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Results: 1-17 |
Results: 17
The molecular bases of cystinuria and lysinuric protein intolerance
Authors: Palacin, M Borsani, G Sebastio, G
Citation: M. Palacin et al., The molecular bases of cystinuria and lysinuric protein intolerance, CUR OP GEN, 11(3), 2001, pp. 328-335
Inv dup del (1)(pter -> q44 :: q44 -> q42 :) with the classical phenotype of trisomy 1q42-qter
Authors: De Brasi, D Rossi, E Giglio, S D'Agostino, A Titomanlio, L Farina, V Andria, G Sebastio, G
Citation: D. De Brasi et al., Inv dup del (1)(pter -> q44 :: q44 -> q42 :) with the classical phenotype of trisomy 1q42-qter, AM J MED G, 104(2), 2001, pp. 127-130
Case of Myhre syndrome with autism and peculiar skin histological findings
Authors: Titomanlio, L Marzano, MG Rossi, E D'Armiento, M De Brasi, D Vega, GR Andreucci, MV Orsini, AVM Santoro, L Sebastio, G
Citation: L. Titomanlio et al., Case of Myhre syndrome with autism and peculiar skin histological findings, AM J MED G, 103(2), 2001, pp. 163-165
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects
Authors: Dall'Asta, V Bussolati, O Sala, R Rotoli, BM Sebastio, G Sperandeo, MP Andria, G Gazzola, GC
Citation: V. Dall'Asta et al., Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects, AM J P-CELL, 279(6), 2000, pp. C1829-C1837
Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia
Authors: de Franchis, R Fermo, I Mazzola, G Sebastio, G Di Minno, G Coppola, A Andria, G D'Angelo, A
Citation: R. De Franchis et al., Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia, THROMB HAEM, 84(4), 2000, pp. 576-582
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance
Authors: Boyd, CAR Deves, R Laynes, R Kudo, Y Sebastio, G
Citation: Car. Boyd et al., Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance, PFLUG ARCH, 439(5), 2000, pp. 513-516
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
Authors: Sperandeo, MP Ungaro, P Vernucci, M Pedone, PV Cerrato, F Perone, L Casola, S Cubellis, MV Bruni, CB Andria, G Sebastio, G Riccio, A
Citation: Mp. Sperandeo et al., 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, AM J HU GEN, 66(3), 2000, pp. 841-847
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
Authors: Sperandeo, MP Bassi, MT Riboni, M Parenti, G Buoninconti, A Manzoni, M Incerti, B Larocca, MR Di Rocco, M Strisciuglio, P Dianzani, I Parini, R Candito, M Endo, F Ballabio, A Andria, G Sebastio, G Borsani, G
Citation: Mp. Sperandeo et al., Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance, AM J HU GEN, 66(1), 2000, pp. 92-99
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
Authors: Borsani, G Bassi, MT Sperandeo, MP De Grandi, A Buoninconti, A Riboni, M Manzoni, M Incerti, B Pepe, A Andria, G Ballabio, A Sebastio, G
Citation: G. Borsani et al., SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance, NAT GENET, 21(3), 1999, pp. 297-301
Four novel mutations in the cystathionine beta-synthase gene: Effect of a second linked mutation on the severity of the homocystinuric phenotype
Authors: de Franchis, R Kraus, E Kozich, V Sebastio, G Kraus, JP
Citation: R. De Franchis et al., Four novel mutations in the cystathionine beta-synthase gene: Effect of a second linked mutation on the severity of the homocystinuric phenotype, HUM MUTAT, 13(6), 1999, pp. 453-457
Cystathionine beta-synthase mutations in homocystinuria
Authors: Kraus, JP Janosik, M Kozich, V Mandell, R Shih, V Sperandeo, MP Sebastio, G de Franchis, R Andria, G Kluijtmans, LAJ Blom, H Boers, GHJ Gordon, RB Kamoun, P Tsai, MY Kruger, WD Koch, HG Ohura, T Gaustadnes, M
Citation: Jp. Kraus et al., Cystathionine beta-synthase mutations in homocystinuria, HUM MUTAT, 13(5), 1999, pp. 362-375
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Delta7-sterol reductase in Italy and report of three novel mutations
Authors: De Brasi, D Esposito, T Rossi, M Parenti, G Sperandeo, MP Zuppaldi, A Bardaro, T Ambruzzi, MA Zelante, L Ciccodicola, A Sebastio, G D'Urso, M Andria, G
Citation: D. De Brasi et al., Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Delta7-sterol reductase in Italy and report of three novel mutations, EUR J HUM G, 7(8), 1999, pp. 937-940
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family
Authors: Bassi, MT Sperandeo, MP Incerti, B Bulfone, A Pepe, A Surace, EM Gattuso, C De Grandi, A Buoninconti, A Riboni, M Manzoni, M Andria, G Ballabio, A Borsani, G Sebastio, G
Citation: Mt. Bassi et al., SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family, GENOMICS, 62(2), 1999, pp. 297-303
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report
Authors: Sperandeo, MP Buoninconti, A Passariello, A Scala, I Adami, A Lauteala, T Mykkanen, J Andria, G Sebastio, G
Citation: Mp. Sperandeo et al., Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report, PRENAT DIAG, 19(8), 1999, pp. 771-773
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form
Authors: Titomanlio, L Della Casa, R Lecora, M Farina, V Sebastio, G Andria, G Parenti, G
Citation: L. Titomanlio et al., Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form, AM J MED G, 86(1), 1999, pp. 82-85
Cloverleaf skull anomaly and de novo trisomy 4p
Authors: De Brasi, D Berone, L Di Micco, P Andria, G Sebastio, G Iaccarino, E Pinto, L Aliberti, F
Citation: D. De Brasi et al., Cloverleaf skull anomaly and de novo trisomy 4p, J MED GENET, 36(5), 1999, pp. 422-424
Genetic homogeneity of lysinuric protein intolerance
Authors: Lauteala, T Mykkanen, J Sperandeo, MP Gasparini, P Savontaus, ML Simell, O Andria, G Sebastio, G Aula, P
Citation: T. Lauteala et al., Genetic homogeneity of lysinuric protein intolerance, EUR J HUM G, 6(6), 1998, pp. 612-615
Risultati: 1-17 |