Sfoglia per Autore
Variant Philadelphia translocations in CML: correlation with fragile sites.
1988-01-01 Sessarego, Mario; R., Defferrari; C., Panarello; F., Frassoni; Mandich, Paola; Ajmar, Franco
DNA marker analysis of adult polycystic kidney disease in Italian families. Italian Cooperative Group on ADPKD.
1989-01-01 L., Potenza; Mandich, Paola; G., Restagno; Bellone, Emilia; G., Novelli; B., Dallapiccola; Ajmar, Franco; A., Carbonara
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease.
1990-01-01 Mandich, Paola; G., Restagno; G., Novelli; Bellone, Emilia; L., Potenza; O., Varetto; B., Dallapiccola; A., Carbonara; Ajmar, Franco
[Specific enzymatic amplification of a DNA region closely associated with Huntington chorea].
1990-01-01 G., Novelli; Mandich, Paola; A., Ruzzo; F., Mannello; Ajmar, Franco; B., Dallapiccola
Genetic analysis of Huntington disease in Italy.
1991-01-01 Ajmar, Franco; Mandich, Paola; Bellone, Emilia; Abbruzzese, Giovanni
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers.
1991-01-01 Bellone, Emilia; Mandich, Paola; P., Costa; L., Dalerba; Ajmar, Franco
Non-random association between DNA markers and Huntington disease locus in the Italian population.
1991-01-01 A., Novelletto; Mandich, Paola; Bellone, Emilia; P., Malaspina; G., Vivona; Ajmar, Franco; M., Frontali
Polymerase chain reaction (PCR) amplification of hypervariable genomic sequences.
1991-01-01 Mandich, Paola; Bellone, Emilia; A., Massari; Ajmar, Franco
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus.
1992-01-01 Mandich, Paola; Bellone, Emilia; Uccelli, Antonio; D., Pareyson; Ajmar, Franco
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.
1993-01-01 Dallapiccola, B.; Mandich, Paola; Bellone, Emilia; Selicorni, A.; Mokin, V.; Ajmar, Franco; Novelli, G.
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1
1994-01-01 Mancardi, G. L.; Uccelli, A.; Bellone, E.; Sghirlanzoni, A.; Mandich, P.; Pareyson, D.; Schenone, A.; Abbruzzese, M.; Ajmar, F.
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.
1994-01-01 A., Novelletto; F., Persichetti; G., Sabbadini; Mandich, Paola; Bellone, Emilia; Ajmar, Franco; F., Squitieri; G., Campanella; A., Bozza; M. E., Macdonald
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease
1994-01-01 Novelletto, A.; Persichetti, F.; Sabbadini, G.; Mandich, Paola; Bellone, Emilia; Ajmar, Franco; Pergola, M.; DEL SENNO, L.; MAC DONALD, M.; Gusella, J.; Frontali, M.
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12.
1994-01-01 Mandich, Paola; Schito, A. M.; Bellone, Emilia; Antonacci, R.; Finelli, P.; Rocchi, M.; Ajmar, Franco
Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding
1995-01-01 James, R.; Bellone, Emilia; Nelis, E.; Mandich, Paola; Schenone, Angelo; Mancardi, GIOVANNI LUIGI; VAN BROECHKOVEN, C.; Abbruzzese, Michele; Ajmar, Franco
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.
1995-01-01 Mandich, Paola; R., James; S., Nassani; R., Defferrari; Bellone, Emilia; Mancardi, GIOVANNI LUIGI; Schenone, Angelo; Abbruzzese, Michele; M., Rocchi; Ajmar, Franco
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion.
1995-01-01 Mancardi, GIOVANNI LUIGI; Mandich, Paola; Nassani, S.; Schenone, Angelo; James, R.; Defferrari, R.; Bellone, Emilia; Giunchedi, M.; Ajmar, Franco; Abbruzzese, Michele
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease.
1996-01-01 Mandich, Paola; DI MARIA, Emilio; Bellone, Emilia; Ajmar, Franco; Abbruzzese, Giovanni
Identification of a 4 bp (1560del4) in P0 gene in a family with severe Charcot-Marie-Tooth disease.
1996-01-01 Bellone, Emilia; James, R.; Mandich, Paola; Nelis, E; DORIA LAMBA, L; VAN BROECHKOVEN, C; Ajmar, Franco
De novo duplication in Charcot-Marie Tooth type 1A.
1996-01-01 Mandich, Paola; Bellone, Emilia; Schenone, Angelo; Mancardi, GIOVANNI LUIGI; Abbruzzese, Michele; Ajmar, Franco
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Variant Philadelphia translocations in CML: correlation with fragile sites. | 1-gen-1988 | Sessarego, Mario; R., Defferrari; C., Panarello; F., Frassoni; Mandich, Paola; Ajmar, Franco | |
DNA marker analysis of adult polycystic kidney disease in Italian families. Italian Cooperative Group on ADPKD. | 1-gen-1989 | L., Potenza; Mandich, Paola; G., Restagno; Bellone, Emilia; G., Novelli; B., Dallapiccola; Ajmar, Franco; A., Carbonara | |
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. | 1-gen-1990 | Mandich, Paola; G., Restagno; G., Novelli; Bellone, Emilia; L., Potenza; O., Varetto; B., Dallapiccola; A., Carbonara; Ajmar, Franco | |
[Specific enzymatic amplification of a DNA region closely associated with Huntington chorea]. | 1-gen-1990 | G., Novelli; Mandich, Paola; A., Ruzzo; F., Mannello; Ajmar, Franco; B., Dallapiccola | |
Genetic analysis of Huntington disease in Italy. | 1-gen-1991 | Ajmar, Franco; Mandich, Paola; Bellone, Emilia; Abbruzzese, Giovanni | |
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers. | 1-gen-1991 | Bellone, Emilia; Mandich, Paola; P., Costa; L., Dalerba; Ajmar, Franco | |
Non-random association between DNA markers and Huntington disease locus in the Italian population. | 1-gen-1991 | A., Novelletto; Mandich, Paola; Bellone, Emilia; P., Malaspina; G., Vivona; Ajmar, Franco; M., Frontali | |
Polymerase chain reaction (PCR) amplification of hypervariable genomic sequences. | 1-gen-1991 | Mandich, Paola; Bellone, Emilia; A., Massari; Ajmar, Franco | |
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus. | 1-gen-1992 | Mandich, Paola; Bellone, Emilia; Uccelli, Antonio; D., Pareyson; Ajmar, Franco | |
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. | 1-gen-1993 | Dallapiccola, B.; Mandich, Paola; Bellone, Emilia; Selicorni, A.; Mokin, V.; Ajmar, Franco; Novelli, G. | |
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 | 1-gen-1994 | Mancardi, G. L.; Uccelli, A.; Bellone, E.; Sghirlanzoni, A.; Mandich, P.; Pareyson, D.; Schenone, A.; Abbruzzese, M.; Ajmar, F. | |
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. | 1-gen-1994 | A., Novelletto; F., Persichetti; G., Sabbadini; Mandich, Paola; Bellone, Emilia; Ajmar, Franco; F., Squitieri; G., Campanella; A., Bozza; M. E., Macdonald | |
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease | 1-gen-1994 | Novelletto, A.; Persichetti, F.; Sabbadini, G.; Mandich, Paola; Bellone, Emilia; Ajmar, Franco; Pergola, M.; DEL SENNO, L.; MAC DONALD, M.; Gusella, J.; Frontali, M. | |
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. | 1-gen-1994 | Mandich, Paola; Schito, A. M.; Bellone, Emilia; Antonacci, R.; Finelli, P.; Rocchi, M.; Ajmar, Franco | |
Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding | 1-gen-1995 | James, R.; Bellone, Emilia; Nelis, E.; Mandich, Paola; Schenone, Angelo; Mancardi, GIOVANNI LUIGI; VAN BROECHKOVEN, C.; Abbruzzese, Michele; Ajmar, Franco | |
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. | 1-gen-1995 | Mandich, Paola; R., James; S., Nassani; R., Defferrari; Bellone, Emilia; Mancardi, GIOVANNI LUIGI; Schenone, Angelo; Abbruzzese, Michele; M., Rocchi; Ajmar, Franco | |
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. | 1-gen-1995 | Mancardi, GIOVANNI LUIGI; Mandich, Paola; Nassani, S.; Schenone, Angelo; James, R.; Defferrari, R.; Bellone, Emilia; Giunchedi, M.; Ajmar, Franco; Abbruzzese, Michele | |
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. | 1-gen-1996 | Mandich, Paola; DI MARIA, Emilio; Bellone, Emilia; Ajmar, Franco; Abbruzzese, Giovanni | |
Identification of a 4 bp (1560del4) in P0 gene in a family with severe Charcot-Marie-Tooth disease. | 1-gen-1996 | Bellone, Emilia; James, R.; Mandich, Paola; Nelis, E; DORIA LAMBA, L; VAN BROECHKOVEN, C; Ajmar, Franco | |
De novo duplication in Charcot-Marie Tooth type 1A. | 1-gen-1996 | Mandich, Paola; Bellone, Emilia; Schenone, Angelo; Mancardi, GIOVANNI LUIGI; Abbruzzese, Michele; Ajmar, Franco |
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