FRANCO, BRUNELLA
FRANCO, BRUNELLA
Dipartimento di Scienze mediche traslazionali
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
Primary cilia of odontoblasts: possible role in molar morphogenesis
2009 B., Thivichon Prince; Ml, Couble; A., Giamarchi; P., Delmas; Franco, Brunella; L., Romio; T., Struys; I., Lambrichts; D., Ressnikoff; H., Magloire; F., Bleicher
Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene
2009 C., Thauvin Robinet; P., Callier; Franco, Brunella; O., Zuffardi; M., Payet; B., Aral; N., Gigot; A., Donzel; A. L., Mosca Boidron; A., Masurel Paulet; F., Huet; J. R., Teyssier; F., Mugneret; L., Faivre
The molecular basis of oral-facial-digital syndrome, type 1.
2009 M., Macca; 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
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
Overlap cloning of the Xp22.3 region.
1991 R., Tonlorenzi; R., Carrozzo; Franco, Brunella; M., Pieretti; B., Bardoni; S., Guioli; G., Camerino; A. C., Chinault; D., Schlessinger; Ballabio, Andrea
“ Molecular basis of Oral-Facial-Digital type I syndrome”
2003 Franco, Brunella
“ An eXceptional chromosome”
2000 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
Oral-Facial-Digital Syndrome.
2008 Franco, Brunella
Basal body proteins regulate broad paracrine signaling by context-specific proteasomal degradation of signaling mediators.
2012 Y. P., Liu; I. C., Tsai; M., Morleo; E. C., Oh; C. C., Leitch; F., Massa; D. S., Parker; D., Finley; Franco, Brunella; N. A., Zaghloul; N., Katsanis
“Le malattie da disfunzione del ciglio primario:l'esempio della sindrome Oro-facio-digitale di tipo I”.
2007 Franco, Brunella
The Ofd1 transcript is involved in Antero-Posterior Patterning and Primary Cilia formation during Limb Morphogenesis.
2009 S., Bimonte; L., Quagliata; R., Tammaro; M., Ascenzi; Franco, Brunella
“The ciliopathies, an emerging class of genetic disorders: the example of the Oral-Facial-Digital type I syndrome”.
2007 Franco, Brunella
“The Oral-Facial-Digital type I syndrome as a model to study ciliary function”.
2006 Franco, Brunella
Ofd1 limb mesenchymal inactivation results in abnormal anteroposterior patterning and shortening of long bones.
2008 Franco, Brunella
The ciliopathies, an emerging class of genetic disorders: the example of the Oral-F Facial-Digital type I syndrome
2008 Franco, Brunella
Cilia and human diseases: insights from the OFD type I syndrome.
2011 Franco, Brunella
The Oral-facial-digital type I syndrome as a model system to study ciliary function.
2009 Franco, Brunella
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| 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 | |
| Primary cilia of odontoblasts: possible role in molar morphogenesis | 1.1 Articolo in rivista | 2009 | B., Thivichon Prince; Ml, Couble; A., Giamarchi; P., Delmas; Franco, Brunella; L., Romio; T., Struys; I., Lambrichts; D., Ressnikoff; H., Magloire; F., Bleicher | |
| Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene | 1.1 Articolo in rivista | 2009 | C., Thauvin Robinet; P., Callier; Franco, Brunella; O., Zuffardi; M., Payet; B., Aral; N., Gigot; A., Donzel; A. L., Mosca Boidron; A., Masurel Paulet; F., Huet; J. R., Teyssier; F., Mugneret; L., Faivre | |
| The molecular basis of oral-facial-digital syndrome, type 1. | 1.1 Articolo in rivista | 2009 | M., Macca; 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 | |
| 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 | |
| Overlap cloning of the Xp22.3 region. | 4.1 Articoli in Atti di convegno | 1991 | R., Tonlorenzi; R., Carrozzo; Franco, Brunella; M., Pieretti; B., Bardoni; S., Guioli; G., Camerino; A. C., Chinault; D., Schlessinger; Ballabio, Andrea | |
| “ Molecular basis of Oral-Facial-Digital type I syndrome” | 8.07 Progetti di Ricerca Finanziati | 2003 | Franco, Brunella | |
| “ An eXceptional chromosome” | 8.07 Progetti di Ricerca Finanziati | 2000 | 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 | |
| Oral-Facial-Digital Syndrome. | 8.02 Comunicazioni a Convegni o Seminari | 2008 | Franco, Brunella | |
| Basal body proteins regulate broad paracrine signaling by context-specific proteasomal degradation of signaling mediators. | 4.1 Articoli in Atti di convegno | 2012 | Y. P., Liu; I. C., Tsai; M., Morleo; E. C., Oh; C. C., Leitch; F., Massa; D. S., Parker; D., Finley; Franco, Brunella; N. A., Zaghloul; N., Katsanis | |
| “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 | |
| The Ofd1 transcript is involved in Antero-Posterior Patterning and Primary Cilia formation during Limb Morphogenesis. | 4.1 Articoli in Atti di convegno | 2009 | S., Bimonte; L., Quagliata; R., Tammaro; M., Ascenzi; Franco, Brunella | |
| “The ciliopathies, an emerging class of genetic disorders: the example of the Oral-Facial-Digital type I syndrome”. | 8.02 Comunicazioni a Convegni o Seminari | 2007 | Franco, Brunella | |
| “The Oral-Facial-Digital type I syndrome as a model to study ciliary function”. | 8.02 Comunicazioni a Convegni o Seminari | 2006 | Franco, Brunella | |
| Ofd1 limb mesenchymal inactivation results in abnormal anteroposterior patterning and shortening of long bones. | 8.02 Comunicazioni a Convegni o Seminari | 2008 | Franco, Brunella | |
| The ciliopathies, an emerging class of genetic disorders: the example of the Oral-F Facial-Digital type I syndrome | 8.02 Comunicazioni a Convegni o Seminari | 2008 | Franco, Brunella | |
| Cilia and human diseases: insights from the OFD type I syndrome. | 8.02 Comunicazioni a Convegni o Seminari | 2011 | Franco, Brunella | |
| The Oral-facial-digital type I syndrome as a model system to study ciliary function. | 8.02 Comunicazioni a Convegni o Seminari | 2009 | Franco, Brunella |