Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Maria Gnoli"'
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
Autor:
Marina Mordenti, Manila Boarini, Federico Banchelli, Diego Antonioli, Serena Corsini, Maria Gnoli, Manuela Locatelli, Elena Pedrini, Eric Staals, Giovanni Trisolino, Marcella Lanza, Luca Sangiorgi
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2024)
IntroductionThe present study aims to describe a large cohort of Italian patients affected by osteogenesis imperfecta, providing a picture of the clinical bony and non-bony features and the molecular background to improve knowledge of the disease to
Externí odkaz:
https://doaj.org/article/b2a40acbb65c4dc8a66e41fd68594fc1
Autor:
Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini, Luca Sangiorgi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Background Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondrosarcoma and compare
Externí odkaz:
https://doaj.org/article/45965d4def734b6fb07d33073a0c9492
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
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundDespite the new next-generation sequencing (NGS) molecular approaches implemented the genetic testing in clinical diagnosis, copy number variation (CNV) detection from NGS data remains difficult mainly in the absence of bioinformatics perso
Externí odkaz:
https://doaj.org/article/a09ca03b26e24bba9508542aa1b6cce3
Autor:
Elena Pedrini, Antonella Negro, Eugenio Di Brino, Valentina Pecoraro, Camilla Sculco, Elisabetta Abelli, Maria Gnoli, Armando Magrelli, Luca Sangiorgi, Americo Cicchetti
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
Objective: Next-generation sequencing (NGS) technology, changing the diagnostic approach, has become essential in clinical settings, and its adoption by public health laboratories is now the practice. Despite this, as technological innovations, its i
Externí odkaz:
https://doaj.org/article/de9d6b70313d488cba2dfae16194ea56
Autor:
Agostino Gaudio, Anastasia Xourafa, Rosario Rapisarda, Cristina Gorgone, Maria Gnoli, Elena Pedrini, Luca Sangiorgi, Antonino Catalano, Luca Zanoli, Teresa Mattina, Pietro Castellino
Publikováno v:
Clinical Case Reports, Vol 9, Iss 2, Pp 922-926 (2021)
Abstract Osteopoikilosis (OP) is a rare autosomal dominant sclerosing bone disease, caused by heterozygous mutations in the LEMD3 gene. It is characterised by numerous focal lamellar bone compact deposits in the spongiosa. In this case report, we des
Externí odkaz:
https://doaj.org/article/da9186c2c2214b18993fcdac481bb25d
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