Corrigendum to 'Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy'

Autor: Giancarlo Iarossi, Matteo Bertelli, Paolo Enrico Maltese, Elena Gusson, Giorgio Marchini, Alice Bruson, Sabrina Benedetti, Sabrina Volpetti, Gino Catena, Luca Buzzonetti, Lucia Ziccardi

Publikováno v: Journal of Ophthalmology, Vol 2017 (2017)

Externí odkaz: https://doaj.org/article/6385196f9673407c93e4e1ae336719dd

Virologic and immunologic evidence supporting an association between HHV-6 and Hashimoto's thyroiditis.

Autor: Elisabetta Caselli, Maria Chiara Zatelli, Roberta Rizzo, Sabrina Benedetti, Debora Martorelli, Giorgio Trasforini, Enzo Cassai, Ettore C degli Uberti, Dario Di Luca, Riccardo Dolcetti

Publikováno v: PLoS Pathogens, Vol 8, Iss 10, p e1002951 (2012)

Hashimoto's thyroiditis (HT) is the most common of all thyroid diseases and is characterized by abundant lymphocyte infiltrate and thyroid impairment, caused by various cell- and antibody-mediated immune processes. Viral infections have been suggeste

Externí odkaz: https://doaj.org/article/ff9f57d5fee34a1a98dee635c30061b3

Hereditary thrombophilia

Autor: Astrit, Dautaj, Geraldo, Krasi, Vilma, Bushati, Vincenza, Precone, Miriam, Gheza, Francesco, Fioretti, Marianna, Sartori, Alisia, Costantini, Sabrina, Benedetti, Matteo, Bertelli

Publikováno v: Acta Bio Medica : Atenei Parmensis

Thrombophilia is a group of disorders in which blood has an increased tendency to clot. It may be caused by inherited or acquired conditions. Thrombophilia is associated with risk of deep venous thrombosis and/or venous thromboembolism. Factor V Leid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d84277122ef7ce98dc8cceac70c3d5b3
http://europepmc.org/articles/PMC7233636

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

Autor: Carla Marinelli, Paolo Ferri, Leonardo Colombo, Alessandra Zulian, Luca Rossetti, Christina Zeitz, Isabelle Audo, Said El Shamieh, Alisia Costantini, Marcella Percio, Simone Bressan, Paolo Enrico Maltese, Matteo Bertelli, Sabrina Benedetti, Marco Castori, Andi Abeshi

Publikováno v: Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, Association for Research in Vision and Ophthalmology, 2021, 62 (2), pp.13. ⟨10.1167/iovs.62.2.13⟩
Investigative Ophthalmology & Visual Science, 2021, 62 (2), pp.13. ⟨10.1167/iovs.62.2.13⟩

International audience; PURPOSE. To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients. METHODS. A total of 591 probands (315 with family history and 276 sporadics) were analyzed.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::514fa23487d0910518eefc385d8fd1fc
https://hal.sorbonne-universite.fr/hal-03142834/document

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy

Autor: Giorgio Marchini, Matteo Bertelli, Lucia Ziccardi, Alice Bruson, Gino Catena, Sabrina Benedetti, Luca Buzzonetti, Giancarlo Iarossi, Paolo Enrico Maltese, Sabrina Volpetti, Elena Gusson

Publikováno v: Journal of Ophthalmology
Journal of Ophthalmology, Vol 2017 (2017)

Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a coho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c222108bbc162f123a8b58cd3d447e31
http://europepmc.org/articles/PMC5516747