IRIS

FRANCO, BRUNELLA

FRANCO, BRUNELLA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Titolo Tipologia Data di pubblicazione Autore(i) File
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
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
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.
Construction of a YAC contig covering human chromosome 6p22 1.1 Articolo in rivista 1996 Malaspina, P; Roetto, A; Trettel, F; Jodice, C; Blasi, P; Frontali, M; Carella, M; Franco, Brunella; Camaschella, C. AND NOVELLETTO A.
Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus 1.1 Articolo in rivista 1996 Muroya, K; Ogata, T; Matsuo, N; Nagai, T; Franco, Brunella; Ballabio, Andrea; Rappold, G; Sakura, N. AND FUKUSHIMA Y.
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
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
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
The molecular basis of oral-facial-digital syndrome, type 1. 1.1 Articolo in rivista 2009 M., Macca; Franco, Brunella
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
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.
Corpus callosum agenesis, multiple cysts, skin defects and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;14) (pter;q11.2)] 1.1 Articolo in rivista 2001 R., Zannolli; R., Mostardini; L., Pucci; L., Sorrentino; M., Biagioli; R., Perotti; M., Guarna; T., Hadjistilianou; G., Zerega; M., Pierluigi; Franco, Brunella; A., D'Ambrosio; G., Morgese
Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p 1.1 Articolo in rivista 1992 Guzzetta, V; Franco, Brunella; Trask, Bj; Zhang, H; SAUCEDO CARDENAS, O; MONTES DE OCA LUNA, R; Greenberg, F; Chinault, Ac; LUPSKI JR AND PATEL, P. I.
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene 1.1 Articolo in rivista 1997 G., Parenti; P., Buttitta; G., Meroni; Franco, Brunella; L., Bernard; Mg, Rizzolo; BRUNETTI PIERRI, Nicola; Ballabio, Andrea; G. A. N. D. R. I., A.
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17 1.1 Articolo in rivista 1990 Patel, Pi; Franco, Brunella; Garcia, C; Slaugenhaupt, Sa; Nakamura, Y; Ledbetter, Dh; CHAKRAVARTI A., AND LUPSKI JR
Molecular characterization of a patient with del(1)(q23-q25). 1.1 Articolo in rivista 1991 Franco, Brunella; Lai, Lw; Patterson, D; Ledbetter, Dh; Trask, Bj; VAN DEN ENGH, G; Iannaccone, S; Frances, S; PATEL PI AND LUPSKI, Jr
Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids 1.1 Articolo in rivista 1990 Patel, Pi; Garcia, C; MONTES DE OCA LUNA, R; Malamut, Ri; Franco, Brunella; Slaugenhaupt, S; CHAKRAVARTI A., AND LUPSKI JR
Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251]. 1.1 Articolo in rivista 1990 Patel, Pi; Ledbetter, Dh; Frances, S; Franco, Brunella; Wallace, Mr; COLLINS FS AND LUPSKI, Jr
Mutations of SURF-1 in Leigh Disease associated with cytochrome c oxidase deficiency 1.1 Articolo in rivista 1998 V., Tiranti; K., Hoertnagel; R., Carrozzo; C., Galimberti; M., Munaro; M., Granatiero; L., Zelante; P., Gasparini; R., Marzella; M., Rocchi; M., PILAR BAYONA BAFALUY; A., Enriquez; G., Uziel; E., Bertini; C., DIONISI VICI; Franco, Brunella; T., Meitinger; AND M., Zeviani
IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system 1.1 Articolo in rivista 2001 Mi, Ferrante; M., Ghiani; A., Bulfone; Franco, Brunella