Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Angela, Michelucci"'
Autor:
Elisa Dinoi, Alessandro Prete, Chiara Sardella, Laura Pierotti, Simone Della Valentina, Anna Dal Lago, Simona Borsari, Elena Pardi, Maria Adelaide Caligo, Angela Michelucci, Liborio Torregrossa, Piercarlo Rossi, Filomena Cetani
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
BackgroundBrown tumors are rare bone manifestations of primary hyperparathyroidism (PHPT) that may occur at different sites either as single or multiple lesions and they can easily be mistaken for malignant lesions. Neither bone site nor morphologica
Externí odkaz:
https://doaj.org/article/a52a770de3374413a70d323dd4e7019b
Autor:
Laura Pierotti, Elena Pardi, Elisa Dinoi, Paolo Piaggi, Simona Borsari, Simone Della Valentina, Chiara Sardella, Angela Michelucci, Maria Adelaide Caligo, Fausto Bogazzi, Claudio Marcocci, Filomena Cetani
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
BackgroundMultiple Endocrine Neoplasia type 1 is a rare genetic syndrome mainly caused by mutations of MEN1 gene and characterized by a combination of several endocrine and non-endocrine manifestations. The objective of this study was to describe cut
Externí odkaz:
https://doaj.org/article/cddfb34863d94a4abb05977b30766764
Autor:
Maria Cristina Campopiano, Antonella Fogli, Angela Michelucci, Laura Mazoni, Antonella Longo, Simona Borsari, Elena Pardi, Elena Benelli, Chiara Sardella, Laura Pierotti, Elisa Dinoi, Claudio Marcocci, Filomena Cetani
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
The WNT1 gene is crucial for bone development and homeostasis. Homozygous mutations in WNT1 cause severe bone fragility known as osteogenesis imperfecta type XV. Moreover, heterozygous WNT1 mutations have been found in adults with early-onset osteopo
Externí odkaz:
https://doaj.org/article/64b0f84b0db84b1f96485bb926b48c52
Autor:
Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto, Carlo Foresta
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations inc
Externí odkaz:
https://doaj.org/article/ec0418864d154a54a64a749b4eca1e68
Autor:
Massimo, Pifferi, Attilio L, Boner, Serena, Gracci, Rossella, Fonnesu, Debora, Maj, Gabriele, Donzelli, Angela, Michelucci, Angela, Cangiotti, Veronica, Bertini, Angelo, Valetto, Maria Adelaide, Caligo, Mario, Miccoli, Diego, Peroni, Andrew, Bush
Publikováno v:
Chest. 162:1265-1276
We hypothesized that differences in nasal nitric oxide (nNO) and fractional exhaled nitric oxide (Feno) relate to prognosis in primary ciliary dyskinesia (PCD).What is the relationship between baseline values and longitudinal evolution of nNO and Fen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd22129e7c02010709cb14afa0b59e34
https://doi.org/10.1016/j.chest.2022.06.019
https://doi.org/10.1016/j.chest.2022.06.019
Autor:
Carlotta Giani, Teresa Ramone, Cristina Romei, Raffaele Ciampi, Alessia Tacito, Laura Valerio, Laura Agate, Clara Ugolini, Michele Marinò, Fulvio Basolo, Alessandro Franchi, Simona Borsari, Angela Michelucci, Cesare Selli, Gabriele Materazzi, Filomena Cetani, Rossella Elisei
Publikováno v:
Case Reports in Endocrinology, Vol 2020 (2020)
Background. Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by RET proto-oncogene mutation. Two different clinical variants of MEN2 are known (MEN2A and MEN2B): medullary thyroid carcinoma (MTC) almost always present
Externí odkaz:
https://doaj.org/article/735b841494db4930aef14e21dfdc9d20
Autor:
Rita Fischetto, Viviana V. Palmieri, Maria E. Tripaldi, Alberto Gaeta, Angela Michelucci, Maurizio Delvecchio, Ruggiero Francavilla, Paola Giordano
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Alagille syndrome is an autosomal dominant multisystem disorder with variable phenotypic penetrance, caused by heterozygous mutations in JAG1 or NOTCH2, encoding for the components of the Notch signaling pathway. In this paper, we described a novel m
Externí odkaz:
https://doaj.org/article/e7c7939686b64aa69b89969aeb09cc2c
Autor:
Maria Giulia Tozzi, Francesca Moscuzza, Angela Michelucci, Francesca Lorenzoni, Cinzia Cosini, Massimiliano Ciantelli, Paolo Ghirri
Publikováno v:
Frontiers in Pediatrics, Vol 6 (2018)
Background/Aims: IntraUterine (IUGR) and ExtraUterine Growth Restriction (EUGR) may induce reprogramming mechanisms, finalized to survive before and after birth. Nutritional factors and other environmental signals could regulate gene expression throu
Externí odkaz:
https://doaj.org/article/23311eb969a7449faf01ab9b94b18a16
Autor:
Michele Maffi, Giammarco De Mattia, Maria Rosa Mazzoni, Angela Michelucci, Benedetta Toschi, Caligo Maria Adelaide, Marta Mosca, Maurizio Mazzantini
Publikováno v:
SN Comprehensive Clinical Medicine. 5
Calcification of Joints and Arteries (CALJA) is a rare disease that leads to chronic arthritis and lower limb claudication due to hydroxyapatite crystal deposition. The disease is caused by mutations in the 5-nucleotidase (NT5E) gene, which is respon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a70c40e9a435c762a1237d296e4fe4a2
https://doi.org/10.1007/s42399-023-01485-1
https://doi.org/10.1007/s42399-023-01485-1
Autor:
Gianluigi Laccetta, Francesca Moscuzza, Angela Michelucci, Andrea Guzzetta, Sara Lunardi, Francesca Lorenzoni, Paolo Ghirri
Publikováno v:
Frontiers in Pediatrics, Vol 5 (2017)
Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestat
Externí odkaz:
https://doaj.org/article/aa7058d96bbb45ef9979b3795f86f50b