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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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