Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Morena Tremosini"'
Autor:
Maria Gnoli, Marco Gambarotti, Alberto Righi, Eric Lodewijk Staals, Andrea Evangelista, Morena Tremosini, Evelise Brizola, Marina Mordenti, Manila Boarini, Manuela Locatelli, Elena Pedrini, Luca Sangiorgi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is the secondary periphe
Externí odkaz:
https://doaj.org/article/39630631ea254982b0c1ea691e0ae7c2
Autor:
Marina Mordenti, Morena Tremosini, Manuela Locatelli, Maria Gnoli, Cristiana Forni, Elena Pedrini, Manila Boarini, Luca Sangiorgi
Publikováno v:
BMC Health Services Research, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Background Only a few studies explore the role of nurses in genetic counselling and genetic health care, and none of them is related to orphan diseases. In addition, few studies address the issue of finding variables that might affect the ec
Externí odkaz:
https://doaj.org/article/757a96f5360d46319f5d5a824e1c932e
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 11, p 9416 (2023)
Vitamin D affects several body functions, and thus general health, due to its pleiotropic activity. It plays a key role in bone metabolism, and its deficiency impacts bone development, leading to bone fragility. In osteogenesis imperfecta (OI), a gro
Externí odkaz:
https://doaj.org/article/5ab87a0a9b734db4a396588caf141483
Autor:
Maria Gnoli, Evelise Brizola, Morena Tremosini, Elena Pedrini, Margherita Maioli, Massimiliano Mosca, Alessandra Bassotti, Paola Castronovo, Cecilia Giunta, Luca Sangiorgi
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Collagen type I mutations are related to wide phenotypic expressions frequently causing an overlap of clinical manifestations, in particular between Osteogenesis Imperfecta (OI) and Ehlers-Danlos syndrome (EDS). Both disorders present inter- and intr
Externí odkaz:
https://doaj.org/article/dddc35148b444a1bb6d96359be781641
Autor:
Evelise Brizola, Maria Gnoli, Morena Tremosini, Paolo Nucci, Sara Bargiacchi, Andrea La Barbera, Sabrina Giglio, Luca Sangiorgi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmo
Externí odkaz:
https://doaj.org/article/8e460f872bfd43ac894500d53163cdf5
Autor:
Manila Boarini, Andrea Evangelista, Serena Corsini, Davide Maria Donati, Luca Sangiorgi, Morena Tremosini, Maria Gnoli, Stefano Stilli, Eric L. Staals, Diego Antonioli, Elena Pedrini, Giovanni Trisolino, Marina Mordenti
Publikováno v:
American journal of medical genetics. Part A. 185(11)
Multiple osteochondromas (MO) is a rare disorder, characterized by benign osteocartilaginous tumors (osteochondromas), arising from the perichondrium of bones. The osteochondromas increase during growth, frequently causing deformities and limitations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e46ff745f3a378fa80e14bc5aab85f1
https://pubmed.ncbi.nlm.nih.gov/34477285
https://pubmed.ncbi.nlm.nih.gov/34477285
Autor:
Paolo Nucci, Morena Tremosini, Sara Bargiacchi, Evelise Brizola, Luca Sangiorgi, Sabrina Giglio, Andrea La Barbera, Maria Gnoli
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmorphic fea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bd767fc899a44312b35a759cdbad52a
https://doaj.org/article/8e460f872bfd43ac894500d53163cdf5
https://doaj.org/article/8e460f872bfd43ac894500d53163cdf5
Autor:
Elena Pedrini, Luca Sangiorgi, Diego Antonioli, Manila Boarini, Maria Gnoli, Morena Tremosini, Marina Mordenti, Fei Shih
Publikováno v:
Bone. 139
Importance Multiple osteochondromas is a rare hereditary skeletal disorder, characterized by bony protrusions arising from growth plates on long bones during skeletal development. The disorder frequently leads to diminished stature, deformities and f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ab25cba1dac5070111420bce60ffd5d
https://pubmed.ncbi.nlm.nih.gov/32592948
https://pubmed.ncbi.nlm.nih.gov/32592948
Autor:
Luca Sangiorgi, Elena Pedrini, Cosimo Misciali, Carlotta Baraldi, Morena Tremosini, Annalisa Patrizi, Carlotta Gurioli, Ambra Di Altobrando, Iria Neri, Maria Gnoli
Publikováno v:
The Journal of dermatologyReferences. 47(9)
Melorheostosis (MEL) is a rare benign bone disorder that can be associated with several anomalies, including vascular abnormalities, nevus sebaceus, unilateral nevoid telangiectasia, linear scleroderma and hypertrichosis. We report the case of a 6-ye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43aa4fd12951bbff368c77bd984c2792
https://pubmed.ncbi.nlm.nih.gov/32656852
https://pubmed.ncbi.nlm.nih.gov/32656852
Autor:
Antonio Percesepe, Elena Pedrini, Evelise Brizola, Flavio Faletra, Agostino Gaudio, Maria Gnoli, Laura Campanacci, Maria Francesca Bedeschi, Annalucia Virdi, Luca Sangiorgi, Fiorella Gurrieri, Salvatore Gallone, Annamaria Milanesi, Morena Tremosini, Teresa Mattina, Iria Neri, Eric Lodewijk Staals
Publikováno v:
Calcified tissue international. 105(2)
Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. The disease is sporadic and the pathogenesis is still poorly understood. Occasionally, the same family can inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::293a3aa3eefa55be1412cc73d5516d63
https://pubmed.ncbi.nlm.nih.gov/31129707
https://pubmed.ncbi.nlm.nih.gov/31129707