IRIS

ANDRIA, GENEROSO

ANDRIA, GENEROSO  

DIPARTIMENTO DI NEUROSCIENZE E SCIENZE RIPRODUTTIVE ED ODONTOSTOMATOLOGICHE  

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Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter. 1.1 Articolo in rivista 2001 DE BRASI, Daniele; Rossi, E; Giglio, S; D'Agostino, A; Titomanlio, Luigi; Farina, Vincenzo; Andria, Generoso; Sebastio, Gianfranco
Congenital insensitivity to pain withanhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putativeuniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a familywith CIPA and pyruvate kinase deficiency 1.1 Articolo in rivista 2001 Indo, Y; Mardy, S; Miura, Y; Moosa, A; Ismail, Ea; Toscano, E; Andria, Generoso; Pavone, V; Brown, Dl; Brooks, A; Endo, F; Matsuda, I.
CFC syndrome: report of familial cases 1.1 Articolo in rivista 1996 Lecora, M; Parenti, Giancarlo; Andria, Generoso
Charcot-Marie-Tooth disease: molecular characterization of patients from central and southern Italy. 1.1 Articolo in rivista 1995 Guzzetta, V; Santoro, Lucio; Gasparo Rippa, P; Ragno, M; Vita, G; Caruso, G; Andria, Generoso
Congenital insensitivity to pain with anhidrosis: anNGF/TrkA-related disorder 1.1 Articolo in rivista 2001 Toscano, E; Andria, Generoso
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum. 1.1 Articolo in rivista 1996 Guzzetta, V; Lecora, M; Rossi, G; Berni Canani, M; Andria, Generoso
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria. 1.1 Articolo in rivista 1998 De Franchis, R; Sperandeo, Mp; Sebastio, G; Andria, Generoso
Paediatric non-neuronopathic Gaucherdisease: recommendations for treatment and monitoring 1.1 Articolo in rivista 2004 Baldellou, A; Andria, Generoso; Campbell, Pe; Charrow, J; Cohen, Ij; Grabowski, Ga; Harris, Cm; Kaplan, P; Mchugh, K; Mengel, E; Vellodi, A.
Molecular andbiochemical analysis of protective protein/cathepsin A mutations: correlationwith clinical severity in galactosialidosis 1.1 Articolo in rivista 1996 Zhou, Xy; van der Spoel, A; Rottier, R; Hale, G; Willemsen, R; Berry, Gt; Strisciuglio, Pietro; Morrone, A; Zammarchi, E; Andria, Generoso; D'Azzo, A.
SIGEP(Italian Society of Pediatric Gastroenterology and Hepatology) and MedicalGenetic Group. Prevalence and clinical picture of celiac disease in italian down syndrome patients: a multicenter study 1.1 Articolo in rivista 2001 Bonamico, M; Mariani, P; Danesi, Hm; Crisogianni, M; Failla, P; Gemme, G; Quartino, Ar; Giannotti, A; Castro, M; Balli, F; Lecora, M; Andria, Generoso; Guariso, G; Gabrielli, O; Catassi, C; Lazzari, R; Balocco, Na; De Virgiliis, S; Culasso, F; Romano, C.
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group. 1.1 Articolo in rivista 1996 Guzzetta, V; De Fabiani, E; Galli, G; Colombo, C; Corso, G; Lecora, M; Parenti, Giancarlo; Strisciuglio, Pietro; Andria, Generoso
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiencyin Italian families, and report of four novel mutations 1.1 Articolo in rivista 1995 Sebastio, G; Sperandeo, Mp; Panico, M; de Franchis, R; Kraus, Jp; Andria, Generoso
Congenitalinsensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) geneencoding a high-affinity receptor for nerve growth factor 1.1 Articolo in rivista 1999 Mardy, S; Miura, Y; Endo, F; Matsuda, I; Sztriha, L; Frossard, P; Moosa, A; Ismail, Ea; Macaya, A; Andria, Generoso; Toscano, E; Gibson, W; Graham, Ge; Indo, Y.
A 68-bp insertion foundin a homocystinuric patient is a common variant and is skipped by alternativesplicing of the cystathionine beta-synthase mRNA. 1.1 Articolo in rivista 1996 Sperandeo, Mp; de Franchis, R; Andria, Generoso; Sebastio, G.
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients 1.1 Articolo in rivista 1999 Grasso, M; Faravelli, F; Lo Nigro, C; Chiurazzi, P; Sperandeo, Mp; Argusti, A; Pomponi, Mg; Lecora, M; Sebastio, Gf; Perroni, L; Andria, Generoso; Neri, G; Bricarelli, F. D.
Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency. 1.1 Articolo in rivista 1987 Parenti, Giancarlo; Ballabio, Andrea; Hoogeveen, At; Van der Loos, Cm; Jobsis, Ac; Andria, Generoso
Ultrasonographic detection ofarterial disease in treated homocystinuria 1.1 Articolo in rivista 1989 Rubba, PAOLO OSVALDO FEDERICO; Faccenda, F; Strisciuglio, Pietro; Andria, Generoso
Cystathionine beta-synthasemutations in homocystinuria. 1.1 Articolo in rivista 1999 Kraus, Jp; Janosík, M; Kozich, V; Mandell, R; Shih, V; Sperandeo, Mp; Sebastio, G; de Franchis, R; Andria, Generoso; Kluijtmans, La; Blom, H; Boers, Gh; Gordon, Rb; Kamoun, P; Tsai, My; Kruger, Wd; Koch, Hg; Ohura, T; Gaustadnes, M.
A novel mutation of the beta-glucocerebrosidase geneassociated with neurologic manifestations in three sibs 1.1 Articolo in rivista 1998 Parenti, Giancarlo; Filocamo, M; Titomanlio, L; Rizzolo, G; Silvestro, E; Perretti, A; Gatti, R; Andria, Generoso
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature 1.1 Articolo in rivista 2003 Rossi, M; Guerrini, R; Dobyns, Wb; Andria, Generoso; Winter, R. M.