Sfoglia per Autore
Early versus late screening for phenylketonuria: a metabolic study.
1996-01-01 Ferraris S; Spada M; De Sanctis L; Ferrero GB; Pagliardini S; Dotti G; Silvestro L; Ponzone A
Inborn errors of neurotransmitter metabolism: from Phenotype to Genotype
1996-01-01 Carbonara C; Dianzani I; Spada M; Ferrero GB; De Sanctis L; De Luca F; Ponzone A.
Different strategies in the treatment of dihydropteridine reductase deficiency
1996-01-01 Spada M; Blau N; Meli C; Ferrero GB; De Sanctis L; Ferraris S; Ponzone A.
Mutations and phenotypes in dihydropteridine reductase deficiency in Italy
1996-01-01 De Sanctis L; Alliaudi C; Spada M; Cerone R; Biasucci G; Blau N; Ponzone A; Dianzani I.
Molecular analysis of the cystinuria disease gene: Identification of four new mutations, one large deletion, and one polymorphism
1996-01-01 Bisceglia L; Calonge MJ; Dello Strologo L; Rizzoni G; de Sanctis L; Gallucci M; Beccia E; Testar X; Zorzano A; Estivill X; Zelante L; Palacin M; Gasparini P; Nunes V.
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin.
1996-01-01 Spada M; Ferraris S; Ferrero GB; Sartore M; Lanza C; Perfetto F; de Sanctis L; Dompé C; Blau N; Ponzone A.
Phenotyping of phenylketonuric patients by oral phenylalanine loading.
1996-01-01 Ponzone A; Spada M; de Sanctis L; Dianzani I.
Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients.
1996-01-01 De Sanctis L; Bruno M; Bonetti G; Cosseddu D; Bisceglia L; Ponzone A; Dianzani I.
Dihydropteridine reductase deficiency: biochemical characterization of a new mild mutation and definition of the genomic structure of the DHPR gene.
1997-01-01 De Sanctis L; Armarego WLF; Smooker P; Gough T; Brusco A; Zhang HP; Yang A; Ponzone A.
Diagnosis and molecular characterization in 3 children with 17alpha-hydroxylase deficiency and female axternal genitalia.
1997-01-01 Einaudi S; De Sanctis L; Biason Lauber A; Perona A; Schwabe U; De Sanctis C.
Growth hormone treatment in irradiated children with brain tumors.
1997-01-01 Corrias A; Picco P; Einaudi S; de Sanctis L; Besenzon L; Garrè ML; Brach del Prever A; de Sanctis C.
Cistinuria: definizione del fenotipo attraverso carico orale con lisina a arginina e analisi del genotipo.
1998-01-01 De Sanctis L; Bonetti G; Bisceglia L; Bruno M; Dianzani I; Ponzone A.
difetto di diidropteridina reduttasi: struttura genomica del gene QDPR, identificazione di tre nuove mutazioni e correlazioni genotipo-fenotipo.
1998-01-01 De Sanctis L; Alliaudi C; Armarengo W; Spada M; Cotton RGH; Ponzone A; Dianzani I.
Cystinuria: definition of phenotype By Lysine and Arginine oral loads.
1998-01-01 De Sanctis L; Bruno M; Bonetti G; Bisceglia L; Dianzani I; Ponzone A.
diagnosi biochimica di eterozigosi per la fenilchetonuria.
1998-01-01 Spada M; Battistoni G; Bonetti G; Piccotti A; Perfetto F; Baglieri S; Peduto A; Chiadò Cutin S; De Sanctis L; Dianzani I; Ponzone A.
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
1998-01-01 Dianzani I; de Sanctis L; Smooker PM; Gough TJ; Alliaudi C; Brusco A; Spada M; Blau N; Dobos M; Zhang HP; Yang N; Ponzone A; Armarego WL; Cotton RG.
Molecular basis of dihydropteridine reductase (DHPR) deficiency: report of 5 new mutations and genotype/fenotype correlation.
1999-01-01 De Sanctis L; Alliaudi C; Spada M; Farrugia R; Cerone R; Blau N; Ponzone A. Dianzani I.
A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.
1999-01-01 Smooker PM; Gough TJ; Cotton RG; Alliaudi C; de Sanctis L; Dianzani I.
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
1999-01-01 Feliubadaló L; Font M; Purroy J; Rousaud F; Estivill X; Nunes V; Golomb E; Centola M; Aksentijevich I; Kreiss Y; Goldman B; Pras M; Kastner DL; Pras E; Gasparini P; Bisceglia L; Beccia E; Gallucci M; de Sanctis L; Ponzone A; Rizzoni GF, Zelante L; Bassi MT; George AL Jr; Manzoni M; De Grandi A; Riboni M; Endsley JK; Ballabio A; Borsani G; Reig N; Fernández E; Estévez R; Pineda M; Torrents D; Camps M; Lloberas J; Zorzano A; Palacín M; International Cystinuria Consortium.
Diagnosi di Pseudoipoparatiroidismo tipo la in 5 casi con l'analisi mutazionale del gene GNAS1.
2000-01-01 De Sanctis L; Dianzani I; Buzi F; Scirè G; Baroncelli G; Crinò A; Lala R; De sanctis C.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Early versus late screening for phenylketonuria: a metabolic study. | 1996 | Ferraris S; Spada M; De Sanctis L; Ferrero GB; Pagliardini S; Dotti G; Silvestro L; Ponzone A | |
| Inborn errors of neurotransmitter metabolism: from Phenotype to Genotype | 1996 | Carbonara C; Dianzani I; Spada M; Ferrero GB; De Sanctis L; De Luca F; Ponzone A. | |
| Different strategies in the treatment of dihydropteridine reductase deficiency | 1996 | Spada M; Blau N; Meli C; Ferrero GB; De Sanctis L; Ferraris S; Ponzone A. | |
| Mutations and phenotypes in dihydropteridine reductase deficiency in Italy | 1996 | De Sanctis L; Alliaudi C; Spada M; Cerone R; Biasucci G; Blau N; Ponzone A; Dianzani I. | |
| Molecular analysis of the cystinuria disease gene: Identification of four new mutations, one large deletion, and one polymorphism | 1996 | Bisceglia L; Calonge MJ; Dello Strologo L; Rizzoni G; de Sanctis L; Gallucci M; Beccia E; Testar X; Zorzano A; Estivill X; Zelante L; Palacin M; Gasparini P; Nunes V. | |
| Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. | 1996 | Spada M; Ferraris S; Ferrero GB; Sartore M; Lanza C; Perfetto F; de Sanctis L; Dompé C; Blau N; Ponzone A. | |
| Phenotyping of phenylketonuric patients by oral phenylalanine loading. | 1996 | Ponzone A; Spada M; de Sanctis L; Dianzani I. | |
| Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients. | 1996 | De Sanctis L; Bruno M; Bonetti G; Cosseddu D; Bisceglia L; Ponzone A; Dianzani I. | |
| Dihydropteridine reductase deficiency: biochemical characterization of a new mild mutation and definition of the genomic structure of the DHPR gene. | 1997 | De Sanctis L; Armarego WLF; Smooker P; Gough T; Brusco A; Zhang HP; Yang A; Ponzone A. | |
| Diagnosis and molecular characterization in 3 children with 17alpha-hydroxylase deficiency and female axternal genitalia. | 1997 | Einaudi S; De Sanctis L; Biason Lauber A; Perona A; Schwabe U; De Sanctis C. | |
| Growth hormone treatment in irradiated children with brain tumors. | 1997 | Corrias A; Picco P; Einaudi S; de Sanctis L; Besenzon L; Garrè ML; Brach del Prever A; de Sanctis C. | |
| Cistinuria: definizione del fenotipo attraverso carico orale con lisina a arginina e analisi del genotipo. | 1998 | De Sanctis L; Bonetti G; Bisceglia L; Bruno M; Dianzani I; Ponzone A. | |
| difetto di diidropteridina reduttasi: struttura genomica del gene QDPR, identificazione di tre nuove mutazioni e correlazioni genotipo-fenotipo. | 1998 | De Sanctis L; Alliaudi C; Armarengo W; Spada M; Cotton RGH; Ponzone A; Dianzani I. | |
| Cystinuria: definition of phenotype By Lysine and Arginine oral loads. | 1998 | De Sanctis L; Bruno M; Bonetti G; Bisceglia L; Dianzani I; Ponzone A. | |
| diagnosi biochimica di eterozigosi per la fenilchetonuria. | 1998 | Spada M; Battistoni G; Bonetti G; Piccotti A; Perfetto F; Baglieri S; Peduto A; Chiadò Cutin S; De Sanctis L; Dianzani I; Ponzone A. | |
| Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. | 1998 | Dianzani I; de Sanctis L; Smooker PM; Gough TJ; Alliaudi C; Brusco A; Spada M; Blau N; Dobos M; Zhang HP; Yang N; Ponzone A; Armarego WL; Cotton RG. | |
| Molecular basis of dihydropteridine reductase (DHPR) deficiency: report of 5 new mutations and genotype/fenotype correlation. | 1999 | De Sanctis L; Alliaudi C; Spada M; Farrugia R; Cerone R; Blau N; Ponzone A. Dianzani I. | |
| A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online. | 1999 | Smooker PM; Gough TJ; Cotton RG; Alliaudi C; de Sanctis L; Dianzani I. | |
| Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. | 1999 | Feliubadaló L; Font M; Purroy J; Rousaud F; Estivill X; Nunes V; Golomb E; Centola M; Aksentijevich I; Kreiss Y; Goldman B; Pras M; Kastner DL; Pras E; Gasparini P; Bisceglia L; Beccia E; Gallucci M; de Sanctis L; Ponzone A; Rizzoni GF, Zelante L; Bassi MT; George AL Jr; Manzoni M; De Grandi A; Riboni M; Endsley JK; Ballabio A; Borsani G; Reig N; Fernández E; Estévez R; Pineda M; Torrents D; Camps M; Lloberas J; Zorzano A; Palacín M; International Cystinuria Consortium. | |
| Diagnosi di Pseudoipoparatiroidismo tipo la in 5 casi con l'analisi mutazionale del gene GNAS1. | 2000 | De Sanctis L; Dianzani I; Buzi F; Scirè G; Baroncelli G; Crinò A; Lala R; De sanctis C. |
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