FRANCO, BRUNELLA
FRANCO, BRUNELLA
DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI
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.
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
Brief report: Intragenic deletion of the Kalig-1 gene in Kallmann’s syndrome.
1992 Bick, D; Franco, Brunella; Sherins, R. J.; Heye, B; Pike, L; Crawford, J; Maddalena, A; Incerti, B; Pragliola, A; Meitinger, T; Ballabio, Andrea
Identification and characterization of a novel member of the dystrobrevin gene family.
1998 Puca, A. A.; Nigro, V; Piluso, G; Belsito, A; Sampaolo, S; Quaderi, N; Rossi, E; DI IORIO, G; Ballabio, Andrea; Franco, Brunella
Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes.
1998 Rocchigiani, M; Lestingi, M; Luddi, A; Orlandini, M; Franco, Brunella; Rossi, E; Ballabio, Andrea; Zuffardi, O; Oliviero, S.
Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP diacylglycerol synthase gene.
1999 Volta, M; Bulfone, A; Gattuso, C; Rossi, E; Mariani, M; Consalez, G. G.; Zuffardi, O; Ballabio, Andrea; Banfi, S; Franco, Brunella
Neonatal multiple hyperplastic oral frenulae and bilobulated tongue
2003 Gerola, O; Cerbo, R. M.; Franco, Brunella; Rondini, G.
A novel human serine-threonine phosphatase related to the Drosophila retinal degeration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin.
1997 Montini, E; Rugarli, E. I.; VAN DE VOSSE, E; Andolfi, G; Mariani, M; Puca, A. A.; Consalez, G. G.; DEN DUNNEN, J. T.; Ballabio, Andrea; Franco, Brunella
Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated to upregulation of the mTOR pathway.
2010 D., Iaconis; A., Zullo; A., Barra; A., Cantone; N., Messadeq; G., Capasso; P., Dollé; P., Igarashi; Franco, Brunella
Ofd1 plays an important role in dorsal-ventral pattering of the telencephalon during brain development.
2009 A., De Angelis; R., Tammaro; A., Vitale; M., Studer; Franco, Brunella
La sindrome Oro-facio-digitale come sistema modello per studiare i diversi aspetti patologici delle ciliopatie.
2011 Franco, Brunella
Down regulation of Hccs in medaka recapitulates the phenotype observed in Microphthalmia with linear skin lesions (MLS) syndrome.
2009 A., Indrieri; Conte, Ivan; G., Chesi; P., Bovolenta; Franco, Brunella
“Le malattie da disfunzione ciliare: l'esempio della sindrome Orofacio-digitale di tipo I”
2009 Franco, Brunella
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-liked nonspecific mental retardation.
2000 Fukami, M; Kirsch, S; Schiller, S; Richter, A; Benes, V; Franco, Brunella; Muroya, K; Rao, E; Merker, S; Niesler, B; Ballabio, Andrea; Ansorge, W; Ogata, T; Rappold, G. A.
Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-8q21.1 region.
1999 Buchner, G; Bassi, M. T.; Andolfi, G; Ballabio, Andrea; Franco, Brunella
Mutational spectrum of the Oral-facial-digital type I syndrome: a study on a large collection of patients.
2008 C., Prattichizzo; M., Macca; V., Novelli; G., Giorgio; A., Barra; Franco, Brunella; OFDI collaborative, g. r. o. u. p.
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
2009 C., Thauvin Robinet; Franco, Brunella; P., Saugier Veber; B., Aral; N., Gigot; A., Donzel; L., Van Maldergem; E., Bieth; V., Layet; M., Mathieu; A., Teebi; J., Lespinasse; P., Callier; F., Mugneret; A., Masurel Paulet; E., Gautier; F., Huet; J. R., Teyssier; M., Tosi; T., Frébourg; L., Faivre
Cephalometric analysis and genetic study of two sisters with Orofaciodigital syndrome Type I.
2007 M., Romero; Franco, Brunella; J., Sanchez del Pozo; A., Romance
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.
2008 M., Morleo; Franco, Brunella
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
2010 S., Saal; L., Faivre; B., Aral; N., Gigot; A., Toutain; L., Van Maldergem; A., Destree; I., Maystadt; Jp, Cosyns; Ps, Jouk; B., Loeys; D., Chauveau; E., Bieth; V., Layet; M., Mathieu; J., Lespinasse; A., Teebi; Franco, Brunella; E., Gautier; C., Binquet; A., Masurel Paulet; C., Mousson; Jb, Gouyon; F., Huet; C., Thauvin Robinet
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| 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. | |
| 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 | |
| Brief report: Intragenic deletion of the Kalig-1 gene in Kallmann’s syndrome. | 1.1 Articolo in rivista | 1992 | Bick, D; Franco, Brunella; Sherins, R. J.; Heye, B; Pike, L; Crawford, J; Maddalena, A; Incerti, B; Pragliola, A; Meitinger, T; Ballabio, Andrea | |
| Identification and characterization of a novel member of the dystrobrevin gene family. | 1.1 Articolo in rivista | 1998 | Puca, A. A.; Nigro, V; Piluso, G; Belsito, A; Sampaolo, S; Quaderi, N; Rossi, E; DI IORIO, G; Ballabio, Andrea; Franco, Brunella | |
| Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes. | 1.1 Articolo in rivista | 1998 | Rocchigiani, M; Lestingi, M; Luddi, A; Orlandini, M; Franco, Brunella; Rossi, E; Ballabio, Andrea; Zuffardi, O; Oliviero, S. | |
| Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP diacylglycerol synthase gene. | 1.1 Articolo in rivista | 1999 | Volta, M; Bulfone, A; Gattuso, C; Rossi, E; Mariani, M; Consalez, G. G.; Zuffardi, O; Ballabio, Andrea; Banfi, S; Franco, Brunella | |
| Neonatal multiple hyperplastic oral frenulae and bilobulated tongue | 1.1 Articolo in rivista | 2003 | Gerola, O; Cerbo, R. M.; Franco, Brunella; Rondini, G. | |
| A novel human serine-threonine phosphatase related to the Drosophila retinal degeration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. | 1.1 Articolo in rivista | 1997 | Montini, E; Rugarli, E. I.; VAN DE VOSSE, E; Andolfi, G; Mariani, M; Puca, A. A.; Consalez, G. G.; DEN DUNNEN, J. T.; Ballabio, Andrea; Franco, Brunella | |
| Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated to upregulation of the mTOR pathway. | 4.1 Articoli in Atti di convegno | 2010 | D., Iaconis; A., Zullo; A., Barra; A., Cantone; N., Messadeq; G., Capasso; P., Dollé; P., Igarashi; Franco, Brunella | |
| Ofd1 plays an important role in dorsal-ventral pattering of the telencephalon during brain development. | 4.1 Articoli in Atti di convegno | 2009 | A., De Angelis; R., Tammaro; A., Vitale; M., Studer; Franco, Brunella | |
| La sindrome Oro-facio-digitale come sistema modello per studiare i diversi aspetti patologici delle ciliopatie. | 8.02 Comunicazioni a Convegni o Seminari | 2011 | Franco, Brunella | |
| Down regulation of Hccs in medaka recapitulates the phenotype observed in Microphthalmia with linear skin lesions (MLS) syndrome. | 4.1 Articoli in Atti di convegno | 2009 | A., Indrieri; Conte, Ivan; G., Chesi; P., Bovolenta; Franco, Brunella | |
| “Le malattie da disfunzione ciliare: l'esempio della sindrome Orofacio-digitale di tipo I” | 8.02 Comunicazioni a Convegni o Seminari | 2009 | Franco, Brunella | |
| A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-liked nonspecific mental retardation. | 1.1 Articolo in rivista | 2000 | Fukami, M; Kirsch, S; Schiller, S; Richter, A; Benes, V; Franco, Brunella; Muroya, K; Rao, E; Merker, S; Niesler, B; Ballabio, Andrea; Ansorge, W; Ogata, T; Rappold, G. A. | |
| Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-8q21.1 region. | 1.1 Articolo in rivista | 1999 | Buchner, G; Bassi, M. T.; Andolfi, G; Ballabio, Andrea; Franco, Brunella | |
| Mutational spectrum of the Oral-facial-digital type I syndrome: a study on a large collection of patients. | 1.1 Articolo in rivista | 2008 | C., Prattichizzo; M., Macca; V., Novelli; G., Giorgio; A., Barra; Franco, Brunella; OFDI collaborative, g. r. o. u. p. | |
| Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. | 1.1 Articolo in rivista | 2009 | C., Thauvin Robinet; Franco, Brunella; P., Saugier Veber; B., Aral; N., Gigot; A., Donzel; L., Van Maldergem; E., Bieth; V., Layet; M., Mathieu; A., Teebi; J., Lespinasse; P., Callier; F., Mugneret; A., Masurel Paulet; E., Gautier; F., Huet; J. R., Teyssier; M., Tosi; T., Frébourg; L., Faivre | |
| Cephalometric analysis and genetic study of two sisters with Orofaciodigital syndrome Type I. | 1.1 Articolo in rivista | 2007 | M., Romero; Franco, Brunella; J., Sanchez del Pozo; A., Romance | |
| Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders. | 1.1 Articolo in rivista | 2008 | M., Morleo; Franco, Brunella | |
| Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. | 1.1 Articolo in rivista | 2010 | S., Saal; L., Faivre; B., Aral; N., Gigot; A., Toutain; L., Van Maldergem; A., Destree; I., Maystadt; Jp, Cosyns; Ps, Jouk; B., Loeys; D., Chauveau; E., Bieth; V., Layet; M., Mathieu; J., Lespinasse; A., Teebi; Franco, Brunella; E., Gautier; C., Binquet; A., Masurel Paulet; C., Mousson; Jb, Gouyon; F., Huet; C., Thauvin Robinet |