Sfoglia per Autore
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix
1994-01-01 A., Forlino; F., Zolezzi; M., Valli; Pignatti, Pierfranco; G., Cetta; P. C., Brunelli; Mottes, Monica
Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation
1994-01-01 Gomez-Lira, M.; Sangalli, A.; Pignatti, P. F.; Digilio, M. C.; Giannotti, A.; Carnevale, E.; Mottes, M.
A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta
1994-01-01 Mottes, M.; Sangalli, A.; Valli, M.; Forlino, A.; Gomez-Lira, M.; Antoniazzi, F.; Constantinou-Deltas, C. D.; Cetta, G.; Pignatti, P. F.
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
1995-01-01 Gomez, Maria Macarena; Sangalli, Antonella; Mottes, Monica; Perusi, C; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro
A 931 +2T-C transition in one COL1A2 allele causes exon 16 skipping in pro alpha 2(I) mRNA and produces moderately severe OI
1995-01-01 Zolezzi, F.; Forlino, A.; Mottes, M.; Valli, M.; Sensi, A.; Calzolari, E.; Pignatti, P. F.; Cetta, G.
Intarfamilial variable expressivity of osteogenesis imperfecta due to mosaicism for a lethal G382R substitution in the COL1A1 gene
1996-01-01 COHEN SOLAL, L; Zolezzi, F; Pignatti, Pierfranco; Mottes, Monica
Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis
1996-01-01 Antoniazzi, F.; Bertoldo, F.; Mottes, M.; Valli, M.; Sirpresi, S.; Zamboni, G.; Valentini, R.; Tatò, L.
Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability
1997-01-01 Zolezzi, F.; Valli, M.; Clementi, M.; Mammi, I.; Cetta, G; Pignatti, Pierfranco; Mottes, Monica
A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene
1997-01-01 C., Perusi; Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro
Splicing mutation causes infantile Sandhoff disease
1998-01-01 Gomez, Maria Macarena; Perusi, C; Mottes, Monica; Pignatti, Pierfranco; Rizzuto, Nicolo'; Gatti, R.; Salviati, Alessandro
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation acid show different phenotypes; description of a novel null-type mutation (Human Genetics (1998) 102 (459-463))
1998-01-01 Gomez, Maria Macarena; C., Perusi; Mottes, Monica; Pignatti, Pierfranco; M., Manfredi; Rizzuto, Nicolo'; Salviati, Alessandro
Four new cases of lethal Osteogenesis Imperfecta due to glycine substitutions in the COL1A1 and COL1A2 genes
1998-01-01 Mottes, Monica; Gomez, Maria Macarena; F., Zolezzi; M., Valli; Lisi, Veronica; P., Freisinger
Two novel missense mutations causing adrenoleukodystrophy in Italian patients
1999-01-01 Perusi, C; Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Bertini, E; Cappa, M; Vigliani, Mc; Schiffer, D; Rizzuto, Nicolo'; Salviati, Alessandro
Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients
1999-01-01 Gomez, Maria Macarena; C., Perusi; Mottes, Monica; Pignatti, Pierfranco; G., Uziel; Rizzuto, Nicolo'; Salviati, Alessandro
A novel intragenic polymorphism within the COL1A1 locus which can be detected by Taq I restriction of amplified genomic DNA
1999-01-01 S., Mirandola; Pignatti, Pierfranco; Mottes, Monica
Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta
2000-01-01 Mirandola, S.; Pignatti, Pierfranco; Mottes, Monica
Osteogenesis Imperfecta: Practical treatment guidelines
2000-01-01 Antoniazzi, F.; Mottes, M.; Fraschini, P.; Brunelli, P. C.; Tato, L.
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations
2000-01-01 Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Medica, I.; Uziel, G.; Cappa, M.; Bertini, E.; Rizzuto, Nicolo'; Salviati, Alessandro
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24
2000-01-01 Floreani, A.; Molaro, M.; Mottes, M.; Sangalli, A.; Baragiotta, A.; Roda, A.; Naccarato, R.; Clementi, M.
Association of CTR and COLIA1 alleles with BMD values in peri and postmenopausal women
2000-01-01 Braga, V; Mottes, Monica; Mirandola, S; Lisi, Veronica; Malerba, Giovanni; Sartori, L; Bianchi, G; Gatti, Davide; Rossini, Maurizio; Bianchini, D; Adami, Silvano
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix | 1-gen-1994 | A., Forlino; F., Zolezzi; M., Valli; Pignatti, Pierfranco; G., Cetta; P. C., Brunelli; Mottes, Monica | |
| Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation | 1-gen-1994 | Gomez-Lira, M.; Sangalli, A.; Pignatti, P. F.; Digilio, M. C.; Giannotti, A.; Carnevale, E.; Mottes, M. | |
| A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta | 1-gen-1994 | Mottes, M.; Sangalli, A.; Valli, M.; Forlino, A.; Gomez-Lira, M.; Antoniazzi, F.; Constantinou-Deltas, C. D.; Cetta, G.; Pignatti, P. F. | |
| A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. | 1-gen-1995 | Gomez, Maria Macarena; Sangalli, Antonella; Mottes, Monica; Perusi, C; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro | |
| A 931 +2T-C transition in one COL1A2 allele causes exon 16 skipping in pro alpha 2(I) mRNA and produces moderately severe OI | 1-gen-1995 | Zolezzi, F.; Forlino, A.; Mottes, M.; Valli, M.; Sensi, A.; Calzolari, E.; Pignatti, P. F.; Cetta, G. | |
| Intarfamilial variable expressivity of osteogenesis imperfecta due to mosaicism for a lethal G382R substitution in the COL1A1 gene | 1-gen-1996 | COHEN SOLAL, L; Zolezzi, F; Pignatti, Pierfranco; Mottes, Monica | |
| Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis | 1-gen-1996 | Antoniazzi, F.; Bertoldo, F.; Mottes, M.; Valli, M.; Sirpresi, S.; Zamboni, G.; Valentini, R.; Tatò, L. | |
| Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability | 1-gen-1997 | Zolezzi, F.; Valli, M.; Clementi, M.; Mammi, I.; Cetta, G; Pignatti, Pierfranco; Mottes, Monica | |
| A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene | 1-gen-1997 | C., Perusi; Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro | |
| Splicing mutation causes infantile Sandhoff disease | 1-gen-1998 | Gomez, Maria Macarena; Perusi, C; Mottes, Monica; Pignatti, Pierfranco; Rizzuto, Nicolo'; Gatti, R.; Salviati, Alessandro | |
| Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation acid show different phenotypes; description of a novel null-type mutation (Human Genetics (1998) 102 (459-463)) | 1-gen-1998 | Gomez, Maria Macarena; C., Perusi; Mottes, Monica; Pignatti, Pierfranco; M., Manfredi; Rizzuto, Nicolo'; Salviati, Alessandro | |
| Four new cases of lethal Osteogenesis Imperfecta due to glycine substitutions in the COL1A1 and COL1A2 genes | 1-gen-1998 | Mottes, Monica; Gomez, Maria Macarena; F., Zolezzi; M., Valli; Lisi, Veronica; P., Freisinger | |
| Two novel missense mutations causing adrenoleukodystrophy in Italian patients | 1-gen-1999 | Perusi, C; Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Bertini, E; Cappa, M; Vigliani, Mc; Schiffer, D; Rizzuto, Nicolo'; Salviati, Alessandro | |
| Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients | 1-gen-1999 | Gomez, Maria Macarena; C., Perusi; Mottes, Monica; Pignatti, Pierfranco; G., Uziel; Rizzuto, Nicolo'; Salviati, Alessandro | |
| A novel intragenic polymorphism within the COL1A1 locus which can be detected by Taq I restriction of amplified genomic DNA | 1-gen-1999 | S., Mirandola; Pignatti, Pierfranco; Mottes, Monica | |
| Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta | 1-gen-2000 | Mirandola, S.; Pignatti, Pierfranco; Mottes, Monica | |
| Osteogenesis Imperfecta: Practical treatment guidelines | 1-gen-2000 | Antoniazzi, F.; Mottes, M.; Fraschini, P.; Brunelli, P. C.; Tato, L. | |
| Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations | 1-gen-2000 | Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Medica, I.; Uziel, G.; Cappa, M.; Bertini, E.; Rizzuto, Nicolo'; Salviati, Alessandro | |
| Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24 | 1-gen-2000 | Floreani, A.; Molaro, M.; Mottes, M.; Sangalli, A.; Baragiotta, A.; Roda, A.; Naccarato, R.; Clementi, M. | |
| Association of CTR and COLIA1 alleles with BMD values in peri and postmenopausal women | 1-gen-2000 | Braga, V; Mottes, Monica; Mirandola, S; Lisi, Veronica; Malerba, Giovanni; Sartori, L; Bianchi, G; Gatti, Davide; Rossini, Maurizio; Bianchini, D; Adami, Silvano |
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