Sfoglia per Autore
Preliminary results on the frequency of the deltaF508 mutation in cystic fibrosis patients from the USSR.
1990-01-01 Ronchetto, P.; Devoto, M.; Puliti, Aldamaria; Romeo, G.; Sokolov, B.; Kalinin, V. N.; Vorsanova, S. G.; Krainiana, G. V.; Reznik, B. Y.
Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients. In L.-C. Tsui, G.Romeo, R.Greger, S.Gorini, Eds.: The identification of the CF gene: recent progress and new research strategies.
1991-01-01 Puliti, Aldamaria; TELLERIA ORRIOLS, J. J.; Ronchetto, P.; Fenu, L.; Devoto, M.; Romeo, G.; Kadasi, L.; Gez, J.; Ferak, V.
The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population.
1992-01-01 Kadasi, L; Gecz, J; Puliti, Aldamaria; Devoto, M; Ferak, V; Romeo, G; Kayserova, H; Kardosova, A; Hruskovic, I.
Total colonic aganglionosis associated with an interstitial deletion of the long arm of chromosome 10. Molecular characterization of the region and family studies
1992-01-01 Puliti, Aldamaria; Martucciello, Giuseppe; M., Lerone; Ae, Covone; Jasonni, Vincenzo; G., Romeo
Total colonic aganglionosis associated with an interstitial deletion of the long arm of chromosome 10.
1992-01-01 Martucciello, Giuseppe; Mp, Bicocchi; P., Dodero; M., Lerone; M., Silengo Cirillo; Puliti, Aldamaria; G., Gimelli; G., Romeo; Jasonni, Vincenzo
Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection.
1993-01-01 Puliti, Aldamaria; A. E., Covone; M. P., Bicocchi; A., Bolino; M., Lerone; Martucciello, Giuseppe; Jasonni, Vincenzo; G., Romeo
A gene for Hirshsprung disease maps to the proximal long arm of chromosome 10
1993-01-01 S., Lyonnet; A., Bolino; A., Pelet; L., ABEL L; C., Nihoulfekete; M. L., Briard; V., Moksiu; H., Kaariainen; Martucciello, Giuseppe; M., Lerone; Puliti, Aldamaria; Y., LUO WEISSENBACH J; Devoto, M; Munnich, A; Romeo, G.
Mapping and identification of a candidate gene for Hirschsprung disease:a review
1994-01-01 A., Bolino; M., Devoto; I., Ceccherini; Puliti, Aldamaria; B., Pasini; Bocciardi, Renata; V., Barone; L., Yin; Martucciello, Giuseppe; M., Lerone; G., Romeo
Induction of chromosomal aberrations and spindle disturbances in Chinese hamster epithelial liver cells in culture by pyrene and benzo[a]pyrene quinones.
1995-01-01 Sbrana, I.; Puliti, Aldamaria; Seidel, A.; Glatt, H.; Turchi, G.
A high resolution genetic map of mouse Chromosome 15 encompassing the Dominant megacolon (Dom) locus.
1995-01-01 Puliti, Aldamaria; Prehu, M. O.; SIMON CHAZOTTES, D.; Ferkdadji, L.; Peuchmaur, M.; Goossens, M.; Guénet, Jl
Neuronal defects in genotyped dominant megacolon (Dom) mouse embryos, a model for Hirschsprung disease.
1996-01-01 Puliti, Aldamaria; Poirier, V.; Goossens, M; Simonneau, M.
Assignment of the mouse Gdnfra, the homologue of a new human HSCR candidate gene, to the telomeric region of mouse Chromosome 19.
1997-01-01 Puliti, Aldamaria; Cinti, R.; Seri, M.; Ceccherini, I.; Romeo, G.
Sequence and characterization of the Ret proto-oncogene 5’ flanking region: analysis of retinoic acid responsiveness at the transcriptional level
1997-01-01 Patrone, G.; Puliti, Aldamaria; Bocciardi, Renata; Ravazzolo, Roberto; Romeo, G.
Structure-activity relationship in the induction of chromosomal aberrations and spindle disturbances in Chinese hamster epithelial liver cells by regioisomeric phenanthrene quinones.
1997-01-01 Turchi, G.; Glatt, H. R.; Seidel, A.; Puliti, Aldamaria; Sbrana, I.
Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease.
1997-01-01 Pingault, V.; Puliti, Aldamaria; Prehu, M. O.; Samadi, A.; Bondurand, N.; Goossens, M.
Mappatura e clonaggio di geni che causano malattie congenite frequenti ad ereditarietà complessa: il caso della malattia di Hirschsprung
1998-01-01 M., Seri; Puliti, Aldamaria; Bocciardi, Renata; G., Patrone; L., Yin; B., Pasini; A., Bolino; M., Lerone; M., Silengo; Martucciello, Giuseppe; I., Ceccherini; G., Romeo
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease.
1998-01-01 Herbarth, B.; Pingault, V.; Bondurand, N.; Kuhlbrodt, K.; HERMANS BORGMEYER, I.; Puliti, Aldamaria; Lemort, N.; Goossens, M.; Wegner, M.
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
1998-01-01 Pingault, V.; Bondurand, N.; Kuhlbrodt, K.; Goerich, D.; Prehu, M. O.; Puliti, Aldamaria; Legius, E.; Matthijs, G.; Amiel, J.; Lyonnet, S.; Ceccherini, I.; Romeo, G.
HOX11L1, a gene involved in the Peripheral Nervous System development, maps to human chromosome 2p12-p13.1 and mouse chromosome 6C3-D1.
1999-01-01 Puliti, Aldamaria; Cinti, R.; Betsos, N.; Romeo, G.; Ceccherini, I.
Cell line-specific transcription rates of the RET gene and identification of functional domains in its minimal promoter.
2000-01-01 Patrone, G.; Puppo, F.; Scaranari, M.; Griseri, P.; Cusano, R.; Romeo, G.; Ceccherini, I.; Puliti, Aldamaria; Ravazzolo, Roberto
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Preliminary results on the frequency of the deltaF508 mutation in cystic fibrosis patients from the USSR. | 1-gen-1990 | Ronchetto, P.; Devoto, M.; Puliti, Aldamaria; Romeo, G.; Sokolov, B.; Kalinin, V. N.; Vorsanova, S. G.; Krainiana, G. V.; Reznik, B. Y. | |
Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients. In L.-C. Tsui, G.Romeo, R.Greger, S.Gorini, Eds.: The identification of the CF gene: recent progress and new research strategies. | 1-gen-1991 | Puliti, Aldamaria; TELLERIA ORRIOLS, J. J.; Ronchetto, P.; Fenu, L.; Devoto, M.; Romeo, G.; Kadasi, L.; Gez, J.; Ferak, V. | |
The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population. | 1-gen-1992 | Kadasi, L; Gecz, J; Puliti, Aldamaria; Devoto, M; Ferak, V; Romeo, G; Kayserova, H; Kardosova, A; Hruskovic, I. | |
Total colonic aganglionosis associated with an interstitial deletion of the long arm of chromosome 10. Molecular characterization of the region and family studies | 1-gen-1992 | Puliti, Aldamaria; Martucciello, Giuseppe; M., Lerone; Ae, Covone; Jasonni, Vincenzo; G., Romeo | |
Total colonic aganglionosis associated with an interstitial deletion of the long arm of chromosome 10. | 1-gen-1992 | Martucciello, Giuseppe; Mp, Bicocchi; P., Dodero; M., Lerone; M., Silengo Cirillo; Puliti, Aldamaria; G., Gimelli; G., Romeo; Jasonni, Vincenzo | |
Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection. | 1-gen-1993 | Puliti, Aldamaria; A. E., Covone; M. P., Bicocchi; A., Bolino; M., Lerone; Martucciello, Giuseppe; Jasonni, Vincenzo; G., Romeo | |
A gene for Hirshsprung disease maps to the proximal long arm of chromosome 10 | 1-gen-1993 | S., Lyonnet; A., Bolino; A., Pelet; L., ABEL L; C., Nihoulfekete; M. L., Briard; V., Moksiu; H., Kaariainen; Martucciello, Giuseppe; M., Lerone; Puliti, Aldamaria; Y., LUO WEISSENBACH J; Devoto, M; Munnich, A; Romeo, G. | |
Mapping and identification of a candidate gene for Hirschsprung disease:a review | 1-gen-1994 | A., Bolino; M., Devoto; I., Ceccherini; Puliti, Aldamaria; B., Pasini; Bocciardi, Renata; V., Barone; L., Yin; Martucciello, Giuseppe; M., Lerone; G., Romeo | |
Induction of chromosomal aberrations and spindle disturbances in Chinese hamster epithelial liver cells in culture by pyrene and benzo[a]pyrene quinones. | 1-gen-1995 | Sbrana, I.; Puliti, Aldamaria; Seidel, A.; Glatt, H.; Turchi, G. | |
A high resolution genetic map of mouse Chromosome 15 encompassing the Dominant megacolon (Dom) locus. | 1-gen-1995 | Puliti, Aldamaria; Prehu, M. O.; SIMON CHAZOTTES, D.; Ferkdadji, L.; Peuchmaur, M.; Goossens, M.; Guénet, Jl | |
Neuronal defects in genotyped dominant megacolon (Dom) mouse embryos, a model for Hirschsprung disease. | 1-gen-1996 | Puliti, Aldamaria; Poirier, V.; Goossens, M; Simonneau, M. | |
Assignment of the mouse Gdnfra, the homologue of a new human HSCR candidate gene, to the telomeric region of mouse Chromosome 19. | 1-gen-1997 | Puliti, Aldamaria; Cinti, R.; Seri, M.; Ceccherini, I.; Romeo, G. | |
Sequence and characterization of the Ret proto-oncogene 5’ flanking region: analysis of retinoic acid responsiveness at the transcriptional level | 1-gen-1997 | Patrone, G.; Puliti, Aldamaria; Bocciardi, Renata; Ravazzolo, Roberto; Romeo, G. | |
Structure-activity relationship in the induction of chromosomal aberrations and spindle disturbances in Chinese hamster epithelial liver cells by regioisomeric phenanthrene quinones. | 1-gen-1997 | Turchi, G.; Glatt, H. R.; Seidel, A.; Puliti, Aldamaria; Sbrana, I. | |
Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease. | 1-gen-1997 | Pingault, V.; Puliti, Aldamaria; Prehu, M. O.; Samadi, A.; Bondurand, N.; Goossens, M. | |
Mappatura e clonaggio di geni che causano malattie congenite frequenti ad ereditarietà complessa: il caso della malattia di Hirschsprung | 1-gen-1998 | M., Seri; Puliti, Aldamaria; Bocciardi, Renata; G., Patrone; L., Yin; B., Pasini; A., Bolino; M., Lerone; M., Silengo; Martucciello, Giuseppe; I., Ceccherini; G., Romeo | |
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. | 1-gen-1998 | Herbarth, B.; Pingault, V.; Bondurand, N.; Kuhlbrodt, K.; HERMANS BORGMEYER, I.; Puliti, Aldamaria; Lemort, N.; Goossens, M.; Wegner, M. | |
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. | 1-gen-1998 | Pingault, V.; Bondurand, N.; Kuhlbrodt, K.; Goerich, D.; Prehu, M. O.; Puliti, Aldamaria; Legius, E.; Matthijs, G.; Amiel, J.; Lyonnet, S.; Ceccherini, I.; Romeo, G. | |
HOX11L1, a gene involved in the Peripheral Nervous System development, maps to human chromosome 2p12-p13.1 and mouse chromosome 6C3-D1. | 1-gen-1999 | Puliti, Aldamaria; Cinti, R.; Betsos, N.; Romeo, G.; Ceccherini, I. | |
Cell line-specific transcription rates of the RET gene and identification of functional domains in its minimal promoter. | 1-gen-2000 | Patrone, G.; Puppo, F.; Scaranari, M.; Griseri, P.; Cusano, R.; Romeo, G.; Ceccherini, I.; Puliti, Aldamaria; Ravazzolo, Roberto |
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