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Results: 1-10 |
Results: 10
Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR
Authors: Regis, S Filocamo, M Mazzotti, R Cusano, R Corsolini, F Bonuccelli, G Stroppiano, M Gatti, R
Citation: S. Regis et al., Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR, PRENAT DIAG, 21(8), 2001, pp. 668-671
Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): Molecular identification of a novel IVS9 (+2GT -> GC) in combination with rare IVS10 (+1GT -> CT)
Authors: Stroppiano, M Bonuccelli, G Corsolini, F Filocamo, M
Citation: M. Stroppiano et al., Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): Molecular identification of a novel IVS9 (+2GT -> GC) in combination with rare IVS10 (+1GT -> CT), AM J MED G, 101(1), 2001, pp. 55-58
Somatic mosaicism in a patient with Gaucher disease type 2: Implication for genetic counseling and therapeutic decision-making
Authors: Filocamo, M Bonuccelli, G Mazzotti, R Corsolini, F Stroppiano, M Regis, S Gatti, R
Citation: M. Filocamo et al., Somatic mosaicism in a patient with Gaucher disease type 2: Implication for genetic counseling and therapeutic decision-making, BL CELL M D, 26(6), 2000, pp. 611-612
Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: Implications for prognosis and genetic counseling
Authors: Filocamo, M Bonuccelli, G Mazzotti, R Giona, F Gatti, R
Citation: M. Filocamo et al., Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: Implications for prognosis and genetic counseling, BL CELL M D, 26(4), 2000, pp. 307-311
Functional characterization of the novel mutation IVS 8 (-11delC) (-14T > A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I
Authors: Romano, M Danek, GM Baralle, FE Mazzotti, R Filocamo, M
Citation: M. Romano et al., Functional characterization of the novel mutation IVS 8 (-11delC) (-14T > A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I, BL CELL M D, 26(3), 2000, pp. 171-176
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
Authors: Tessitore, A Villani, GRD Di Domenico, C Filocamo, M Gatti, R Di Natale, P
Citation: A. Tessitore et al., Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients, HUM GENET, 107(6), 2000, pp. 568-576
Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease
Authors: Selleri, S Torchiana, E Pareyson, D Lulli, L Bertagnolio, B Savoiardo, M Farina, L Carrara, F Filocamo, M Gatti, R Sghirlanzoni, A Uziel, G Finocchiaro, G
Citation: S. Selleri et al., Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease, J NEUROL, 247(11), 2000, pp. 875-877
Evidence for a founder effect in Sicilian patients with glycogen storage disease type II
Authors: Dagnino, F Stroppiano, M Regis, S Bonuccelli, G Filocamo, M
Citation: F. Dagnino et al., Evidence for a founder effect in Sicilian patients with glycogen storage disease type II, HUMAN HERED, 50(6), 2000, pp. 331-333
An Asn -> Lys substitution in saposin B involving a conserved amino acidicresidue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity
Authors: Regis, S Filocamo, M Corsolini, F Caroli, F Keulemans, JLM van Diggelen, OP Gatti, R
Citation: S. Regis et al., An Asn -> Lys substitution in saposin B involving a conserved amino acidicresidue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity, EUR J HUM G, 7(2), 1999, pp. 125-130
Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele
Authors: Di Natale, P Villani, GRD Esposito, S Balzano, V Filocamo, M Gatti, R
Citation: P. Di Natale et al., Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele, PRENAT DIAG, 19(10), 1999, pp. 993-994
Risultati: 1-10 |