Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients
Filocamo, Mirella, Mazzotti, Raffaella, Stroppiano, Marina, Seri, Marco, Giona, Fiorina, Parenti, Giancarlo, Regis, Stefano, Corsolini, Fabio, Zoboli, Stefania, Gatti, Rosanna
Published in Human mutation (01.09.2002)
Published in Human mutation (01.09.2002)
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Genotype/phenotype correlation in glycogen storage disease type 1b : a multicentre study and review of the literature
MELIS, Daniela, FULCERI, Rossella, BENEDETTI, Angelo, PARENTI, Giancarlo, MARCOLONGO, Paola, GATTI, Rosanna, PARINI, Rossella, RIVA, Enrica, DELLA CASA, Roberto, ZAMMARCHI, Enrico, ANDRIA, Generoso
Published in European journal of pediatrics (01.08.2005)
Published in European journal of pediatrics (01.08.2005)
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Journal Article
Genome Search in Celiac Disease
Greco, Luigi, Corazza, Gino, Babron, Marie-Claude, Clot, Fabienne, Fulchignoni-Lataud, Marie-Claude, Percopo, Selvaggia, Zavattari, Patrizia, Bouguerra, Faouzi, Dib, Colette, Tosi, Roberto, Troncone, Riccardo, Ventura, Alessandro, Mantavoni, Wilma, Magazzù, Giuseppe, Gatti, Rosanna, Lazzari, Rosanna, Giunta, Annamaria, Perri, Francesco, Iacono, Giuseppe, Cardi, Ettore, de Virgiliis, Stefano, Cataldo, Francesco, De Angelis, Gianluigi, Musumeci, Salvatore, Ferrari, Roberto, Balli, Fiorella, Bardella, Maria-Teresa, Volta, Umberto, Catassi, Carlo, Torre, Giuliano, Eliaou, Jean-François, Serre, Jean-Louis, Clerget-Darpoux, Françoise
Published in American journal of human genetics (01.03.1998)
Published in American journal of human genetics (01.03.1998)
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Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)
Gimelli, Giorgio, Giglio, Sabrina, Zuffardi, Orsetta, Alhonen, Leena, Suppola, Suvikki, Cusano, Roberto, Lo Nigro, Cristiana, Gatti, Rosanna, Ravazzolo, Roberto, Seri, Marco
Published in Human genetics (01.09.2002)
Published in Human genetics (01.09.2002)
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Early-onset Combined Methylmalonic Aciduria and Homocystinuria: Neuroradiologic Findings
Rossi, Andrea, Cerone, Roberto, Biancheri, Roberta, Gatti, Rosanna, Schiaffino, Maria Cristina, Fonda, Claudio, Zammarchi, Enrico, Tortori-Donati, Paolo
Published in American journal of neuroradiology (01.03.2001)
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Published in American journal of neuroradiology (01.03.2001)
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Conference Proceeding
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene
Filocamo, Mirella, Bonuccelli, Gloria, Corsolini, Fabio, Mazzotti, Raffaella, Cusano, Roberto, Gatti, Rosanna
Published in Human mutation (01.08.2001)
Published in Human mutation (01.08.2001)
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Journal Article
Fucosidosis revisited: a review of 77 patients
Willems, P J, Gatti, R, Darby, J K, Romeo, G, Durand, P, Dumon, J E, O'Brien, J S
Published in American journal of medical genetics (01.01.1991)
Published in American journal of medical genetics (01.01.1991)
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Journal Article
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c
Galli, Lucia, Orrico, Alfredo, Marcolongo, Paola, Fulceri, Rosella, Burchell, Ann, Melis, Daniela, Parini, Rossella, Gatti, Rosanna, Lam, Ching-Wan, Benedetti, Angelo, Sorrentino, Vincenzo
Published in FEBS letters (08.10.1999)
Published in FEBS letters (08.10.1999)
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Journal Article
Expression studies of two novel in CIS‐mutations identified in an intermediate case of Hunter syndrome
Ricci, Verena, Filocamo, Mirella, Regis, Stefano, Corsolini, Fabio, Stroppiano, Marina, Duca, Marco Di, Gatti, Rosanna
Published in American journal of medical genetics. Part A (01.07.2003)
Published in American journal of medical genetics. Part A (01.07.2003)
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Journal Article
Severity of Bone Marrow Involvement in Patients with Gaucher's Disease Evaluated by Scintigraphy with 99mTc-Sestamibi
Mariani, Giuliano, Filocamo, Mirella, Giona, Fiorina, Villa, Giuseppe, Amendola, Angela, Erba, Paola, Buffoni, Ferdinando, Copello, Francesco, Pierini, Anna, Minichilli, Fabrizio, Gatti, Rosanna, Brady, Roscoe O
Published in The Journal of nuclear medicine (1978) (01.08.2003)
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Published in The Journal of nuclear medicine (1978) (01.08.2003)
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Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR
Regis, Stefano, Filocamo, Mirella, Mazzotti, Raffaella, Cusano, Roberto, Corsolini, Fabio, Bonuccelli, Gloria, Stroppiano, Marina, Gatti, Rosanna
Published in Prenatal diagnosis (01.08.2001)
Published in Prenatal diagnosis (01.08.2001)
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Journal Article
Gene dosage of the spermidine/spermine N1-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)
GIMELLI, Giorgio, GIGLIO, Sabrina, ZUFFARDI, Orsetta, ALHONEN, Leena, SUPPOLA, Suvikki, CUSANO, Roberto, LO NIGRO, Cristiana, GATTI, Rosanna, RAVAZZOLO, Roberto, SERI, Marco
Published in Human genetics (01.09.2002)
Published in Human genetics (01.09.2002)
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Journal Article
Gene dosage of the spermidine/spermine N super(1)-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)
Gimelli, Giorgio, Giglio, Sabrina, Zuffardi, Orsetta, Alhonen, Leena, Suppola, Suvikki, Cusano, Roberto, Lo Nigro, Cristiana, Gatti, Rosanna, Ravazzolo, Roberto, Seri, Marco
Published in Human genetics (01.09.2002)
Published in Human genetics (01.09.2002)
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Journal Article
Identification of a Novel Recombinant Allele in Three Unrelated Italian Gaucher Patients: Implications for Prognosis and Genetic Counseling
Filocamo, Mirella, Bonuccelli, Gloria, Mazzotti, Raffaella, Giona, Fiorina, Gatti, Rosanna
Published in Blood cells, molecules, & diseases (01.08.2000)
Published in Blood cells, molecules, & diseases (01.08.2000)
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Journal Article
Somatic Mosaicism in a Patient with Gaucher Disease Type 2: Implication for Genetic Counseling and Therapeutic Decision-Making
Filocamo, Mirella, Bonuccelli, Gloria, Mazzotti, Raffaella, Corsolini, Fabio, Stroppiano, Marina, Regis, Stefano, Gatti, Rosanna
Published in Blood cells, molecules, & diseases (01.12.2000)
Published in Blood cells, molecules, & diseases (01.12.2000)
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Journal Article
Jagged-1 mutation analysis in Italian Alagille syndrome patients
Pilia, Giuseppe, Uda, Manuela, Macis, Dolores, Frau, Fulvia, Crisponi, Laura, Balli, Fiorella, Barbera, Cristiana, Colombo, Carla, Frediani, Tullio, Gatti, Rosanna, Iorio, Raffaele, Marazzi, M. Grazia, Marcellini, Matilde, Musumeci, Salvatore, Nebbia, Gabriella, Vajro, Pietro, Ruffa, Giuseppe, Zancan, Lucia, Cao, Antonio, DeVirgilis, Stefano
Published in Human mutation (01.01.1999)
Published in Human mutation (01.01.1999)
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An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity
Regis, S, Filocamo, M, Corsolini, F, Caroli, F, Keulemans, J L, van Diggelen, O P, Gatti, R
Published in European journal of human genetics : EJHG (01.02.1999)
Published in European journal of human genetics : EJHG (01.02.1999)
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