Zobrazeno 1 - 10
of 282
pro vyhledávání: '"D'Esposito Fabiana"'
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
Autor:
Abeshi Andi, Fanelli Francesca, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 14-16 (2017)
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Bardet- Biedl syndrome (BBS). The disease has autosomal recessive inheritance, a prevalence varying from one in 13 500 to on
Externí odkaz:
https://doaj.org/article/984e2eba30c74a47a5ff66008c4aeea8
Autor:
Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 89-91 (2017)
We reviewed the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Refsum disease. The disease has autosomal recessive inheritance, unknown prevalence, and is caused by variations in PEX7 an
Externí odkaz:
https://doaj.org/article/26008211dfee4dcab4cfc7f7b9478f39
Autor:
Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 111-113 (2017)
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for X-linked juvenile retinoschisis (XJR). The disease has X-linked inheritance, a prevalence that varies from one in 5000 to on
Externí odkaz:
https://doaj.org/article/6636152c0970467b82d7c99098dccdda
Autor:
Abeshi Andi, Coppola Pamela, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 96-98 (2017)
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for retinitis punctata albescens/fundus albipunctatus (RPA/FA). RPA and FA are reported to have autosomal dominant or autosomal
Externí odkaz:
https://doaj.org/article/5df5a516701148629910f25eab0e3f37
Autor:
Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 105-107 (2017)
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Stargardt macular dystrophy (STGD). STGD is mostly inherited in an autosomal recessive manner and rarely in an autosomal dom
Externí odkaz:
https://doaj.org/article/9b0d0246dcc042e8bc4f26192656eb5e
Autor:
Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 48-50 (2017)
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for enhanced S-cone syndrome (ESCS). The disease has autosomal recessive inheritance, a prevalence of less than one per million,
Externí odkaz:
https://doaj.org/article/b87d2a840af24903934294a913210393
Autor:
Conconi, Annarita, Chiappella, Annalisa, Ferreri, Andrés J. M., Stathis, Anastasios, Botto, Barbara, Sassone, Marianna, Gaidano, Gianluca, Balzarotti, Monica, Merli, Francesco, Tucci, Alessandra, Vanazzi, Anna, Tani, Monica, Bruna, Riccardo, Orsucci, Lorella, Cabras, Maria Giuseppina, Celli, Melania, Annibali, Ombretta, Liberati, Anna Marina, Zanni, Manuela, Ghiggi, Chiara, Pisani, Francesco, Pinotti, Graziella, Dore, Fausto, Esposito, Fabiana, Pirosa, Maria Cristina, Cesaretti, Marina, Bonomini, Luisella, Vitolo, Umberto, Zucca, Emanuele
Publikováno v:
In Blood Advances 26 March 2024 8(6):1541-1549
Autor:
Esposito, Fabiana, Sinquin, Corinne, Colliec-Jouault, Sylvia, Cuenot, Stéphane, Pugnière, Martine, Ngo, Giang, Traboni, Serena, Zykwinska, Agata, Bedini, Emiliano
Publikováno v:
In International Journal of Biological Macromolecules March 2024 260 Part 1
Publikováno v:
In Carbohydrate Polymers 15 January 2024 324