Sfoglia per Autore
Human alpha-thalassemia syndromes: detection of molecular defects.
1996 A. C., Kattamis; C., Camaschella; P., Sivera; S., Surrey; Fortina, Paolo
Microchip-based Devices for Molecular Diagnosis of Genetic Diseases.
1996 J., Cheng; Fortina, Paolo; S., Surrey; L. J., Kricka; P., Wilding
Sensitivity, reproducibility, and accuracy in short tandem repeat genotyping using capillary array electrophoresis.
1996 E. S., Mansfield; M., Vainer; S., Enad; D. L., Barker; D., Harris; E., Rappaport; Fortina, Paolo
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
1997 L., Zelante; P., Gasparini; X., Estivill; S., Melchionda; L., D'Agruma; N., Govea; M., Mila; Monica, Md; J., Lutfi; M., Shohat; E., Mansfield; K., Delgrosso; E., Rappaport; S., Surrey; Fortina, Paolo
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.
1997 Gasparini, P; Estivill, X; Volpini, V; Totaro, A; Castellvi Bel, S; Govea, N; Mila, M; Della Monica, M; Ventruto, V; De Benedetto, M; Stanziale, P; Zelante, L; Mansfield, Es; Sandkuijl, L; Surrey, S; Fortina, Paolo
Hb Osler [beta 145(HC2)Tyr-->Asp] results from posttranslational modification.
1997 A. C., Kattamis; K. M., Kelly; K., Ohene Frempong; M. P., Reilly; M., Keller; R., Cubeddu; K., Adachi; S., Surrey; Fortina, Paolo
Diagnosis of Duchenne/Becker muscular dystrophy and quantitative identification of carrier status by use of entangled solution capillary electrophoresis.
1997 Fortina, Paolo; J., Cheng; M. A., Shoffner; S., Surrey; W. M., Hitchcock; L. J., Kricka; P., Wilding
alpha-thalassemia caused by a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene including the first nucleotide of the poly A signal sequence.
1997 H., Tamary; G., Klinger; L., Shalmon; D., Attias; Fortina, Paolo; M., Kobayashi; S., Surrey; R., Zaizov
The presurgical management with erythrocytapheresis of a patient with a high-oxygen-affinity, unstable Hb variant (Hb Bryn Mawr).
1997 P. J., Larson; D. F., Friedman; M. P., Reilly; A. C., Kattamis; T., Asakura; Fortina, Paolo; A. R., Cohen; H. C., Kim; C. S., Manno
Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous beta-thalassemia.
1997 C., Camaschella; A. C., Kattamis; D., Petroni; A., Roetto; P., Sivera; L., Sbaiz; A., Cohen; K., Ohene Frempong; P., Trifillis; S., Surrey; Fortina, Paolo
Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis.
1997 E. S., Mansfield; M., Vainer; D. W., Harris; P., Gasparini; X., Estivill; S., Surrey; Fortina, Paolo
Connexin-26 mutations in sporadic and inherited sensorineural deafness.
1998 Estivill, X; Fortina, Paolo; Surrey, S; Rabionet, R; Melchionda, S; D'Agruma, L; Mansfield, E; Rappaport, E; Govea, N; Milà, M; Zelante, L; Gasparini, P.
Integrated cell isolation and polymerase chain reaction analysis using silicon microfilter chambers.
1998 Peter, Wilding; Larry J., Kricka; Jing, Cheng; Gia, Hvichia; Mann A., Shoffner; Fortina, Paolo
Applications of emerging technologies to the study of human genetics.
1998 Fortina, Paolo
Parallel molecular genetic analysis.
1998 Steven E., Mckenzie; Elaine, Mansfield; Eric, Rappaport; Saul, Surrey; Fortina, Paolo
System for preparing microhybridization arrays on glass slides.
1998 D. J., Graves; H. J., Su; S. E., Mckenzie; S., Surrey; Fortina, Paolo
Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy.
1998 Eloisa, Arbustini; Marta, Diegoli; Roberta, Fasani; Maurizia, Grasso; Patrizia, Morbini; Nadia, Banchieri; Ornella, Bellini; Barbara Dal, Bello; Andrea, Pilotto; Giulia, Magrini; Carlo, Campana; Fortina, Paolo; Antonello, Gavazzi; Jagat, Narula; Mario, Vigano
Degenerate oligonucleotide primed-polymerase chain reaction and capillary electrophoretic analysis of human DNA on microchip-based devices.
1998 Cheng, J; Waters, Lc; Fortina, Paolo; Hvichia, G; Jacobson, Sc; Ramsey, Jm; Kricka, Lj; Wilding, P.
Absence of the fragile X CGG trinucleotide repeat expansion in girls diagnosed with a pervasive developmental disorder.
1998 G. A., Meyer; N. J., Blum; W., Hitchcock; Fortina, Paolo
Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus--a GISC study.
1999 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, Paolo; Devoto, Marcella; Gasparini, P; Andriulli, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Human alpha-thalassemia syndromes: detection of molecular defects. | 1996 | A. C., Kattamis; C., Camaschella; P., Sivera; S., Surrey; Fortina, Paolo | |
| Microchip-based Devices for Molecular Diagnosis of Genetic Diseases. | 1996 | J., Cheng; Fortina, Paolo; S., Surrey; L. J., Kricka; P., Wilding | |
| Sensitivity, reproducibility, and accuracy in short tandem repeat genotyping using capillary array electrophoresis. | 1996 | E. S., Mansfield; M., Vainer; S., Enad; D. L., Barker; D., Harris; E., Rappaport; Fortina, Paolo | |
| Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. | 1997 | L., Zelante; P., Gasparini; X., Estivill; S., Melchionda; L., D'Agruma; N., Govea; M., Mila; Monica, Md; J., Lutfi; M., Shohat; E., Mansfield; K., Delgrosso; E., Rappaport; S., Surrey; Fortina, Paolo | |
| Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families. | 1997 | Gasparini, P; Estivill, X; Volpini, V; Totaro, A; Castellvi Bel, S; Govea, N; Mila, M; Della Monica, M; Ventruto, V; De Benedetto, M; Stanziale, P; Zelante, L; Mansfield, Es; Sandkuijl, L; Surrey, S; Fortina, Paolo | |
| Hb Osler [beta 145(HC2)Tyr-->Asp] results from posttranslational modification. | 1997 | A. C., Kattamis; K. M., Kelly; K., Ohene Frempong; M. P., Reilly; M., Keller; R., Cubeddu; K., Adachi; S., Surrey; Fortina, Paolo | |
| Diagnosis of Duchenne/Becker muscular dystrophy and quantitative identification of carrier status by use of entangled solution capillary electrophoresis. | 1997 | Fortina, Paolo; J., Cheng; M. A., Shoffner; S., Surrey; W. M., Hitchcock; L. J., Kricka; P., Wilding | |
| alpha-thalassemia caused by a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene including the first nucleotide of the poly A signal sequence. | 1997 | H., Tamary; G., Klinger; L., Shalmon; D., Attias; Fortina, Paolo; M., Kobayashi; S., Surrey; R., Zaizov | |
| The presurgical management with erythrocytapheresis of a patient with a high-oxygen-affinity, unstable Hb variant (Hb Bryn Mawr). | 1997 | P. J., Larson; D. F., Friedman; M. P., Reilly; A. C., Kattamis; T., Asakura; Fortina, Paolo; A. R., Cohen; H. C., Kim; C. S., Manno | |
| Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous beta-thalassemia. | 1997 | C., Camaschella; A. C., Kattamis; D., Petroni; A., Roetto; P., Sivera; L., Sbaiz; A., Cohen; K., Ohene Frempong; P., Trifillis; S., Surrey; Fortina, Paolo | |
| Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis. | 1997 | E. S., Mansfield; M., Vainer; D. W., Harris; P., Gasparini; X., Estivill; S., Surrey; Fortina, Paolo | |
| Connexin-26 mutations in sporadic and inherited sensorineural deafness. | 1998 | Estivill, X; Fortina, Paolo; Surrey, S; Rabionet, R; Melchionda, S; D'Agruma, L; Mansfield, E; Rappaport, E; Govea, N; Milà, M; Zelante, L; Gasparini, P. | |
| Integrated cell isolation and polymerase chain reaction analysis using silicon microfilter chambers. | 1998 | Peter, Wilding; Larry J., Kricka; Jing, Cheng; Gia, Hvichia; Mann A., Shoffner; Fortina, Paolo | |
| Applications of emerging technologies to the study of human genetics. | 1998 | Fortina, Paolo | |
| Parallel molecular genetic analysis. | 1998 | Steven E., Mckenzie; Elaine, Mansfield; Eric, Rappaport; Saul, Surrey; Fortina, Paolo | |
| System for preparing microhybridization arrays on glass slides. | 1998 | D. J., Graves; H. J., Su; S. E., Mckenzie; S., Surrey; Fortina, Paolo | |
| Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. | 1998 | Eloisa, Arbustini; Marta, Diegoli; Roberta, Fasani; Maurizia, Grasso; Patrizia, Morbini; Nadia, Banchieri; Ornella, Bellini; Barbara Dal, Bello; Andrea, Pilotto; Giulia, Magrini; Carlo, Campana; Fortina, Paolo; Antonello, Gavazzi; Jagat, Narula; Mario, Vigano | |
| Degenerate oligonucleotide primed-polymerase chain reaction and capillary electrophoretic analysis of human DNA on microchip-based devices. | 1998 | Cheng, J; Waters, Lc; Fortina, Paolo; Hvichia, G; Jacobson, Sc; Ramsey, Jm; Kricka, Lj; Wilding, P. | |
| Absence of the fragile X CGG trinucleotide repeat expansion in girls diagnosed with a pervasive developmental disorder. | 1998 | G. A., Meyer; N. J., Blum; W., Hitchcock; Fortina, Paolo | |
| Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus--a GISC study. | 1999 | 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, Paolo; Devoto, Marcella; Gasparini, P; Andriulli, A. |
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