ANDRIA, GENEROSO

ANDRIA, GENEROSO  

DIPARTIMENTO DI NEUROSCIENZE E SCIENZE RIPRODUTTIVE ED ODONTOSTOMATOLOGICHE  

Mostra records
Risultati 1 - 20 di 251 (tempo di esecuzione: 0.064 secondi).
Titolo Tipologia Data di pubblicazione Autore(i) File
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 1.1 Articolo in rivista 2008 Melis, Daniela; Balivo, F; DELLA CASA, Roberto; Romano, A; Taurisano, Roberta; Capaldo, Brunella; Riccardi, Gabriele; Monsurrò, Mr; Parenti, Giancarlo; Andria, Generoso
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy 1.1 Articolo in rivista 2009 Daniele, A.; Scala, Iris; Cardillo, G.; Pennino, C.; Ungaro, C.; Sibilio, M.; Parenti, Giancarlo; Esposito, L; Zagari, Adriana; Andria, Generoso; Salvatore, Francesco
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.
Contiguous gene syndromes due todeletions in the distal short arm of the human X chromosome. 1.1 Articolo in rivista 1989 Ballabio, Andrea; Bardoni, B; Carrozzo, R; Andria, Generoso; Bick, D; Campbell, L; Hamel, B; Ferguson Smith, Ma; Gimelli, G; Fraccaro, M.
Short fourth metacarpal in homocystinuria. 1.1 Articolo in rivista 1985 Tamburrini, O; Bartolomeo De Iuri, A; Andria, Generoso; Strisciuglio, Pietro; DEL GIUDICE, Ennio
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene 1.1 Articolo in rivista 1997 Guzzetta, V; Bonapace, G; Dianzani, I; Parenti, Giancarlo; Lecora, M; Giannattasio, S; Concolino, D; Strisciuglio, Pietro; Sebastio, Gianfranco; Andria, Generoso
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A)-related disorder 1.1 Articolo in rivista 2000 Toscano, E.; DELLA CASA, Roberto; Mardy, S.; Gaetaniello, L.; Sadile, Francesco; Indo, Y.; Pignata, Claudio; Andria, Generoso
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 1.1 Articolo in rivista 2006 Fecarotta, Simona; Parenti, Giancarlo; Vajro, Pietro; Zuppaldi, Alfredo; DELLA CASA, Roberto; Carbone, Mt; Correra, A; Torre, G; Riva, S; DIONISI VICI, C; Santorelli, Fm; Andria, Generoso
Relaxation of Insulin-like growth factor-2 imprinting and discordant methylation at KvDMR1 in two first-cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes 1.1 Articolo in rivista 2000 Sperandeo, Mp; Ungaro, P; Vernucci, M; Pedone, Pv; Cerrato, F; Perone, L; Casola, S; Cubellis, MARIA VITTORIA; Bruni, CARMELO BRUNO; Andria, Generoso; Sebastio, G; Riccio, A.
Megalocornea and mental retardation syndrome: two new cases. 1.1 Articolo in rivista 1987 DEL GIUDICE, Ennio; Sartorio, R; Romano, Alfonso; Carrozzo, R; Andria, Generoso
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 1.1 Articolo in rivista 1999 Titomanlio, Luigi; DELLA CASA, Roberto; Lecora, M.; Farina, Vincenzo; Sebastio, Gianfranco; Andria, Generoso; Parenti, Giancarlo
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. 1.1 Articolo in rivista 2007 Santamaria, Francesca; Andreucci, Mv; Parenti, Giancarlo; Polverino, M; Viggiano, D; Montella, Silvia; Cesaro, A; Ciccarelli, R; Capaldo, Brunella; Andria, Generoso
folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. 1.1 Articolo in rivista 2007 Scala, Iris; Granese, B; Lisi, A; Mastroiacovo, P; Andria, Generoso
Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome. 1.1 Articolo in rivista 2007 Galletti, P; DE BONIS, Ml; Sorrentino, A; Raimo, M; D'Angelo, S; Scala, Iris; Andria, Generoso; D'Aniello, A; Ingrosso, D; Zappia, Vincenzo
How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene? 1.1 Articolo in rivista 2003 Scala, I; Sperandeo, Mp; Fiorito, V; Andria, Generoso; Sebastio, G.
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 1.1 Articolo in rivista 2003 BRUNETTI PIERRI, Nicola; Andreucci, M. V.; Tuzzi, R.; Vega, G. R.; Gray, G.; Mckeown, C; Ballabio, Andrea; Andria, Generoso; Meroni, G.; Parenti, G.
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. 1.1 Articolo in rivista 1999 Borsani, G.; Bassi, Mt; Sperandeo, Mp; DE GRANDI, A.; Buoninconti, A.; Riboni, M.; Manzoni, M.; Incerti, B.; Andria, Generoso; Ballabio, Andrea; Sebastio, G.
Plasma homocysteine as a risk factor for vascular disease: the European concerted action project 1.1 Articolo in rivista 1997 Graham, Im; Daly, Le; Refsum, Hm; Robinson, K; Andria, Generoso
Spina bifida and folate-related genes: a study of gene-gene interactions 1.1 Articolo in rivista 2002 DE FRANCHIS, R; Botto, Ld; Sebastio, G; Ricci, R; Iolascon, A; Capra, V; Andria, Generoso; Mastroiacovo, P.
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 1.1 Articolo in rivista 2000 Sperandeo, Mp; Bassi, Mt; Riboni, M; Parenti, Giancarlo; Buoninconti, A; Manzoni, M; Incerti, B; Larocca, Mr; DI ROCCO, M; Strisciuglio, Pietro; Dianzani, I; Parini, R; Candito, M; Endo, F; Ballabio, Andrea; Andria, Generoso; Sebastio, Gianfranco; Borsani, G.