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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Incidence of ocular pathologies in Italian children with Down syndrome
Fimiani, F, Iovine, A, Carelli, R, Pansini, M, Sebastio, G, Magli, A
Published in European journal of ophthalmology (01.09.2007)
Published in European journal of ophthalmology (01.09.2007)
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Holt–Oram syndrome associated with anomalies of the feet
Garavelli, L., De Brasi, D., Verri, R., Guareschi, E., Cariola, F., Melis, D., Calcagno, G., Salvatore, F., Unger, S., Sebastio, G., Albertini, G., Rivieri, F., Soli, F., Superti‐Furga, A., Gentile, M.
Published in American journal of medical genetics. Part A (01.05.2008)
Published in American journal of medical genetics. Part A (01.05.2008)
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Elevated total plasma homocysteine and 677C-->T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease
de Franchis, R, Mancini, F P, D'Angelo, A, Sebastio, G, Fermo, I, de Stefano, V, Margaglione, M, Mazzola, G, di Minno, G, Andria, G
Published in American journal of human genetics (01.07.1996)
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Published in American journal of human genetics (01.07.1996)
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Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia
de Franchis, R, Fermo, I, Mazzola, G, Sebastio, G, Di Minno, G, Coppola, A, Andria, G, D'Angelo, A
Published in Thrombosis and haemostasis (01.10.2000)
Published in Thrombosis and haemostasis (01.10.2000)
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Spina bifida, 677T-->C mutation, and role of folate
de Franchis, R, Sebastio, G, Mandato, C, Andria, G, Mastroiacovo, P
Published in The Lancet (British edition) (23.12.1995)
Published in The Lancet (British edition) (23.12.1995)
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P-68 The GH-IGF axis in glycogen storage disease type 1 (GSD): Evidence of different growth patterns and IGF levels in patients with GSD1 A and GSD1 B
Pivonello, R, Melis, D, Parenti, G, Balivo, F, Della Casa, R, Salerno, M, Di Somma, C, Piccolo, P, Sebastio, G, Andria, G, Lombardi, G, Colao, A
Published in Growth hormone & IGF research (2008)
Published in Growth hormone & IGF research (2008)
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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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Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome
Mari, A, Amati, F, Mingarelli, R, Giannotti, A, Sebastio, G, Colloridi, V, Novelli, G, Dallapiccola, B
Published in Human genetics (01.10.1995)
Published in Human genetics (01.10.1995)
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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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Control of lactase in human adult-type hypolactasia and in weaning rabbits and rats
SEBATIO, G, VILLA, M, SARTORIO, R, GUZZETTA, V, POGGI, V, AURICCHIO, S, BOLL, W, MANTEI, N, SEMENZA, G
Published in American journal of human genetics (01.10.1989)
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Published in American journal of human genetics (01.10.1989)
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Isolation and Characterization of a Steroid Sulfatase cDNA Clone: Genomic Deletions in Patients with X-chromosome-Linked Ichthyosis
Ballabio, A., Parenti, G., Carrozzo, R., Sebastio, G., Andria, G., Buckle, V., Fraser, N., Craig, I., Rocchi, M., Romeo, G., Jobsis, A. C., Persico, M. G.
Published in Proceedings of the National Academy of Sciences - PNAS (01.07.1987)
Published in Proceedings of the National Academy of Sciences - PNAS (01.07.1987)
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Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene
Santamaria, R, Tamasi, S, Del Piano, G, Sebastio, G, Andria, G, Borrone, C, Faldella, G, Izzo, P, Salvatore, F
Published in Journal of medical genetics (01.09.1996)
Published in Journal of medical genetics (01.09.1996)
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Molecular analysis of aldolase B genes in hereditary fructose intolerance
Cross, N C, de Franchis, R, Sebastio, G, Dazzo, C, Tolan, D R, Gregori, C, Odievre, M, Vidailhet, M, Romano, V, Mascali, G
Published in The Lancet (British edition) (10.02.1990)
Published in The Lancet (British edition) (10.02.1990)
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Cloverleaf skull anomaly and de novo trisomy 4p
DE BRASI, D, PERONE, L, DI MICCO, P, ANDRIA, G, SEBASTIO, G, IACCARINO, E, PINTO, L, ALIBERTI, F
Published in Journal of medical genetics (01.05.1999)
Published in Journal of medical genetics (01.05.1999)
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Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene
Guzzetta, V., Bonapace, G., Dianzani, I., Parenti, G., Lecora, M., Giannattasio, S., Concolino, D., Strisciuglio, P., Sebastio, G., Andria, G.
Published in Journal of inherited metabolic disease (01.09.1997)
Published in Journal of inherited metabolic disease (01.09.1997)
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