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FRANCO, BRUNELLA

FRANCO, BRUNELLA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Titolo Tipologia Data di pubblicazione Autore(i) File
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
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
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. 1.1 Articolo in rivista 2010 Y., Sun; R., Almomani; E., Aten; J., Celli; J., van der Heijden; H., Venselaar; Sp, Robertson; A., Baroncini; Franco, Brunella; L., Basel Vanagaite; E., Horii; R., Drut; Y., Ariyurek; JT den, Dunnen; Mh, B. r. e. u. n. i. n. g.
“A cluster of Sulfatase genes on Xp22.3: Mutations in Chondrodysplasia punctata (CDPX) and implications for Warfarin embryopathy”. 8.02 Comunicazioni a Convegni o Seminari 1995 Franco, Brunella
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
Neonatal multiple hyperplastic oral frenulae and bilobulated tongue 1.1 Articolo in rivista 2003 Gerola, O; Cerbo, R. M.; Franco, Brunella; Rondini, G.
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
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
Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family 1.1 Articolo in rivista 2001 Ahmad, W; Noci, S; UL HAQUE, M. F.; Sarno, T; Aridon, P; Ahmad, M. M.; Aminuddin, M; ARSHAD RAFIQ, M; UL HAQUE, S; DE FUSCO, M; Ballabio, Andrea; Franco, Brunella; Casari, G.
Mutations of the Mitochondrial Holocytochrome c-Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome. 1.1 Articolo in rivista 2006 Wimplinger, I; Morleo, M; Rosenberger, G; Iaconis, D; Orth, U; Meinecke, P; Lerer, I; Ballabio, Andrea; Gal, A; Franco, Brunella; Kutsche, K.
MID2, a homolog of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. 1.1 Articolo in rivista 1999 Buchner, G; Montini, E; Andolfi, G; Quaderi, N; Cainarca, S; Messali, S; Bassi, M. T.; Ballabio, Andrea; Meroni, G; Franco, Brunella
Identification and characterization of AFG3L2, a novel paraplegin-related gene. 1.1 Articolo in rivista 1999 Banfi, S; Bassi, M. T.; Andolfi, G; Marchitiello, A; Zanotta, S; Ballabio, Andrea; Casari, G; Franco, Brunella