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A de novo G to T transversion in a pro-alpha 1(I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain 1-gen-1991 Valli, M.; Mottes, Monica; Tenni, R.; Sangalli, Antonella; Gomez, Maria Macarena; Rossi, A.; Antoniazzi, Franco; Cetta, G.; Pignatti, Pierfranco
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene 1-gen-1992 Mottes, Monica; Sangalli, Antonella; Valli, M.; Gomez, Maria Macarena; Tenni, R.; Buttitta, P.; Pignatti, Pierfranco; Cetta, G.
Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II Osteogenesis Imperfecta dramatically affects the mineralization of bone 1-gen-1994 COHEN SOLAL, L.; Zylberberg, L.; Sangalli, Antonella; Gomez, Maria Macarena; Mottes, Monica
A base substitution at IVS-19 3' splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta 1-gen-1994 Mottes, Monica; Sangalli, Antonella; Valli, M.; Forlino, A.; Gomez, Maria Macarena; Antoniazzi, Franco; CONSTANTINOU DELTAS, C. D.; Cetta, G.; Pignatti, Pierfranco
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.
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 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 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease 1-gen-1995 Gomez-Lira, M.; Perusi, C.; Brutti, N.; Farnetani, M. A.; Margollicci, M. A.; Rizzuto, N.; Pignatti, P. F.; Salviati, A.
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
Mutations associated with very late-onset metachromatic leukodystrophy. 1-gen-1999 Perusi, C.; Gomez, Maria Macarena; R. F., Duyff; H. C., Weinstein; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro
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
Myelin Oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy 1-gen-2000 Gomez, Maria Macarena; Marzari, M. G.; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro
High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia. 1-gen-2000 Gomez, Maria Macarena; Benetazzo, M. G.; Marzari, M. G.; Bombieri, Cristina; Belpinati, Francesca; Castellani, C.; Cavallini, G. C.; Mastella, G.; Pignatti, Pierfranco
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
Adult-onset MLD: A gene mutation with isolated polyneuropathy 1-gen-2000 Felice, K. J.; Gomez Lira, M.; Natowicz, M.; Grunnet, M. L.; Tsongalis, G. J.; Sima, A. A. F.; Kaplan, R. F.
CFTR and cationic trypsinogen gene mutations in idiopathic pancreatitis and neonatal hypertrypsinemia 1-gen-2001 Gomez, Maria Macarena; Patuzzo, Cristina; C., Castellani; Bovo, Paolo; Cavallini, Giorgio; G., Mastella; Pignatti, Pierfranco
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