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Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome 1-gen-2000 Belloni, E.; Martucciello, G.; Verderio, D.; Ponti, E.; Seri, M.; Jasonniv, ; Torre, M.; Ferrari, Maurizio; Tsui, L. C.; Scherer, S.
Double-Gradient Denaturing Gradient Gel Electrophoresis Assay for Identification of L-Ferritin Iron-responsive Element Mutations Responsible for Hereditary Hyperferritinemia-Cataract Syndrome: Identification of the New Mutation C14G 1-gen-2001 Cremonesi, L; Fumagalli, A; Soriani, N; Ferrari, Maurizio; Levi, SONIA MARIA ROSA; Belloli, S; Ruggeri, G; Arosio, P.
Asymptomatic cores and paracristalline mitochondrial inclusions in CADASIL 1-gen-2002 Malandrini, A; Albani, F; Palmeri, S; Fattapposta, F; Gambelli, S; Berti, G; Bracco, A; Tammaro, A; Calzavara, S; Villanova, M; Ferrari, Maurizio; Rossi, A; Carrera, P.
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3) 1-gen-2002 Cazzola, M; Cremonesi, L; Papaioannou, M; Soriani, N; Kioumi, A; Charalambidou, A; Paroni, R; Romtsou, K; Levi, SONIA MARIA ROSA; Ferrari, Maurizio; Arosio, P; Christakis, J.
Analysis of clinically relevant single nucleotide polymorphisms by use of microelectronic array technology 1-gen-2002 Santacroce, R; Ratti, A; Caroli, F; Foglieni, B; Cremonesi, L; Ferraris, A; Margaglione, M; Seri, M; Ravazzolo, R; Dallapiccola, B; Rappaport, E; Pollack, E; Surrey, S; Mcentire, Je; Ferrari, Maurizio; Fortina, P.
Early visual function impairment in CADASIL 1-gen-2003 Parisi, V; Pierelli, F; Fattapposta, F; Parisi, L; Restuccia, R; Malandrini, A; Ferrari, Maurizio; Carrera, P.
Denaturing HPLC Analysis of DNA Deletions and Insertions 1-gen-2003 Cremonesi, L; Stenirri, S; Fermo, I; Paroni, R; Ferrari, Maurizio; Cazzola, M; Arosio, P.
Scanning mutations of the 5'UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: identification of new mutations 1-gen-2003 Cremonesi, L; Paroni, R; Foglieni, B; Galbiati, S; Fermo, I; Soriani, N; Belloli, S; Ruggeri, G; Biasotto, G; Cazzola, M; Ferrari, F; Ferrari, Maurizio; Arosio, P.
Identification of two novel mutations in the 5 ' untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning 1-gen-2003 Cremonesi, L; Foglieni, B; Fermo, I; Cozzi, A; Paroni, R; Ruggeri, G; Belloli, S; Levi, SONIA MARIA ROSA; Fargion, S; Ferrari, Maurizio; Arosio, P.
Feasibility Study for a Microchip-Based Approach for Noninvasive Prenatal Diagnosis of Genetic Diseases 1-gen-2004 Cremonesi, L; Galbiati, S; Foglieni, B; Smid, M; Gambini, D; Ferrari, A; Viora, E; Campogrande, M; Pagnio, M; Travi, M; Piga, A; Restagno, G; Ferrari, Maurizio
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no hematological or neurological symptoms 1-gen-2004 Cremonesi, L; Cozzi, A; Girelli, D; Ferrari, F; Fermo, I; Foglieni, B; Levi, S; Bozzini, C; Camparini, M; Ferrari, M; Arosio, P
Denaturing HPLC profoling of the ABCA4 gene for reliable detection of allelic variations. 1-gen-2004 Stenirri S, 1. 4. 5.; Fermo, I; Battistella, S; Galbiati, S; Soriani, N; Paroni, R; Manitto, Mp; Martina, E; Brancato, R; Allikmets, R; Ferrari, Maurizio; Cremonesi, L.
Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection 1-gen-2004 Foglieni, B; Cremonesi, L; Travi, M; Ravani, A; Giambona, A; Rosatelli, Mc; Perra, C; Fortina, P; Ferrari, Maurizio
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy 1-gen-2005 Benedetti, S; Bertini, E; Iannaccone, S; Angelini, C; Trisciani, M; Toniolo, D; Sferrazza, B; Carrera, P; Comi, Giancarlo; Ferrari, Maurizio; Quattrini, A; Previtali, Sc
Genetic and clinical heterogeneity of ferroportin disease 1-gen-2005 Cremonesi, L; Forni, Gl; Soriani, N; Lamagna, M; Fermo, I; Daraio, F; Galli, A; Pietra, D; Malcovati, L; Ferrari, Maurizio; Camaschella, Clara; Cazzola, M.
Fetal DNA detection in maternal plasma throughout gestation 1-gen-2005 Galbiati, S; Smid, M; Gambini, D; Ferrari, A; Restagno, G; Viora, E; Campogrande, M; Bastonero, S; Pagliano, M; Calza, S; Ferrari, Maurizio; Cremonesi, L.
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene 1-gen-2005 Damico, A; S., Benedetti; S., Petrini; N., Sambuughin; R., Boldrini; I., Menditto; Ferrari, Maurizio; M., Verardo; L., Goldfarb; E., Bertin
Co-segregation of LMNA and PMP22 gene mutations in the same family. 1-gen-2005 Pegoraro, E; Gavassini, Bf; Benedetti, S; Menditto, I; Zara, G; Padoan, R; Mostacciuolo, Ml; Ferrari, Maurizio; Angelini, C.
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination 1-gen-2005 Percesepe, A; Ferrari, Maurizio; Coviello, D; Zanussi, M; Castagni, M; Neri, I; Travi, M; Forabosco, A; Tedeschi, S.
Molecular Diagnostics by Microelectroic Microchips. 1-gen-2005 Ferrari, Maurizio; Cremonesi, L; Bonini, Pa; Stenirri, S; Foglieni, B.
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