AAAAAA

   
Results: 1-8 |
Results: 8
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
Authors: Wildin, RS Ramsdell, F Peake, J Faravelli, F Casanova, JL Buist, N Levy-Lahad, E Mazzella, M Goulet, O Perroni, L Bricarelli, FD Byrne, G McEuen, M Proll, S Appleby, M Brunkow, ME
Citation: Rs. Wildin et al., X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy, NAT GENET, 27(1), 2001, pp. 18-20
Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings
Authors: Faravelli, F Di Rocco, M Stella, G Selicorni, A Camera, G
Citation: F. Faravelli et al., Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings, CLIN DYSMOR, 10(2), 2001, pp. 101-103
Liver iron accumulation in chronic hepatitis C patients without HFE mutations: relationships with histological damage, viral load and genotype and alpha-glutathione S-transferase levels
Authors: Giannini, E Mastracci, L Botta, F Romagnoli, P Fasoli, A Risso, D Faravelli, F Ceppa, P Lantieri, PB Icardi, GC Testa, R
Citation: E. Giannini et al., Liver iron accumulation in chronic hepatitis C patients without HFE mutations: relationships with histological damage, viral load and genotype and alpha-glutathione S-transferase levels, EUR J GASTR, 13(11), 2001, pp. 1355-1361
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
Authors: Rossi, E Piccini, F Zollino, M Neri, G Caselli, D Tenconi, R Castellan, C Carrozzo, R Danesino, C Zuffardi, O Ragusa, A Castiglia, L Galesi, O Greco, D Romano, C Pierluigi, M Perfumo, C Di Rocco, M Faravelli, F Bricarelli, FD Bonaglia, M Bedeschi, M Borgatti, R
Citation: E. Rossi et al., Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations, J MED GENET, 38(6), 2001, pp. 417-420
FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother
Authors: Lo Nigro, C Faravelli, F Cavani, S Perroni, L Novello, P Vitali, M Bricarelli, FD Grasso, M
Citation: C. Lo Nigro et al., FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother, EUR J HUM G, 8(3), 2000, pp. 157-162
Malpuech syndrome: A possible relationship with the Wolf-Hirschhorn/Pitt-Roger-Danks phenotype
Authors: Selicorni, A Faravelli, F
Citation: A. Selicorni et F. Faravelli, Malpuech syndrome: A possible relationship with the Wolf-Hirschhorn/Pitt-Roger-Danks phenotype, AM J MED G, 95(3), 2000, pp. 291-291
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients
Authors: Grasso, M Faravelli, F Lo Nigro, C Chiurazzi, P Sperandeo, MP Argusti, A Pomponi, MG Lecora, M Sebastio, GF Perroni, L Andria, G Neri, G Bricarelli, FD
Citation: M. Grasso et al., Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients, AM J MED G, 85(3), 1999, pp. 311-316
Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features
Authors: Faravelli, F Upadhyaya, M Osborn, M Huson, SM Hayward, R Winter, R
Citation: F. Faravelli et al., Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features, J MED GENET, 36(12), 1999, pp. 893-896
Risultati: 1-8 |