Zobrazeno 1 - 10
of 383
pro vyhledávání: '"A, Bruson"'
Akademický článek
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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:
Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Beccari Tommaso, Dundar Munis, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 67-70 (2018)
Bicuspid aortic valve (BAV) is a congenital defect in which the aortic valve has two rather than three leaflets. In many patients valve function may be normal but valve decompensation may occur due to other associated congenital abnormalities and sec
Externí odkaz:
https://doaj.org/article/3c46e29924f4401ba28d3b5712624ade
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.
Externí odkaz:
https://doaj.org/article/ddbe3c46b1084ceb8b7079ddeeb858e8
Autor:
Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo
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,
Externí odkaz:
https://doaj.org/article/86077fa567bf4f8285d3712dd3dd390b
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Castori Marco, Beccari Tommaso, Dundar Munis, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 42-44 (2018)
Ehlers-Danlos syndrome (EDS) is an umbrella term for various inherited connective tissue disorders associated with mutations in genes involved in extracellular matrix formation. “The 2017 International Classification of Ehlers-Danlos Syndromes and
Externí odkaz:
https://doaj.org/article/7d69c877488a4bbaae144a31a60debeb
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
Externí odkaz:
https://doaj.org/article/7eed49e8c5704678900e4152d208b08b
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
Externí odkaz:
https://doaj.org/article/d34b240a157a46ae9c165c8cfc01cb7b
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
Externí odkaz:
https://doaj.org/article/99947a3b00c84cbcb250c5d8af4d3c82