FRANCO, BRUNELLA
FRANCO, BRUNELLA
DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI
Una proposta di valutazione dello sviluppo infantile.
1988 DEL GIUDICE, Ennio; Greco, Luigi; Abignente, G; Romano, A; Latte, F; Franco, Brunella; Gentile, G; Parisi, P; Scorcia, R.
A 5’ regulatory sequence containing two Ets motifs controls the expression of the Wiskott Aldrich syndrome protein (WASP) gene in human haematopoietic cells.
1998 Petrella, A; Doti, I; Agosti, V; CARANDENTE GIARRUSSO, P; Vitale, D; Bond, H. M.; Cuomo, C; Barbieri, V; Franco, Brunella; Ballabio, Andrea; Venuta, S; Morrone, G.
The role of the centrosomal/basal body protein Ofd1 in the postnatal liver.
2010 A., D'Angelo; I., Piscopo; R., Tammaro; A., De Angelis; Franco, Brunella
Two MspI RFLPs at the D17S258 locus
1990 Franco, Brunella; Limas, Dr; Nakamura, Y; PATEL PI AND LUPSKI, Jr
The aberrant host response to EBV infection in X-linked Lymphoproliferative disease results from mutations in a novel SH2-domain encoding gene
1998 Aj, Coffey; Ra, Brooksbank; O., Brandau; T., Oohasai; Gr, Howell; Jm, Bye; Ap, Cahn; J., Durham; P., Heath; P., Wray; R., Pavitt; J., Wilkinson; M., Leversha; E., Huckle; CJ SHAW, Smith; A., Dunham; S., Rhodes; V., Schuster; G., Porta; L., Yin; P., Serafini; B., Sylla; Zollo, Massimo; Franco, Brunella; A., Bolino; M., Seri; A., Lanyi; Jr, Davis; D., Webster; A., Harris; G., Lenoir; G., DE ST BASILE; A., Jones; Bh, Behloradsky; H., Achatz; J., Murken; R., Faessler; J., Sumegi; G., Romeo; M., Vaudin; Mt, Ross; A. MEINDL DR B. E. N. T. L. E., Y.
Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulphatase gene (ARSF) from the Xp22.3 region.
1997 Puca, A. A.; Zollo, Massimo; Repetto, M; Andolfi, G; Guffanti, A; Simon, G; Ballabio, Andrea; Franco, Brunella
A human homolog of the Drosophila retinal degeneration C (rdgC) gene encodes a novel serine threonine phosphatase selectively expressed in sensory neurons of neural crest origin
1997 E., Montini; E., Rugarli; E., VAN DE VOSSE; G., Andolfi; M., Mariani; Aa, Puca; G., Consales; JT DEN, Dunnen; Ballabio, Andrea; Franco, Brunella
OFDI, the gene mutated in Oral-Facial-Digital syndrome type 1, codes for a metanephic mesenchymal protein
2003 L., Romio; V., Wright; K., Price; Pdj, Winyard; D., Donnai; E., Porteous; Franco, Brunella; G., Giorgio; S., Malcom; As, Woolf; Sa, Feather
Cloning and characterization of a candidate gene for Kallmann syndrome on Xp22.3.
1991 Franco, Brunella; A., Pragliola; R., Tonlorenzi; B., Incerti; R., Carrozzo; G., Persico; Ballabio, Andrea
A regulatory element within the 5’ flanking sequence of the Wiskott-Aldrich syndrome (WASP) gene controls expression in human hematopoietic cells
1998 A., Petrella; I., Doti; V., Agosti; P., CARADENTE GIARRUSSO; D., Vitale; Hm, Bond; C., Cuomo; V., Barbieri; Franco, Brunella; Ballabio, Andrea; S., Venuta; G., Morrone
Characterization of 717A-X, a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains
1998 L., DE CONCILIIS; A., Marchitiello; Mc, Wapenaar; G., Borsani; S., Giglio; M., Mariani; Gg, Consalez; O., Zuffardi; Franco, Brunella; Ballabio, Andrea; S., Banfi
Generation of a Transcription map of a 1 Mbase region containing the HLA-H gene (6p22)
1998 A., Totaro; A., Roetto; J., Rommens; A., Grifa; M., Carella; MA VALENTINO, L. D. A. G. R. U. M. A.; J., Huizenga; C., Camaschella; Franco, Brunella; P., Gasparini
Molecular analysis of Smith-Magenis syndrome (SMS)[del(17)(p11.2)]: Delineation of the critical deletion interval, parental origin and new markers.
1991 P. I., Patel; L., Pentao; V., Guzzetta; R., Montes de Oca Luna; Franco, Brunella; J., Zackowski; F., Greenberg; J., Lupski
A defect of midline development, Opitz syndrome, is due to mutations in a novel RING finger gene on Xp22
1997 N., Quaderi; S., Schweiger; K., Gaudenz; Franco, Brunella; E., Rugarli; W., Berger; G., Feldman; M., Volta; G., Andolfi; S., Gilgenkrantz; R., Marion; Rcm, Hennekam; Jm, Opitz; M., Muenke; Hh, Ropers; Ballabio, Andrea
Microphthalmia with Linear Skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases. American Journal Medical Genetics
2005 M., Morleo; T., Pramparo; L., Perone; G., Gregato; C., LE CAIGNEC; Rf, Mueller; T., Ogata; A., RAAS ROTHSCHILD; M., CHRISTINE DE BLOIS; Lc, Wilson; G., Zaidman; O., Zuffardi; Ballabio, Andrea; Franco, Brunella
Exclusion of the PPEF gene as the gene causing X-linked juvenile Retinoschisis
1997 E., VAN DE VOSSE; Franco, Brunella; P., VAN DER BRENT; E., Montini; U., Orth; A., Hanauer; N., Tijmes; GJ VAN, Ommen; Ballabio, Andrea; JT DEN, Dunnen; Aa, Bergen
A new gene on Xp22.3 escapes X-inactivation.
1991 B., Incerti; Franco, Brunella; A., Pragliola; G., Persico; G., Brown; H. W., Willard; Ballabio, Andrea
“Le malattie da disfunzione del ciglio primario:l'esempio della sindrome Oro-facio-digitale di tipo I”.
2007 Franco, Brunella
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil a-helical domains.
1998 DE CONCILIIS, L; Marchitiello, A; Wapenaar, M. C.; Borsani, G; Giglio, S; Mariani, M; Consalez, G. G.; Zuffardi, O; Franco, Brunella; Ballabio, Andrea; Banfi, S.
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy terminal domain.
1998 Gaudenz, K; Roessler, E; Quaderi, N; Franco, Brunella; Feldman, G; Gasser, D. L.; Wittwer, B; Montini, E; Opitz, J. M.; Ballabio, Andrea; Muenke, M.
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Una proposta di valutazione dello sviluppo infantile. | 1.1 Articolo in rivista | 1988 | DEL GIUDICE, Ennio; Greco, Luigi; Abignente, G; Romano, A; Latte, F; Franco, Brunella; Gentile, G; Parisi, P; Scorcia, R. | |
| A 5’ regulatory sequence containing two Ets motifs controls the expression of the Wiskott Aldrich syndrome protein (WASP) gene in human haematopoietic cells. | 1.1 Articolo in rivista | 1998 | Petrella, A; Doti, I; Agosti, V; CARANDENTE GIARRUSSO, P; Vitale, D; Bond, H. M.; Cuomo, C; Barbieri, V; Franco, Brunella; Ballabio, Andrea; Venuta, S; Morrone, G. | |
| The role of the centrosomal/basal body protein Ofd1 in the postnatal liver. | 4.1 Articoli in Atti di convegno | 2010 | A., D'Angelo; I., Piscopo; R., Tammaro; A., De Angelis; Franco, Brunella | |
| Two MspI RFLPs at the D17S258 locus | 1.1 Articolo in rivista | 1990 | Franco, Brunella; Limas, Dr; Nakamura, Y; PATEL PI AND LUPSKI, Jr | |
| The aberrant host response to EBV infection in X-linked Lymphoproliferative disease results from mutations in a novel SH2-domain encoding gene | 1.1 Articolo in rivista | 1998 | Aj, Coffey; Ra, Brooksbank; O., Brandau; T., Oohasai; Gr, Howell; Jm, Bye; Ap, Cahn; J., Durham; P., Heath; P., Wray; R., Pavitt; J., Wilkinson; M., Leversha; E., Huckle; CJ SHAW, Smith; A., Dunham; S., Rhodes; V., Schuster; G., Porta; L., Yin; P., Serafini; B., Sylla; Zollo, Massimo; Franco, Brunella; A., Bolino; M., Seri; A., Lanyi; Jr, Davis; D., Webster; A., Harris; G., Lenoir; G., DE ST BASILE; A., Jones; Bh, Behloradsky; H., Achatz; J., Murken; R., Faessler; J., Sumegi; G., Romeo; M., Vaudin; Mt, Ross; A. MEINDL DR B. E. N. T. L. E., Y. | |
| Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulphatase gene (ARSF) from the Xp22.3 region. | 1.1 Articolo in rivista | 1997 | Puca, A. A.; Zollo, Massimo; Repetto, M; Andolfi, G; Guffanti, A; Simon, G; Ballabio, Andrea; Franco, Brunella | |
| A human homolog of the Drosophila retinal degeneration C (rdgC) gene encodes a novel serine threonine phosphatase selectively expressed in sensory neurons of neural crest origin | 1.1 Articolo in rivista | 1997 | E., Montini; E., Rugarli; E., VAN DE VOSSE; G., Andolfi; M., Mariani; Aa, Puca; G., Consales; JT DEN, Dunnen; Ballabio, Andrea; Franco, Brunella | |
| OFDI, the gene mutated in Oral-Facial-Digital syndrome type 1, codes for a metanephic mesenchymal protein | 1.1 Articolo in rivista | 2003 | L., Romio; V., Wright; K., Price; Pdj, Winyard; D., Donnai; E., Porteous; Franco, Brunella; G., Giorgio; S., Malcom; As, Woolf; Sa, Feather | |
| Cloning and characterization of a candidate gene for Kallmann syndrome on Xp22.3. | 4.1 Articoli in Atti di convegno | 1991 | Franco, Brunella; A., Pragliola; R., Tonlorenzi; B., Incerti; R., Carrozzo; G., Persico; Ballabio, Andrea | |
| A regulatory element within the 5’ flanking sequence of the Wiskott-Aldrich syndrome (WASP) gene controls expression in human hematopoietic cells | 1.1 Articolo in rivista | 1998 | A., Petrella; I., Doti; V., Agosti; P., CARADENTE GIARRUSSO; D., Vitale; Hm, Bond; C., Cuomo; V., Barbieri; Franco, Brunella; Ballabio, Andrea; S., Venuta; G., Morrone | |
| Characterization of 717A-X, a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains | 1.1 Articolo in rivista | 1998 | L., DE CONCILIIS; A., Marchitiello; Mc, Wapenaar; G., Borsani; S., Giglio; M., Mariani; Gg, Consalez; O., Zuffardi; Franco, Brunella; Ballabio, Andrea; S., Banfi | |
| Generation of a Transcription map of a 1 Mbase region containing the HLA-H gene (6p22) | 1.1 Articolo in rivista | 1998 | A., Totaro; A., Roetto; J., Rommens; A., Grifa; M., Carella; MA VALENTINO, L. D. A. G. R. U. M. A.; J., Huizenga; C., Camaschella; Franco, Brunella; P., Gasparini | |
| Molecular analysis of Smith-Magenis syndrome (SMS)[del(17)(p11.2)]: Delineation of the critical deletion interval, parental origin and new markers. | 4.1 Articoli in Atti di convegno | 1991 | P. I., Patel; L., Pentao; V., Guzzetta; R., Montes de Oca Luna; Franco, Brunella; J., Zackowski; F., Greenberg; J., Lupski | |
| A defect of midline development, Opitz syndrome, is due to mutations in a novel RING finger gene on Xp22 | 1.1 Articolo in rivista | 1997 | N., Quaderi; S., Schweiger; K., Gaudenz; Franco, Brunella; E., Rugarli; W., Berger; G., Feldman; M., Volta; G., Andolfi; S., Gilgenkrantz; R., Marion; Rcm, Hennekam; Jm, Opitz; M., Muenke; Hh, Ropers; Ballabio, Andrea | |
| Microphthalmia with Linear Skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases. American Journal Medical Genetics | 1.1 Articolo in rivista | 2005 | M., Morleo; T., Pramparo; L., Perone; G., Gregato; C., LE CAIGNEC; Rf, Mueller; T., Ogata; A., RAAS ROTHSCHILD; M., CHRISTINE DE BLOIS; Lc, Wilson; G., Zaidman; O., Zuffardi; Ballabio, Andrea; Franco, Brunella | |
| Exclusion of the PPEF gene as the gene causing X-linked juvenile Retinoschisis | 1.1 Articolo in rivista | 1997 | E., VAN DE VOSSE; Franco, Brunella; P., VAN DER BRENT; E., Montini; U., Orth; A., Hanauer; N., Tijmes; GJ VAN, Ommen; Ballabio, Andrea; JT DEN, Dunnen; Aa, Bergen | |
| A new gene on Xp22.3 escapes X-inactivation. | 4.1 Articoli in Atti di convegno | 1991 | B., Incerti; Franco, Brunella; A., Pragliola; G., Persico; G., Brown; H. W., Willard; Ballabio, Andrea | |
| “Le malattie da disfunzione del ciglio primario:l'esempio della sindrome Oro-facio-digitale di tipo I”. | 8.02 Comunicazioni a Convegni o Seminari | 2007 | Franco, Brunella | |
| Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil a-helical domains. | 1.1 Articolo in rivista | 1998 | DE CONCILIIS, L; Marchitiello, A; Wapenaar, M. C.; Borsani, G; Giglio, S; Mariani, M; Consalez, G. G.; Zuffardi, O; Franco, Brunella; Ballabio, Andrea; Banfi, S. | |
| Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy terminal domain. | 1.1 Articolo in rivista | 1998 | Gaudenz, K; Roessler, E; Quaderi, N; Franco, Brunella; Feldman, G; Gasser, D. L.; Wittwer, B; Montini, E; Opitz, J. M.; Ballabio, Andrea; Muenke, M. |