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Results: 1-14 |
Results: 14
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
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
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation
Authors: Mainardi, PC Perfumo, C Cali, A Coucourde, G Pastore, G Cavani, S Zara, F Overhauser, J Pierluigi, M Bricarelli, FD
Citation: Pc. Mainardi et al., Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation, J MED GENET, 38(3), 2001, pp. 151-158
Benign familial infantile convulsions: Mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity
Authors: Malacarne, M Gennaro, E Madia, F Pozzi, S Vacca, D Barone, B dalla Bernardina, B Bianchi, A Bonanni, P De Marco, P Gambardella, A Giordano, L Lispi, ML Romeo, A Santorum, E Vanadia, F Vecchi, M Veggiotti, P Vigevano, F Viri, F Bricarelli, FD Zara, F
Citation: M. Malacarne et al., Benign familial infantile convulsions: Mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity, AM J HU GEN, 68(6), 2001, pp. 1521-1526
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
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia
Authors: Carbone, I Bruno, C Sotgia, F Bado, M Broda, P Masetti, E Panella, A Zara, F Bricarelli, FD Cordone, G Lisanti, MP Minetti, C
Citation: I. Carbone et al., Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia, NEUROLOGY, 54(6), 2000, pp. 1373-1376
The first three mosaic cri du chat syndrome patients with two rearranged cell lines
Authors: Perfumo, C Mainardi, PC Cali, A Coucourde, G Zara, F Cavani, S Overhauser, J Bricarelli, FD Pierluigi, M
Citation: C. Perfumo et al., The first three mosaic cri du chat syndrome patients with two rearranged cell lines, J MED GENET, 37(12), 2000, pp. 967-972
Caveolin-3 directly interacts with the C-terminal tail of beta-dystroglycan - Identification of a central WW-like domain within caveolin family members
Authors: Sotgia, F Lee, JK Das, K Bedford, M Petrucci, TC Macioce, P Sargiacomo, M Bricarelli, FD Minetti, C Sudol, M Lisanti, MP
Citation: F. Sotgia et al., Caveolin-3 directly interacts with the C-terminal tail of beta-dystroglycan - Identification of a central WW-like domain within caveolin family members, J BIOL CHEM, 275(48), 2000, pp. 38048-38058
Psychomotor development in Cri du Chat syndrome (vol 57, pg 461, 2000)
Authors: Mainardi, PC Guala, A Pastore, G Pozzo, G Bricarelli, FD Pierluigi, M
Citation: Pc. Mainardi et al., Psychomotor development in Cri du Chat syndrome (vol 57, pg 461, 2000), CLIN GENET, 58(2), 2000, pp. 156-156
Psychomotor development in Cri du Chat Syndrome
Authors: Mainardi, PC Guala, A Pastore, G Pozzo, G Bricarelli, FD Pierluigi, M
Citation: Pc. Mainardi et al., Psychomotor development in Cri du Chat Syndrome, CLIN GENET, 57(6), 2000, pp. 459-461
Mapping of a locus for a familial autosomal recessive idiopathic myoclonicepilepsy of infancy to chromosome 16p13
Authors: Zara, F Gennaro, E Stabile, M Carbone, I Malacarne, M Majello, L Santangelo, R de Falco, FA Bricarelli, FD
Citation: F. Zara et al., Mapping of a locus for a familial autosomal recessive idiopathic myoclonicepilepsy of infancy to chromosome 16p13, AM J HU GEN, 66(5), 2000, pp. 1552-1557
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
FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes
Authors: Giardino, D Bettio, D Gottardi, G Rizzi, N Pierluigi, M Perfumo, C Cali, A Bricarelli, FD Larizza, L
Citation: D. Giardino et al., FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes, AM J MED G, 84(4), 1999, pp. 377-380
No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1
Authors: Gennaro, E Malacarne, M Carbone, I Riggio, MC Bianchi, A Bonanni, P Boniver, C Dalla Bernardina, B De Marco, P Giordano, L Guerrini, R Santorum, E Sebastianelli, R Vecchi, M Veggiotti, P Vigevano, F Bricarelli, FD Zara, F
Citation: E. Gennaro et al., No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1, EPILEPSIA, 40(12), 1999, pp. 1799-1803
Risultati: 1-14 |