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Results: 1-15 |
Results: 15
Microchip module for blood sample preparation and nucleic acid amplification reactions
Authors: Yuen, PK Kricka, LJ Fortina, P Panaro, NJ Sakazume, T Wilding, P
Citation: Pk. Yuen et al., Microchip module for blood sample preparation and nucleic acid amplification reactions, GENOME RES, 11(3), 2001, pp. 405-412
Microarray technology and applications: An all-language literature survey including books and patents
Authors: Kricka, LJ Fortina, P
Citation: Lj. Kricka et P. Fortina, Microarray technology and applications: An all-language literature survey including books and patents, CLIN CHEM, 47(8), 2001, pp. 1479-1482
A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan (TM)technology
Authors: Restagno, G Gomez, AM Sbaiz, L De Gobbi, M Roetto, A Bertino, E Fabris, C Fiorucci, GC Fortina, P Camaschella, C
Citation: G. Restagno et al., A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan (TM)technology, GENET TEST, 4(2), 2000, pp. 177-181
Combined segregation and linkage analysis of inflammatory bowel disease inthe IBD1 region using severity to characterise Crohn's disease and ulcerative colitis
Authors: Forabosco, P Collins, A Latiano, A Annese, V Clementi, M Andriulli, A Fortina, P Devoto, M Morton, NE
Citation: P. Forabosco et al., Combined segregation and linkage analysis of inflammatory bowel disease inthe IBD1 region using severity to characterise Crohn's disease and ulcerative colitis, EUR J HUM G, 8(11), 2000, pp. 846-852
Simple two-color array-based approach for mutation detection
Authors: Fortina, P Delgrosso, K Sakazume, T Santacroce, R Moutereau, S Su, HJ Graves, D McKenzie, S Surrey, S
Citation: P. Fortina et al., Simple two-color array-based approach for mutation detection, EUR J HUM G, 8(11), 2000, pp. 884-894
High carrier frequency of the 35delG deafness mutation in European populations
Authors: Gasparini, P Rabionet, R Barbujani, G Melchionda, S Petersen, M Brondum-Nielsen, K Metspalu, A Oitmaa, E Pisano, M Fortina, P Zelante, L Estivill, X
Citation: P. Gasparini et al., High carrier frequency of the 35delG deafness mutation in European populations, EUR J HUM G, 8(1), 2000, pp. 19-23
In the presence of other inherited or acquired high-risk situations, the FV Cambridge mutation may be an additional thrombophilic risk factor, through its effect on APC sensitivity
Authors: Santacroce, R Bossone, A Brancaccio, V Fortina, P Margaglione, M
Citation: R. Santacroce et al., In the presence of other inherited or acquired high-risk situations, the FV Cambridge mutation may be an additional thrombophilic risk factor, through its effect on APC sensitivity, THROMB HAEM, 83(6), 2000, pp. 963-964
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting
Authors: Ming, JE Blagowidow, N Knoll, JHM Rollings, L Fortina, P McDonald-McGinn, DM Spinner, NB Zackai, EH
Citation: Je. Ming et al., Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting, AM J MED G, 92(1), 2000, pp. 19-24
Evaluation of DNA fragment sizing and quantification by the Agilent 2100 Bioanalyzer
Authors: Panaro, NJ Yuen, PK Sakazume, T Fortina, P Kricka, LJ Wilding, P
Citation: Nj. Panaro et al., Evaluation of DNA fragment sizing and quantification by the Agilent 2100 Bioanalyzer, CLIN CHEM, 46(11), 2000, pp. 1851-1853
A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing
Authors: Margaglione, M Santacroce, R Colaizzo, D Seripa, D Vecchione, G Lupone, MR De Lucia, D Fortina, P Grandone, E Perricone, C Di Minno, G
Citation: M. Margaglione et al., A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing, BLOOD, 96(7), 2000, pp. 2501-2505
Genetic polymorphisms in the mitochondrial genome
Authors: Berry, GT Fortina, P
Citation: Gt. Berry et P. Fortina, Genetic polymorphisms in the mitochondrial genome, GENETIC POLYMORPHISMS AND SUSCEPTIBILITY TO DISEASE, 2000, pp. 207-229
Vestibular and hearing loss in genetic and metabolic disorders
Authors: Gasparini, P Estivill, X Fortina, P
Citation: P. Gasparini et al., Vestibular and hearing loss in genetic and metabolic disorders, CURR OP NEU, 12(1), 1999, pp. 35-39
Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus - A GISC study
Authors: Annese, V Latiano, A Bovio, P Forabosco, P Piepoli, A Lombardi, G Andreoli, A Astegiano, M Gionchetti, P Riegler, G Sturniolo, GC Clementi, M Rappaport, E Fortina, P Devoto, M Gasparini, P Andriulli, A
Citation: V. Annese et al., Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus - A GISC study, EUR J HUM G, 7(5), 1999, pp. 567-573
Analysis of 31 CFTR mutations by polymerase chain reaction oligonucleotideligation assay in a pilot screening of 4476 newborns for cystic fibrosis
Authors: Gasparini, P Arbustini, E Restagno, G Zelante, L Stanziale, P Gatta, L Sbaiz, L Sedita, AM Banchieri, N Sapone, L Fiorucci, GC Brinson, E Shulse, E Rappaport, E Fortina, P
Citation: P. Gasparini et al., Analysis of 31 CFTR mutations by polymerase chain reaction oligonucleotideligation assay in a pilot screening of 4476 newborns for cystic fibrosis, J MED SCREE, 6(2), 1999, pp. 67-69
System for preparing microhybridization arrays on glass slides
Authors: Graves, DJ Su, HJ McKenzie, SE Surrey, S Fortina, P
Citation: Dj. Graves et al., System for preparing microhybridization arrays on glass slides, ANALYT CHEM, 70(23), 1998, pp. 5085-5092
Risultati: 1-15 |