Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Alessandra Gamucci"'
Autor:
Giovanni Morana, Claudia Nesti, Thea Giacomini, Livia Pisciotta, Maria Margherita Mancardi, Alessandra Gamucci, Stefano Doccini, Chiara Fiorillo, Elisa De Grandis, Lino Nobili, Filippo M. Santorelli
Publikováno v:
Neuropediatrics. 51:425-429
RTN4IP1 pathogenic variants (OPA10 syndrome) have been described in patients with early-onset recessive optic neuropathy and recently associated with a broader clinical spectrum, from isolated optic neuropathy to severe encephalopathies with epilepsy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10eee47438cd004a30571bebfff85bc2
https://doi.org/10.1055/s-0040-1708539
https://doi.org/10.1055/s-0040-1708539
Autor:
Maria D'Apruzzo, Edvige Veneselli, Elisa De Grandis, Alessandra Gamucci, Maria Margherita Mancardi, Sara Uccella, Lucia Sciarretta, Maria Grazia Calevo
Publikováno v:
Journal of child and adolescent psychopharmacology. 29(4)
Objectives: Whether PANS (pediatric acute-onset neuropsychiatric syndrome) and PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection) represent tr...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc8964a6ad107fb758e7bffc8cea5da6
https://pubmed.ncbi.nlm.nih.gov/30724577
https://pubmed.ncbi.nlm.nih.gov/30724577
Autor:
Giorgio Gimelli, Patrizia Fiorio, Mariasavina Severino, Thea Giacomini, Alessandra Gamucci, Elisa Tassano, Patrizia Ronchetto
Publikováno v:
Cytogenetic and Genome Research. 152:22-28
17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b177a2008d437e82929320a3fac053b1
https://doi.org/10.1159/000477292
https://doi.org/10.1159/000477292
Autor:
Margherita Baldassarri, Alessandra Renieri, Chiara Fallerini, Francesca Mari, Maria Margherita Mancardi, Filomena Tiziana Papa, Laura Zalba-Jadraque, Veronica Della Chiara, Alessandra Gamucci, Elisa Frullanti, Edvige Veneselli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e31dd9392e07f62212d35b4c106e71
http://hdl.handle.net/11365/1033379
http://hdl.handle.net/11365/1033379
Autor:
Elisa, Tassano, Thea, Giacomini, Mariasavina, Severino, Alessandra, Gamucci, Patrizia, Fiorio, Giorgio, Gimelli, Patrizia, Ronchetto
Publikováno v:
Cytogenetic and genome research. 152(1)
17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d91fd9af383fe94a97e8ff74d836b167
https://pubmed.ncbi.nlm.nih.gov/28605748
https://pubmed.ncbi.nlm.nih.gov/28605748
Autor:
Giorgio Gimelli, Patrizia Ronchetto, Cristina Cuoco, Maria Elena Celle, Elisa Tassano, Alessandra Gamucci
Publikováno v:
Cytogenetic and genome research. 146(1)
Interstitial 1p deletions are rare events. Very few cases of 1p31.1p31.3 deletions characterized by variable phenotypes have been reported. No clear genotype-phenotype correlation has been determined yet. We present a child with a de novo interstitia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c10d4f22fefd6d5eee22feb03037c1d8
https://pubmed.ncbi.nlm.nih.gov/26112959
https://pubmed.ncbi.nlm.nih.gov/26112959
Publikováno v:
Italian Journal of Pediatrics
Background: Methadone is commonly prescribed as a substitute for illicit opioids. Use of methadone during pregnancy is associated with neonatal abstinence syndrome (NAS), reduced head circumference as well as a slight increase in neonatal mortality a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b86ad2e806272b74e33490794de9c47
http://hdl.handle.net/11568/951226
http://hdl.handle.net/11568/951226