FRANCO, BRUNELLA
FRANCO, BRUNELLA
DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI
The Molecular basis of Oral-facial-digital type 1 (OFD1) syndrome.
2008 Franco, Brunella
A human homolog of the Drosophila retinal degeneration C (rdgC) gene encodes a novel serine threonine phosphatase selectively expressed in sensory neurons of neural crest origin
1997 E., Montini; E., Rugarli; E., VAN DE VOSSE; G., Andolfi; M., Mariani; Aa, Puca; G., Consales; JT DEN, Dunnen; Ballabio, Andrea; Franco, Brunella
A regulatory element within the 5’ flanking sequence of the Wiskott-Aldrich syndrome (WASP) gene controls expression in human hematopoietic cells
1998 A., Petrella; I., Doti; V., Agosti; P., CARADENTE GIARRUSSO; D., Vitale; Hm, Bond; C., Cuomo; V., Barbieri; Franco, Brunella; Ballabio, Andrea; S., Venuta; G., Morrone
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene
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.
Construction of a YAC contig covering human chromosome 6p22
1996 Malaspina, P; Roetto, A; Trettel, F; Jodice, C; Blasi, P; Frontali, M; Carella, M; Franco, Brunella; Camaschella, C. AND NOVELLETTO A.
A defect of midline development, Opitz syndrome, is due to mutations in a novel RING finger gene on Xp22
1997 N., Quaderi; S., Schweiger; K., Gaudenz; Franco, Brunella; E., Rugarli; W., Berger; G., Feldman; M., Volta; G., Andolfi; S., Gilgenkrantz; R., Marion; Rcm, Hennekam; Jm, Opitz; M., Muenke; Hh, Ropers; Ballabio, Andrea
Functional implications of the spectrum of mutations found in 235 cases with X-linked juvenile retinoschisis (XLRS)
1998 THE RETINOSCHISIS CONSORTIUM GROUP G., Andolfi; E., Montini; Y., Li; C., Oudet; H., Bolz; J., Kaplan; U., Orth; A., Gal; A., Hanauer; Am, Bardelli; C., Ayuso; P., Bitoun; V., Ventruto; B., Dallapiccola; Ballabio, Andrea; Franco, Brunella
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
1997 Carella, M; D'Ambrosio, L; Totaro, A; Grifa, A; Valentino, Ma; Piperno, A; Girelli, D; Roetto, A; Franco, Brunella; Gasparini, P. AND CAMASCHELLA C.
“Identification of the gene for Oral-facial-digital type I syndrome (OFD1) ”.
2001 Mi, Ferrante; G., Giorgio; Sa, Feather; A., Bulfone; V., Wright; A., Selicorni; F., Scolari; A. S., Woolf; Le, Marec; S., Malcolm; R., R. W. I. N. T. E.; Franco, Brunella
Two MspI RFLPs at the D17S258 locus
1990 Franco, Brunella; Limas, Dr; Nakamura, Y; PATEL PI AND LUPSKI, Jr
Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251].
1990 Patel, Pi; Ledbetter, Dh; Frances, S; Franco, Brunella; Wallace, Mr; COLLINS FS AND LUPSKI, Jr
Molecular characterization of a patient with del(1)(q23-q25).
1991 Franco, Brunella; Lai, Lw; Patterson, D; Ledbetter, Dh; Trask, Bj; VAN DEN ENGH, G; Iannaccone, S; Frances, S; PATEL PI AND LUPSKI, Jr
A Member of a Gene Family on Xp22.3, VCX-A, Is Deleted in Patients with X-Linked Nonspecific Mental Retardation
2000 M., Fukami; S., Kirsch; S., Schiller; A., Richter; V., Benes; Franco, Brunella; K., Muroya; E., Rao; S., Merker; B., Niesler; Ballabio, Andrea; W., Ansorge; T., Ogata; Ga, Rappold
Linkage mapping of a new syndromic form of X-linked mental retardation associated to obesity
1999 W., Ahmad; M., DE FUSCO; M., FAIYAZ UL HAQUE; P., Aridon; T., Sarno; S., UL HAQUE; M., Ahmad; Ballabio, Andrea; Franco, Brunella; G., Casari
Identification of SCML2, a second human gene homologous to the Drosophila Sex comb on midleg (Scm): a new gene cluster in Xp22
1999 E., Montini; G., Buchner; C., Spalluto; G., Andolfi; A., Caruso; JT DEN, Dunnen; D., Trump; M., Rocchi; Ballabio, Andrea; Franco, Brunella
Xp contiguous gene syndromes: from clinical observation to disease gene identification
2000 Franco, Brunella; Ballabio, Andrea
Neonatal multiple hyperplastic oral frenulae and bilobulated tongue
2003 Gerola, O; Cerbo, R. M.; Franco, Brunella; Rondini, G.
Exclusion of the PPEF gene as the gene causing X-linked juvenile Retinoschisis
1997 E., VAN DE VOSSE; Franco, Brunella; P., VAN DER BRENT; E., Montini; U., Orth; A., Hanauer; N., Tijmes; GJ VAN, Ommen; Ballabio, Andrea; JT DEN, Dunnen; Aa, Bergen
Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus
1996 Muroya, K; Ogata, T; Matsuo, N; Nagai, T; Franco, Brunella; Ballabio, Andrea; Rappold, G; Sakura, N. AND FUKUSHIMA Y.
Una proposta di valutazione dello sviluppo infantile/A model for the assessment of the infantile development
1988 DEL GIUDICE, Ennio; Greco, Luigi; G., Abignente; A., Romano; F., Latte; Franco, Brunella; G., Gentile; P., Parisi; R., Scorcia
Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
---|---|---|---|---|
The Molecular basis of Oral-facial-digital type 1 (OFD1) syndrome. | 2.1 Contributo in volume (Capitolo o Saggio) | 2008 | Franco, Brunella | |
A human homolog of the Drosophila retinal degeneration C (rdgC) gene encodes a novel serine threonine phosphatase selectively expressed in sensory neurons of neural crest origin | 1.1 Articolo in rivista | 1997 | E., Montini; E., Rugarli; E., VAN DE VOSSE; G., Andolfi; M., Mariani; Aa, Puca; G., Consales; JT DEN, Dunnen; Ballabio, Andrea; Franco, Brunella | |
A regulatory element within the 5’ flanking sequence of the Wiskott-Aldrich syndrome (WASP) gene controls expression in human hematopoietic cells | 1.1 Articolo in rivista | 1998 | A., Petrella; I., Doti; V., Agosti; P., CARADENTE GIARRUSSO; D., Vitale; Hm, Bond; C., Cuomo; V., Barbieri; Franco, Brunella; Ballabio, Andrea; S., Venuta; G., Morrone | |
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. | |
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. | |
A defect of midline development, Opitz syndrome, is due to mutations in a novel RING finger gene on Xp22 | 1.1 Articolo in rivista | 1997 | N., Quaderi; S., Schweiger; K., Gaudenz; Franco, Brunella; E., Rugarli; W., Berger; G., Feldman; M., Volta; G., Andolfi; S., Gilgenkrantz; R., Marion; Rcm, Hennekam; Jm, Opitz; M., Muenke; Hh, Ropers; Ballabio, Andrea | |
Functional implications of the spectrum of mutations found in 235 cases with X-linked juvenile retinoschisis (XLRS) | 1.1 Articolo in rivista | 1998 | THE RETINOSCHISIS CONSORTIUM GROUP G., Andolfi; E., Montini; Y., Li; C., Oudet; H., Bolz; J., Kaplan; U., Orth; A., Gal; A., Hanauer; Am, Bardelli; C., Ayuso; P., Bitoun; V., Ventruto; B., Dallapiccola; Ballabio, Andrea; Franco, Brunella | |
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. | 1.1 Articolo in rivista | 1997 | Carella, M; D'Ambrosio, L; Totaro, A; Grifa, A; Valentino, Ma; Piperno, A; Girelli, D; Roetto, A; Franco, Brunella; Gasparini, P. AND CAMASCHELLA C. | |
“Identification of the gene for Oral-facial-digital type I syndrome (OFD1) ”. | 1.1 Articolo in rivista | 2001 | Mi, Ferrante; G., Giorgio; Sa, Feather; A., Bulfone; V., Wright; A., Selicorni; F., Scolari; A. S., Woolf; Le, Marec; S., Malcolm; R., R. W. I. N. T. E.; Franco, Brunella | |
Two MspI RFLPs at the D17S258 locus | 1.1 Articolo in rivista | 1990 | Franco, Brunella; Limas, Dr; Nakamura, Y; PATEL PI 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 | |
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 | |
A Member of a Gene Family on Xp22.3, VCX-A, Is Deleted in Patients with X-Linked Nonspecific Mental Retardation | 1.1 Articolo in rivista | 2000 | M., Fukami; S., Kirsch; S., Schiller; A., Richter; V., Benes; Franco, Brunella; K., Muroya; E., Rao; S., Merker; B., Niesler; Ballabio, Andrea; W., Ansorge; T., Ogata; Ga, Rappold | |
Linkage mapping of a new syndromic form of X-linked mental retardation associated to obesity | 1.1 Articolo in rivista | 1999 | W., Ahmad; M., DE FUSCO; M., FAIYAZ UL HAQUE; P., Aridon; T., Sarno; S., UL HAQUE; M., Ahmad; Ballabio, Andrea; Franco, Brunella; G., Casari | |
Identification of SCML2, a second human gene homologous to the Drosophila Sex comb on midleg (Scm): a new gene cluster in Xp22 | 1.1 Articolo in rivista | 1999 | E., Montini; G., Buchner; C., Spalluto; G., Andolfi; A., Caruso; JT DEN, Dunnen; D., Trump; M., Rocchi; Ballabio, Andrea; Franco, Brunella | |
Xp contiguous gene syndromes: from clinical observation to disease gene identification | 1.1 Articolo in rivista | 2000 | Franco, Brunella; Ballabio, Andrea | |
Neonatal multiple hyperplastic oral frenulae and bilobulated tongue | 1.1 Articolo in rivista | 2003 | Gerola, O; Cerbo, R. M.; Franco, Brunella; Rondini, G. | |
Exclusion of the PPEF gene as the gene causing X-linked juvenile Retinoschisis | 1.1 Articolo in rivista | 1997 | E., VAN DE VOSSE; Franco, Brunella; P., VAN DER BRENT; E., Montini; U., Orth; A., Hanauer; N., Tijmes; GJ VAN, Ommen; Ballabio, Andrea; JT DEN, Dunnen; Aa, Bergen | |
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. | |
Una proposta di valutazione dello sviluppo infantile/A model for the assessment of the infantile development | 1.1 Articolo in rivista | 1988 | DEL GIUDICE, Ennio; Greco, Luigi; G., Abignente; A., Romano; F., Latte; Franco, Brunella; G., Gentile; P., Parisi; R., Scorcia |