Zobrazeno 1 - 10
of 145
pro vyhledávání: '"Zulian, Alessandra"'
Autor:
Abbonante, Vittorio, Gruppi, Cristian, Battiston, Monica *, Zulian, Alessandra *, Di Buduo, Christian Andrea *, Chrisam, Martina, Sereni, Lucia, Laurent, Pierre-Alexandre, Semplicini, Claudio, Lombardi, Elisabetta, Mazzucato, Mario, Moccia, Francesco, Petronilli, Valeria, Villa, Anna, Bello, Luca, Pegoraro, Elena, Bernardi, Paolo, Braghetta, Paola, De Marco, Luigi, Bonaldo, Paolo, Balduini, Alessandra *
Publikováno v:
In Blood Advances 14 December 2021 5(23):5150-5163
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 74-77 (2018)
Large-caliber vessels are those with a diameter of 10 mm or more. Most aneurysms remain asymptomatic until they expand or rupture. Aortic aneurysms are of special interest for physicians and scientists because of their prevalence. Aortic aneurysms an
Externí odkaz:
https://doaj.org/article/27ea6535df33481b8220bea77cd27807
Autor:
Paolacci Stefano, Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Michelini Sandro, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 5-9 (2018)
Lymphatic malformations (LMs) show phenotypic variability, as well as clinical and genetic heterogeneity. Inheritance is autosomal dominant, recessive or X-linked and major genes involved in predisposition for LMs are continuously being discovered. T
Externí odkaz:
https://doaj.org/article/5b010121aea747a9aecf1914c9bafa42
Autor:
Maltese Paolo Enrico, Rakhmanov Yeltay, Zulian Alessandra, Notarangelo Angelantonio, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 22-25 (2018)
Cystic hygroma (CH) is characterized by abnormal accumulation of fluid in the region of the fetal neck and is a major anomaly associated with aneuploidy. Morphologically characterized by failure of the lymphatic system to communicate with the venous
Externí odkaz:
https://doaj.org/article/6cf6c8606a3a43c9adb4ba44dd574643
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:
Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 64-66 (2018)
Coarctation of the aorta (CoA) is an inherited narrowing of the proximal descending thoracic aorta. Histological features include localized medial thickening and infolding with superimposed neointimal tissue. CoA is diagnosed by detection of a murmur
Externí odkaz:
https://doaj.org/article/7f247c98e5194b378292b73cfa148b06
Autor:
Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 45-47 (2018)
Atrial septal defect (ASD) is a congenital heart defect characterized by an opening in the atrial septum. About 1/3 of patients with Noonan syndrome caused by mutation in the PTPN11 gene have ASD. The prevalence of ASD is estimated at 100 per 100,000
Externí odkaz:
https://doaj.org/article/afffc4745ce7430cb66e3a26a4b26b9a
Autor:
Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Paolacci Stefano, Beccari Tommaso, Dundar Munis, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 61-63 (2018)
Aortic valve stenosis (AVS) is a congenital aortic defect in which the aortic lumen narrows due to thickening or calcification of the aortic valve without obstructing left ventricular outflow. Depending on the site of obstruction, AVS is classified a
Externí odkaz:
https://doaj.org/article/a47633b633a54673acf6ae02b065ed03
Autor:
Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 11-13 (2017)
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for achromatopsia. The disease has autosomal recessive inheritance, a prevalence of 1/30000-1/50000, and is caused by mutations
Externí odkaz:
https://doaj.org/article/7b2b18bcfe8d4c3094f934bfc3657437
Autor:
Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Viola Francesco, Garoli Elena, Colombo Leonardo, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 1, Iss s1, Pp 26-28 (2017)
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder associated with variations in the CHM gene. The overal
Externí odkaz:
https://doaj.org/article/cff9836bf1cf4b53a7c0bc100c4b09dd