PEPE, GUGLIELMINA

PEPE, GUGLIELMINA  

Medicina Sperimentale e Clinica  

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Titolo Data di pubblicazione Autore(i) File
[Paradigm shifts in aortic pathology: clinical and therapeutic implications. Biology and pathology of the aortic wall]. 2013 d'Amati G; Leone O; Nistri S; Roghi A; Angelini A; Basso C; Biagini E; Colombo E; Mele D; Pepe G; Rapezzi C; Thiene G.
[Paradigm shifts in aortic pathology: clinical and therapeutic implications. Clinical imaging in chronic and acute aortic syndromes. The aorta as a cause of cardiac disease] 2014 Nistri, S; Roghi, A; Mele, D; Biagini, E; Chiodi, E; Colombo, E; D'Amati, G; Leone, O; Angelini, A; Basso, C; Pepe, G; Rapezzi, C; Thiene, G.
A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection 2016 Giusti, Betti; Nistri, Stefano; Sticchi, Elena; De Cario, Rosina; Abbate, Rosanna; Gensini, Gian Franco; Pepe, Guglielmina
A gene conversion hotspot in the human growth hormone (GH1) gene promoter 2008 A.Wolf; DS.Millar; A.Caliebe; M.Horan; V.Newsway; D.Kumpf; K.Steinmann; IS.Chee; YH.Lee; A.Mutirangura; G.Pepe; O.Rickards; J.Schmidtke; W.Schempp; N.Chuzhanova; H.Kehrer-Sawatzki; M.Krawczak; DN.Cooper.
A group of patients with Marfan's syndrome, who have finger and toe contractures, displays tendons' alterations upon an ultrasound examination: are these features common among classical Marfan patients? 2016 Melchiorre, Daniela; Pratelli, Elisa; Torricelli, Elena; Sofi, Francesco; Abbate, Rosanna; Matucci-Cerinic, Marco; Gensini, Gianfranco; Pepe, Guglielmina
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the a1 (VI) collagen chain in an Italian family affected by Bethlem myopathy. 1999 PEPE G; GIUSTI B; BERTINI E; BRUNELLI T; SAITTA B; COMEGLIO P; BOLOGNESE A; MERLINI L; FEDERICI G; R. ABBATE; CHU ML
A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta. 1993 G.PEPE
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. 2005 L.Lucarini; B.Giusti; RZ.Zhang; TC.Pan; C.Jimenez-Mallebrera; E.Mercuri; F.Muntoni; G.Pepe; ML.Chu
A major involvment of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene. 1997 G.Pepe; B.Giusti; M.Attanasio; P.Comeglio; M.C.Porciani; L.Giurlani; GF.Montesi; GC.Calamai; M.Vaccari; S.Favilli; R.Abbate; GF.Gensini
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. 1999 G.PEPE; E.BERTINI; B.GIUSTI; T.BRUNELLI; P.COMEGLIO; B.SAITTA; L.MERLINI; ML.CHU; G.FEDERICI; R.ABBATE
A quando un ruolo per la genetica nella pratica cardiologica? 1997 GF.GENSINI; G.PEPE
A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian Marfan patients 2010 L. Evangelisti; L. Lucarini; M. Attanasio; I. Lapini; B. Giusti; M.C. Porciani; G.F. Gensini; R. Abbate; G. Pepe
ACE and TBFGR1 genes interact in influencing the susceptibility to abdominal aortic aneurysm 2009 LUCARINI L; STICCHI E; SOFI F; PRATESI G; PRATESI C; PULLI R; GENSINI G.F; ABBATE R; PEPE G; FATINI C
Acquired activated protein C resistance in postmenopausal women is dependent on factor VIII:c levels. 1999 Marcucci R; Abbate R; Fedi S; Gori AM; Brunelli T; Bruni V; Bucciantini S; Micheli S; Pepe G; Prisco D; Gensini GF.
Activated protein C resistance is a risk factor for central retinal vein occlusion 2000 R.Marcucci; L.Bertini; A.Alessandrello Liotta; A.Rogolino; E.Antonucci; I.Ilari; G.Pepe; D.Prisco
AGT and ACE genes influence classic mitral valve prolapse predisposition in Marfan patients 2008 C.Fatini; M.Attanasio; C.Porciani; E.Sticchi; L.Padeletti; I.Lapini; R.Abbate; GF.Gensini; G.Pepe
Allele and haplotype frequency distribution of the EcoRI, RsaI, and MspI COL1A2 RFLPs among various human populations. 1995 G.Pepe; O.Rickards; C.Jodice; G.Modiano
Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency. 2005 S.PETRINI; A.TESSA; WB.STALLCUP; P.SABATELLI; M.PESCATORI; B.GIUSTI; R.CARROZZO; M.VERARDO; N.BERGAMIN; M.COLUMBARO; C.BERNARDINI; L.MERLINI; G.PEPE; P.BONALDO; E.BERTINI
An expanding role of biomarkers in acute aortic syndromes. 2006 G.PEPE; B.GIUSTI; M.YACOUB
ANALYSIS OF THE 3' END OF THE HUMAN PRO-ALPHA 2(I) COLLAGEN GENE: UTILIZATION OF MULTIPLE POLYADENILATION SITES IN CULTURED FIBROBLASTS. 1983 JC.MYERS; LA.DICKSON; WJ.DE WET; MP.BERNARD; M-L.CHU; M. DI LIBERTO; G.PEPE; FO.SANGIORGI; F.RAMIREZ.