Výsledky vyhledávání - "Valentina Ottaviani"

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

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)

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

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Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involvingCHD8gene, is associated with autism and macrocephaly

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

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DPP6 gene disruption in a family with Gilles de la Tourette syndrome

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

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A novel MED12 mutation: Evidence for a fourth phenotype

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

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

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2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment

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

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Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression?

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/

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Akademický článek

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.

Autor: Prontera, Paolo¹, Rogaia, Daniela¹, Mencarelli, Amedea¹, Sallicandro, Ester¹, Stangoni, Gabriela¹, Ottaviani, Valentina², Merla, Giuseppe², Guercini, Giorgio³, Esposito, Susanna⁴, Bersano, Anna⁵

Publikováno v: International Journal of Molecular Sciences. Sep2017, Vol. 18 Issue 9, p1998. 9p. 1 Color Photograph, 1 Black and White Photograph, 2 Charts, 1 Graph.

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