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FRANCO, BRUNELLA

FRANCO, BRUNELLA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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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
Disruption of the IQSEC2 transcript in a female with X; autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome. 1.1 Articolo in rivista 2008 M., Morleo; D., Iaconis; D., Chitayat; I., Peluso; R., Marzella; A., Renieri; F., Mari; Franco, Brunella
Oral-Facial-Digital Syndrome Type 1. 1.1 Articolo in rivista 2007 E., Mihci; S., Tacoy; G., Ozbilim; Franco, Brunella
Mutational spectrum of the Oral-facial-digital type I syndrome: a study on a large collection of patients. 8.02 Comunicazioni a Convegni o Seminari 2008 Franco, Brunella
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. 1.1 Articolo in rivista 1991 Franco, Brunella; Guioli, S; Pragliola, A; Incerti, B; Bardoni, B; Tonlorenzi, R; Carrozzo, R; Maestrini, E; Pieretti, M; Taillon Miller, P; Brown, Cj; Willard, Hf; Lawrence, C; Graziella Persico, M; Camerino, G; Ballabio, Andrea
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. 1.1 Articolo in rivista 1998 Montini, E; Andolfi, G; Caruso, A; Buchner, G; Walpole, S. M.; Mariani, M; Consalez, G. G.; Trump, D; Ballabio, Andrea; Franco, Brunella
Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity. 1.1 Articolo in rivista 1999 Ahmad, W; DE FUSCO, M; FAIYAZ UL HAQUE, M; Aridon, P; Sarno, T; Sohail, M; UL HAQUE, S; Ahmad, M; Ballabio, Andrea; Franco, Brunella; Casari, G.
Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: Implication for MRX locus. 1.1 Articolo in rivista 1996 Muroya, K; Ogata, T; Matsuo, N; Nagai, T; Franco, Brunella; Ballabio, Andrea; Rappold, G; Sakura, N; Fukushima, Y.
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, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. 1.1 Articolo in rivista 1997 Quaderi, Na; Schweiger, S; Gaudenz, K; Franco, Brunella; Rugarli, Ei; Berger, W; Feldman, Gj; VOLTA M., ANDOLFI G; GILGENKRANTZ S., MARION RW; OPITZ JM, HENNEKAM R. C. M.; MUENKE M., ROPERS HH; Ballabio, Andrea
Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. 1.1 Articolo in rivista 2000 Buchner, G; Orfanelli, U; Quaderi, N; Bassi, M. T.; Andolfi, G; Ballabio, Andrea; Franco, Brunella
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.
Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. 1.1 Articolo in rivista 1996 Meroni, G; Franco, Brunella; Archidiacono, N; Messali, S; Andolfi, G; Rocchi, M; Ballabio, Andrea
Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. 1.1 Articolo in rivista 1995 Rugarli, E. I.; Adler, D. A.; Borsani, G; Tsuchiya, K; Franco, Brunella; Hauge, X; Disteche, C; Chapman, V; Ballabio, Andrea
Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease 1.1 Articolo in rivista 2006 O., Toprak; A., Uzum; M., Cirit; E., Esi; A., Inci; R., Ersoy; M., Tanrisev; E., Ok; Franco, Brunella
CDKL5/Stk9 Kinase Inactivation is Associated with Neuronal Developmental Disorders 1.1 Articolo in rivista 2005 C., Lin; M., Abe; Franco, Brunella; Mr, Rosner
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin-remodeling complex 1.1 Articolo in rivista 2007 G., Giorgio; M., Alfieri; C., Prattichizzo; A., Zullo; S., Cairo; Franco, Brunella