Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Valentina Ottaviani"'
Autor:
Giuseppe Merla, Giorgio Guercini, Amedea Mencarelli, Daniela Rogaia, Susanna Esposito, Valentina Ottaviani, Gabriela Stangoni, Anna Bersano, Paolo Prontera, Ester Sallicandro
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 18, Iss 9, p 1998 (2017)
International Journal of Molecular Sciences, Vol 18, Iss 9, p 1998 (2017)
Moyamoya angiopathy (MA) is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbe03ef4f069d08ef46c6df8b20672aa
http://hdl.handle.net/11588/873948
http://hdl.handle.net/11588/873948
Autor:
Daniela Rogaia, Daniela Toccaceli, Rita Romani, Gabriela Stangoni, Emilio Donti, Carmen Ardisia, Valentina Ottaviani, Paolo Prontera, Angiolo Pierini
Publikováno v:
American Journal of Medical Genetics Part A. 164:3137-3141
The most frequent causes of Intellectual Disability (ID)/Autism Spectrum Disorders (ASDs) are chromosomal abnormalities, genomic rearrangements and submicroscopic deletions coupled with duplications. We report here on an 11-year-old girl showing auti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65f2be075e17ce9a73c8dadc90406163
https://doi.org/10.1002/ajmg.a.36741
https://doi.org/10.1002/ajmg.a.36741
Autor:
Valerio Napolioni, Bartolomeo Augello, Giuseppe Merla, Emilio Donti, Domenico Serino, Andrea E. Cavanna, Daniela Rogaia, Laura Bernardini, Carmela Fusco, Paolo Prontera, Valentina Parisi, Valentina Ottaviani
Publikováno v:
neurogenetics. 15:237-242
Gilles de la Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor and vocal tics, frequently associated with psychiatric co-morbidities. Despite the significant level of heritability, the genetic architecture of TS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98a0da635b9fdf6b66bcf116929ff4ca
https://doi.org/10.1007/s10048-014-0418-9
https://doi.org/10.1007/s10048-014-0418-9
Autor:
Ilenia Isidori, Giuseppe Merla, Daniela Rogaia, Amedea Mencarelli, Paolo Prontera, Natascia Malerba, Valentina Ottaviani, Dario Cocciadiferro, Pfundt Rolph, Gabriela Stangoni, Anneke T. Vulto-van Silfhout
Publikováno v:
American Journal of Medical Genetics. Part A, 170, 2377-82
American Journal of Medical Genetics. Part A, 170, 9, pp. 2377-82
American Journal of Medical Genetics. Part A, 170, 9, pp. 2377-82
Mutations of the MED12 gene have been reported mainly in males with FG (Opitz-Kaveggia), Lujan-Fryns, or X-linked Ohdo syndromes. Recently, a different phenotype characterized by minor anomalies, severe intellectual disability (ID), and absent langua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb4fcaddda452efc8c3376264aeab7c
http://hdl.handle.net/2066/167762
http://hdl.handle.net/2066/167762
Autor:
Manuela Marra, Paolo Prontera, Fiorella Ciaffoni, Valentina Ottaviani, Francesca Masiello, Anna Rita Migliaccio, John A. Stamatoyannopoulos, Thalia Papayannopoulou, Sandra Stehling-Sun, Aurelio Maggio, Antonino Giambona, Alister P. W. Funnell, Lilian Varricchio, Maria Piccione
Publikováno v:
Blood. 126(1)
Elevated fetal hemoglobin (HbF) ameliorates the clinical severity of hemoglobinopathies such as β-thalassemia and sickle cell anemia. Currently, the only curative approach for individuals under chronic transfusion/chelation support therapy is alloge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ff28d754c9296f729dc69ee4da58e3f
https://pubmed.ncbi.nlm.nih.gov/26019277
https://pubmed.ncbi.nlm.nih.gov/26019277
Autor:
Paolo Prontera, Carmela Ardisia, G. Guercini, A. Bartocci, Emilio Donti, Amedea Mencarelli, Daniela Rogaia, Valentina Ottaviani, Ilenia Isidori
Aicardi syndrome (AIS), a rare neurodevelopmental disorder thought to be caused by an X-linked dominant mutation, is characterized by 3 main features: agenesis of corpus callosum, infantile spams and chorioretinal lacunae. A genome-wide study of a gi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ebe881ae49a89cdf375492f031af7fe
https://europepmc.org/articles/PMC3666458/
https://europepmc.org/articles/PMC3666458/
Publikováno v:
Annals of neurology. 72(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1a9471cce35c29ff6d48b6074f67aae
https://pubmed.ncbi.nlm.nih.gov/22213401
https://pubmed.ncbi.nlm.nih.gov/22213401