SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance von Borsani, Giuseppe, Sebastio, Gianfranco, Bassi, Maria Teresa, Sperandeo, Maria Pia, Grandi, Alessandro De, Buoninconti, Anna, Riboni, Mirko, Manzoni, Marta, Incerti, Barbara, Pepe, Antonio, Andria, Generoso, Ballabio, Andrea

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Cystathionine β-synthase mutations in homocystinuria von Kraus, Jan P., Janošík, Miroslav, Kožich, Viktor, Mandell, Roseann, Shih, Vivian, Sperandeo, M.P., Sebastio, Gianfranco, de Franchis, Raffaella, Andria, Generoso, Kluijtmans, Leo A.J., Blom, Henk, Boers, Godfried H.J., Gordon, Ross B., Kamoun, Pierre, Tsai, Michael Y., Kruger, Warren D., Koch, Hans G., Ohura, Toshihiro, Gaustadnes, Mette

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Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance von Sperandeo, Maria Pia, Bassi, Maria Teresa, Riboni, Mirko, Parenti, Giancarlo, Buoninconti, Anna, Manzoni, Marta, Incerti, Barbara, Larocca, Maria Rosaria, Di Rocco, Maja, Strisciuglio, Pietro, Dianzani, Irma, Parini, Rossella, Candito, Miranda, Endo, Fumio, Ballabio, Andrea, Andria, Generoso, Sebastio, Gianfranco, Borsani, Giuseppe

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Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene von Titomanlio, L., De Brasi, D., Buoninconti, A., Sperandeo, M.P., Pepe, A., Andria, G., Sebastio, G.

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Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene von Sperandeo, Maria Pia, Annunziata, Patrizia, Ammendola, Virginia, Fiorito, Valentina, Pepe, Antonio, Soldovieri, Maria Virginia, Taglialatela, Maurizio, Andria, Generoso, Sebastio, Gianfranco

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A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA von Sperandeo, M P, de Franchis, R, Andria, G, Sebastio, G

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A y LAT-1 mutant protein interferes with y LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance von SPERANDEO, Maria P, PALADINO, Simona, MAIURI, Luigi, MAROUPULOS, George D, ZURZOLO, Chiara, TAGLIALATELA, Maurizio, ANDRIA, Generoso, SEBASTIO, Gianfranco

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Arginine transport through system y+L in cultured human fibroblasts: normal phenotype of cells from LPI subjects von Dall'Asta, Valeria, Bussolati, Ovidio, Sala, Roberto, Rotoli, Bianca Maria, Sebastio, Gianfranco, Sperandeo, Maria Pia, Andria, Generoso, Gazzola, Gian C

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The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy von de Franchis, R, Buoninconti, A, Mandato, C, Pepe, A, Sperandeo, M P, Del Gado, R, Capra, V, Salvaggio, E, Andria, G, Mastroiacovo, P

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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 von Sperandeo, Maria Pia, Ungaro, Paola, Vernucci, Maria, Pedone, Paolo V., Cerrato, Flavia, Perone, Lucia, Casola, Stefano, Cubellis, Maria Vittoria, Bruni, Carmelo B., Andria, Generoso, Sebastio, Gianfranco, Riccio, Andrea

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The Gene Encoding a Cationic Amino Acid Transporter (SLC7A4) Maps to the Region Deleted in the Velocardiofacial Syndrome von Sperandeo, Maria Pia, Borsani, Giuseppe, Incerti, Barbara, Zollo, Massimo, Rossi, Elena, Zuffardi, Orsetta, Castaldo, Pasqualina, Taglialatela, Maurizio, Andria, Generoso, Sebastio, Gianfranco

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How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene? von Scala, Iris, Sperandeo, Maria P., Fiorito, Valentina, Andria, Generoso, Sebastio, Gianfranco

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Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations von 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

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Genetic homogeneity of lysinuric protein intolerance von Lauteala, T, Mykkänen, J, Sperandeo, M P, Gasparini, P, Savontaus, M L, Simell, O, Andria, G, Sebastio, G, Aula, P

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SLC7A8, a Gene Mapping within the Lysinuric Protein Intolerance Critical Region, Encodes a New Member of the Glycoprotein-Associated Amino Acid Transporter Family von Bassi, Maria Teresa, Sperandeo, Maria Pia, Incerti, Barbara, Bulfone, Alessandro, Pepe, Antonio, Surace, Enrico Maria, Gattuso, Claudio, De Grandi, Alessandro, Buoninconti, Anna, Riboni, Mirko, Manzoni, Marta, Andria, Generoso, Ballabio, Andrea, Borsani, Giuseppe, Sebastio, Gianfranco

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Clinical aspects of cystathionine β-synthase deficiency: how wide is the spectrum? von De Franchis, R., Sperandeo, M. P., Sebastio, G., Andria, G.

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Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 von Melis, D, Perone, L, Sperandeo, M P, Sabbatino, M S, Tuzzi, M R, Romano, A, Parenti, G, Andria, G

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Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report von Sperandeo, Maria Pia, Buoninconti, Anna, Passariello, Annalisa, Scala, Iris, Adami, Andrea, Lauteala, Tuija, Mykkänen, Juha, Andria, Generoso, Sebastio, Gianfranco

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Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ‐synthase mutations von Sperandeo, M. P., Candito, M., Sebastio, G., Rolland, M. O., Turc‐Carel, C., Giudicelli, H., Dellamonica, P., Andria, G.

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Molecular analysis of patients affected by homocystinuria due to cystathionine β‐synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11 von Sperandeo, M. P., Panico, M., Pepe, A., Candito, M., Franchis, R., Kraus, J. P., Andria, G., Sebastio, G.

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