia phenotype at the expense of increased tumorigenesis

Autor: Peter C. Lucas, Rork Kuick, Tobias Else, Alessia Trovato, Alex C. Kim, Yipin Wu, Gary D. Hammer, David O. Ferguson

Publikováno v: Cancer cell. 15(6)

Summary Telomere dysfunction and shortening induce chromosomal instability and tumorigenesis. In this study, we analyze the adrenocortical dysplasia ( acd ) mouse, harboring a mutation in Tpp1/Acd . Additional loss of p53 dramatically rescues the acd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98fab1c48d59948bec061a1052e271f8
https://pubmed.ncbi.nlm.nih.gov/19477422

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Sleep phenotypes of intellectual disability: a polysomnographic evaluation in subjects with Down syndrome and Fragile X syndrome

Autor: Mario Giovanni Terzano, Elisabetta Verrillo, Arianna Smerieri, Silvia Miano, Oliviero Bruni, Maurizio Elia, Raffaele Ferri, Alessia Trovato, Lidia Scifo

Objective To analyze sleep architecture and NREM sleep alterations by means of the Cyclic Alternating Pattern (CAP) in children with Down syndrome (DS) and Fragile-X syndrome (fraX), the two most common causes of inherited mental retardation, in orde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92a05c0e84d42c2fcc66112ff7e7b1ea
http://hdl.handle.net/11573/119392

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Sleep in children with autistic spectrum disorder: a questionnaire and polysomnographic study

Autor: Raffaele Ferri, Oliviero Bruni, Mario Giovanni Terzano, Alessia Trovato, Michele Roccella, Arianna Smerieri, Elisabetta Verrillo, Silvia Miano, Maurizio Elia

Publikováno v: Sleep medicine. 9(1)

Objective To evaluate sleep in children with autistic spectrum disorder (ASD) by means of sleep questionnaires and polysomnography; moreover, to analyze their cyclic alternating pattern (CAP). Methods Thirty-one patients with ASD (28 males, 3 females

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e2646d026c8e21ce868649c1842fce2
https://pubmed.ncbi.nlm.nih.gov/17728182

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