Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Francesca Mercadante"'
Autor:
Francesca Mercadante, Ettore Piro, Martina Busè, Emanuela Salzano, Arturo Ferrara, Gregorio Serra, Cristina Passarello, Giovanni Corsello, Maria Piccione
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-7 (2022)
Abstract Background Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second most common cause of
Externí odkaz:
https://doaj.org/article/1123334782094f0f92fb59aba56dd920
Autor:
Emanuela Salzano, Marcello Niceta, Simone Pizzi, Francesca Clementina Radio, Martina Busè, Francesca Mercadante, Sabina Barresi, Arturo Ferrara, Cecilia Mancini, Marco Tartaglia, Maria Piccione
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Biallelic loss-of-function variants in MED23 cause a recessive syndromic intellectual disability condition with or without epilepsy (MRT18). Due to the small number of reported individuals, the clinical phenotype of the disorder has not been fully de
Externí odkaz:
https://doaj.org/article/01b5006b5d1d4f268118e73c35d37a3b
Autor:
Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne, Maria Piccione
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-8 (2020)
Abstract Background Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are protruding forehead i
Externí odkaz:
https://doaj.org/article/1edf30cb3cce437ba19efd36ba60433e
Autor:
Nicola Laforgia, Manuela Capozza, Lucrezia De Cosmo, Antonio Di Mauro, Maria Elisabetta Baldassarre, Francesca Mercadante, Anna Laura Torella, Vincenzo Nigro, Nicoletta Resta
Publikováno v:
Case Reports in Genetics, Vol 2018 (2018)
Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity
Externí odkaz:
https://doaj.org/article/b11466e850824b1dad55af73773c458f
Autor:
Martina Busè, Tiziana Fragapane, Emanuela Salzano, Maria Piccione, Francesca Mercadante, Daniela Palazzo, Michela Malacarne
Publikováno v:
Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-8 (2020)
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-8 (2020)
Background Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are protruding forehead in early l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::316a02fe608288962a47648404862809
http://europepmc.org/articles/PMC7389890
http://europepmc.org/articles/PMC7389890