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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.
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.
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.
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
Mostrati risultati da 1 a 20 di 112
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