Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Alice Bruson"'
Autor:
Francesco Schettini, Silvia Paola Corona, Fabiola Giudici, Carla Strina, Marianna Sirico, Ottavia Bernocchi, Manuela Milani, Nicoletta Ziglioli, Sergio Aguggini, Carlo Azzini, Giuseppina Barbieri, Valeria Cervoni, Maria Rosa Cappelletti, Alfredo Molteni, Maria Chiara Lazzari, Giuseppina Ferrero, Marco Ungari, Elena Marasco, Alice Bruson, Luciano Xumerle, Elisa Zago, Davide Cerra, Marco Loddo, Gareth H. Williams, Ida Paris, Giovanni Scambia, Daniele Generali
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
IntroductionOlaparib is effective in metastatic triple negative breast cancer (TNBC) carrying germline mutations in DNA damage repair (DDR) genes BRCA1/2 (gBRCA-mut). The OLTRE window-of-opportunity trial preliminarily investigated potential patholog
Externí odkaz:
https://doaj.org/article/63788280c6b64a3b8d56a89d2a4c7a48
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
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)
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://doaj.org/article/5a40854b9950463c9143105ae0b93438
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 78-82 (2018)
Stroke is defined as a focal or at times global neurological impairment of sudden onset and presumed vascular origin. 85% of strokes are due to cerebral ischemia and the other 15% to primary intracerebral hemorrhage. Ischemic stroke (IS) is character
Autor:
Fabiana D’Esposito, Alice Bruson, Andi Abeshi, Matteo Bertelli, Tommaso Beccari, Munis Dundar
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 92-95 (2017)
We reviewed the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for non syndromic retinitis pigmentosa (NSRP). NSRP is determined by variations in the ABCA4, AGBL5, ARL2BP, ARL6, BBS2, BEST1,
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 19-21 (2018)
Emberger Syndrome (ES) is a very rare genetic disorder associated with primary lymphedema, myelodysplasia and immunodeficiency. The syndrome has autosomal dominant inheritance with incomplete penetrance. Sporadic cases caused by de novo germinal muta
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 10-12 (2018)
Variants affecting the function of genes in the RAS–mitogen-activated protein kinase (MAPK) signal transduction pathway have been identified as responsible for a group of developmental syndromes known as RASopathies. Noonan (NS) and cardiofaciocuta
Autor:
Yeltay Rakhmanov, Tommaso Beccari, Munis Dundar, Alice Bruson, Matteo Bertelli, Paolo Enrico Maltese
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 55-57 (2018)
Ebstein anomaly (EA) is a rare congenital tricuspid valve malformation, characterized by downward displacement of the septal leaflet and an atrialized right ventricle. About 80% of cases of EA are non-syndromic; in the other 20%, the anomaly is assoc
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 16-18 (2018)
Hennekam Syndrome (HS) is a combination of congenital lymphatic malformation, lymphangiectasia and other disorders. It is a very rare disorder with autosomal recessive inheritance. We developed the test protocol “Hennekam Syndrome” on the basis o
Autor:
Raul Mattassi, Elena Manara, Alice Bruson, Byung-Boong Lee, Sandro Michelini, Stefano Paolacci, Alessandra Zulian, Matteo Bertelli, Bruno Amato
INTRODUCTION Vascular anomalies encompass an extremely heterogeneous group of congenital abnormalities of the vascular system. They include vascular tumors and malformations and have a prevalence of 4.5%. Vascular anomalies are frequently sporadic an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3819593b54eb64c0c39d3606228cb53
http://hdl.handle.net/11588/781514
http://hdl.handle.net/11588/781514