Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature
Garavelli, L., Zollino, M., Mainardi, P. Cerruti, Gurrieri, F., Rivieri, F., Soli, F., Verri, R., Albertini, E., Favaron, E., Zignani, M., Orteschi, D., Bianchi, P., Faravelli, F., Forzano, F., Seri, M., Wischmeijer, A., Turchetti, D., Pompilii, E., Gnoli, M., Cocchi, G., Mazzanti, L., Bergamaschi, R., De Brasi, D., Sperandeo, M.P., Mari, F., Uliana, V., Mostardini, R., Cecconi, M., Grasso, M, Sassi, S., Sebastio, G., Renieri, A., Silengo, M., Bernasconi, S., Wakamatsu, N., Neri, G.
Published in American journal of medical genetics. Part A (01.03.2009)
Published in American journal of medical genetics. Part A (01.03.2009)
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SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
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
Published in Nature genetics (01.03.1999)
Published in Nature genetics (01.03.1999)
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Cystathionine β-synthase mutations in homocystinuria
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
Published in Human mutation (1999)
Published in Human mutation (1999)
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Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance
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
Published in American journal of human genetics (01.01.2000)
Published in American journal of human genetics (01.01.2000)
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The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy
de Franchis, R, Buoninconti, A, Mandato, C, Pepe, A, Sperandeo, M P, Del Gado, R, Capra, V, Salvaggio, E, Andria, G, Mastroiacovo, P
Published in Journal of medical genetics (01.12.1998)
Published in Journal of medical genetics (01.12.1998)
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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
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
Published in American journal of human genetics (01.03.2000)
Published in American journal of human genetics (01.03.2000)
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Journal Article
The Gene Encoding a Cationic Amino Acid Transporter (SLC7A4) Maps to the Region Deleted in the Velocardiofacial Syndrome
Sperandeo, Maria Pia, Borsani, Giuseppe, Incerti, Barbara, Zollo, Massimo, Rossi, Elena, Zuffardi, Orsetta, Castaldo, Pasqualina, Taglialatela, Maurizio, Andria, Generoso, Sebastio, Gianfranco
Published in Genomics (San Diego, Calif.) (15.04.1998)
Published in Genomics (San Diego, Calif.) (15.04.1998)
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Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations
Sperandeo, M P, Candito, M, Sebastio, G, Rolland, M O, Turc-Carel, C, Giudicelli, H, Dellamonica, P, Andria, G
Published in Journal of inherited metabolic disease (01.01.1996)
Published in Journal of inherited metabolic disease (01.01.1996)
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The molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families, and report of four novel mutations
SEBASTIO, G, SPERANDEO, M. P, PANICO, M, DE FRANCHIS, R, KRAUS, J. P, ANDRIA, G
Published in American journal of human genetics (01.06.1995)
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Published in American journal of human genetics (01.06.1995)
Journal Article
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11
Sperandeo, M P, Panico, M, Pepe, A, Candito, M, de Franchis, R, Kraus, J P, Andria, G, Sebastio, G
Published in Journal of inherited metabolic disease (01.03.1995)
Published in Journal of inherited metabolic disease (01.03.1995)
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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
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
Published in Genomics (San Diego, Calif.) (01.12.1999)
Published in Genomics (San Diego, Calif.) (01.12.1999)
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Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1
Melis, D, Perone, L, Sperandeo, M P, Sabbatino, M S, Tuzzi, M R, Romano, A, Parenti, G, Andria, G
Published in Journal of medical genetics (01.12.1998)
Published in Journal of medical genetics (01.12.1998)
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Combined immunodeficiency phenotype associated with inappropriate spontaneous and activation‐induced apoptosis
PIGNATA, C., FIORE, M., SCOTESE, I., COSENTINI, E., SPERANDEO, M. P., TURCO, C., PETRELLA, A., NOTARANGELO, L., VENUTA, S.
Published in Clinical and experimental immunology (01.06.1997)
Published in Clinical and experimental immunology (01.06.1997)
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Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report
Sperandeo, Maria Pia, Buoninconti, Anna, Passariello, Annalisa, Scala, Iris, Adami, Andrea, Lauteala, Tuija, Mykkänen, Juha, Andria, Generoso, Sebastio, Gianfranco
Published in Prenatal diagnosis (01.08.1999)
Published in Prenatal diagnosis (01.08.1999)
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Arginine transport through system y+L in cultured human fibroblasts: normal phenotype of cells from LPI subjects
Dall'Asta, Valeria, Bussolati, Ovidio, Sala, Roberto, Rotoli, Bianca Maria, Sebastio, Gianfranco, Sperandeo, Maria Pia, Andria, Generoso, Gazzola, Gian C
Published in American Journal of Physiology: Cell Physiology (01.12.2000)
Published in American Journal of Physiology: Cell Physiology (01.12.2000)
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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
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
Published in European journal of human genetics : EJHG (08.12.1999)
Published in European journal of human genetics : EJHG (08.12.1999)
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Clinical aspects of cystathionine β-synthase deficiency: how wide is the spectrum?
De Franchis, R., Sperandeo, M. P., Sebastio, G., Andria, G.
Published in European journal of pediatrics (01.04.1998)
Published in European journal of pediatrics (01.04.1998)
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