Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Abeshi Andi"'
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s2, Pp 115-118 (2017)
MAGI is concerned with research and diagnosis of rare genetic diseases. It has been operating since 2006 in Italy and abroad. Today it has three centers in Italy, including a medical genetics laboratory specialized in next generation sequencing in Bo
Externí odkaz:
https://doaj.org/article/6c9f42ac5a4a41fab9645e0f0be57772
Autor:
Abeshi Andi, Precone Vincenza, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 1-5 (2017)
Inherited eye diseases are a group of conditions with genetic and phenotypic heterogeneity. Advances in ocular genetic research have provided insights into the genetic basis of many eye diseases. Genetic and technological progress is improving the ma
Externí odkaz:
https://doaj.org/article/4c1ea320de0e4f35b1a15254f31881cb
Autor:
Abeshi Andi, Fanelli Francesca, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 70-73 (2017)
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Mendelian glaucomas, a large heterogeneous group of inherited disorders, classified according to age of onset as congenital
Externí odkaz:
https://doaj.org/article/264467c0d6b54fe4a0eab65e3441b576
Autor:
Abeshi Andi, Precone Vincenza, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 6-10 (2017)
The main constituents of the genus Sideritis are various terpenoids, sterols, coumarins, flavonoid aglycones and glycosides. Sideritis species have been traditionally used as infusions or flavoring agents and in medicine as anti-inflammatory, antiulc
Externí odkaz:
https://doaj.org/article/e5b97037d1c1423eb872e87a639f118c
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, Viola Francesco, Colombo Leonardo, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 41-44 (2017)
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for corneal dystrophies and other Mendelian corneal diseases (CDs). CDs are mostly inherited in an autosomal dominant manner (a
Externí odkaz:
https://doaj.org/article/c0c450c6ec814b7496723fd3bc9af964
Autor:
Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 66-69 (2017)
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Mendelian cataract (MC). MC is caused by variations in the AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4,
Externí odkaz:
https://doaj.org/article/c087db2aae9c4c9ba3866749fbed403b
Autor:
Manara Elena, Maltese Paolo E., Guerri Giulia, Marceddu Giuseppe, Capodicasa Natale, Abeshi Andi, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s2, Pp 128-130 (2017)
Molecular diagnosis relieves patients of uncertainty, aids informed decisions about health and reproductive choices, and helps them join clinical trials or access available therapy. Genetic testing by next generation sequencing (NGS) is the suggested
Externí odkaz:
https://doaj.org/article/fd19a9385ea946edbd8f2d3cc3f15945
Autor:
Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Viola Francesco, Colombo Leonardo, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 17-19 (2017)
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Best vitelliform macular dystrophy (BVMD). BVMD is mostly inherited in an autosomal dominant manner (autosomal recessive tr
Externí odkaz:
https://doaj.org/article/06e26763b966402ca0c2807d5f2d8e98
Autor:
Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 29-31 (2017)
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular coloboma (COI). COI is inherited in an autosomal dominant manner associated with variations in the PAX6, ABCB6 and FZ
Externí odkaz:
https://doaj.org/article/32df397455154aca89c875957b581dfa