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Results: 1-10 |
Results: 10
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease
Authors: Gomez-Lira, M Mottes, M Perusi, C Pignatti, PF Rizzuto, N Gatti, R Salviati, A
Citation: M. Gomez-lira et al., A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease, MOL CELL PR, 15(2), 2001, pp. 75-79
Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case
Authors: Parentin, F Sangalli, A Mottes, M Perissutti, P
Citation: F. Parentin et al., Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case, GR ARCH CL, 239(4), 2001, pp. 316-319
Osteogenesis imperfecta at the beginning of bone and joint decade
Authors: Primorac, D Rowe, DW Mottes, M Barisic, I Anticevic, D Mirandola, S Lira, MG Kalajzic, I Kusec, V Glorieux, FH
Citation: D. Primorac et al., Osteogenesis imperfecta at the beginning of bone and joint decade, CROAT MED J, 42(4), 2001, pp. 393-415
Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis imperfecta
Authors: Mirandola, S Pignatti, PF Mottes, M
Citation: S. Mirandola et al., Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis imperfecta, MOL CELL PR, 14(6), 2000, pp. 329-332
Association of CTR and COLIA1 alleles with BMD values in peri- and postmenopausal women
Authors: Braga, V Mottes, M Mirandola, S Lisi, V Malerba, G Sartori, L Bianchi, G Gatti, D Rossini, M Bianchini, D Adami, S
Citation: V. Braga et al., Association of CTR and COLIA1 alleles with BMD values in peri- and postmenopausal women, CALCIF TIS, 67(5), 2000, pp. 361-366
Brief clinical report - Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24
Authors: Floreani, A Molaro, M Mottes, M Sangalli, A Baragiotta, A Roda, A Naccarato, R Clementi, M
Citation: A. Floreani et al., Brief clinical report - Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24, AM J MED G, 95(5), 2000, pp. 450-453
Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of Italian families with Marfan syndrome
Authors: Mottes, M Mirandola, S Rigatelli, F Zolezzi, F Lisi, V Gordon, D Pignatti, PF
Citation: M. Mottes et al., Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of Italian families with Marfan syndrome, HUMAN HERED, 50(3), 2000, pp. 175-179
Two novel missense mutations causing adrenoleukodystrophy in Italian patients
Authors: Perusi, C Gomez-Lira, M Mottes, M Pignatti, PF Bertini, E Cappa, M Vigliani, MC Schiffer, D Rizzuto, N Salviati, A
Citation: C. Perusi et al., Two novel missense mutations causing adrenoleukodystrophy in Italian patients, MOL CELL PR, 13(3), 1999, pp. 179-182
A novel intragenic polymorphism within the COL1A1 locus which can be detected by TaqI restriction of amplified genomic DNA
Authors: Mirandola, S Pignatti, PF Mottes, M
Citation: S. Mirandola et al., A novel intragenic polymorphism within the COL1A1 locus which can be detected by TaqI restriction of amplified genomic DNA, MOL CELL PR, 13(3), 1999, pp. 243-245
Two novel frameshift mutations in the adrenoleukodystrophy gene in Italianpatients
Authors: Gomez-Lira, M Perusi, C Mottes, M Pignatti, PF Uziel, G Rizzuto, N Salviati, A
Citation: M. Gomez-lira et al., Two novel frameshift mutations in the adrenoleukodystrophy gene in Italianpatients, J NEUR SCI, 165(1), 1999, pp. 62-65
Risultati: 1-10 |