Results: 1-25 | 26-48
Results: 1-25/48

Authors: Persico, AM D'Agruma, L Maiorano, N Totaro, A Militerni, R Bravaccio, C Wassink, TH Schneider, C Melmed, R Trillo, S Montecchi, F Palermo, M Pascucci, T Puglisi-Allegra, S Reichelt, KL Conciatori, M Marino, R Quattrocchi, CC Baldi, A Zelante, L Gasparini, P Keller, F
Citation: Am. Persico et al., Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder, MOL PSYCHI, 6(2), 2001, pp. 150-159

Authors: Crisponi, L Deiana, M Loi, A Chiappe, F Uda, M Amati, P Bisceglia, L Zelante, L Nagaraja, R Porcu, S Ristaldi, MS Marzella, R Rocchi, M Nicolino, M Lienhardt-Roussie, A Nivelon, A Verloes, A Schlessinger, D Gasparini, P Bonneau, D Cao, A Pilia, G
Citation: L. Crisponi et al., The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome, NAT GENET, 27(2), 2001, pp. 159-166

Authors: Nicolao, P Carella, M Giometto, B Tavolato, B Cattin, R Giovannucci-Uzielli, ML Vacca, M Della Regione, F Piva, S Bortoluzzi, S Gasparini, P
Citation: P. Nicolao et al., DHPLC analysis of the MECP2 gene in Italian Rett patients, HUM MUTAT, 18(2), 2001, pp. 132-140

Authors: Lopez-Bigas, N Olive, M Rabionet, R Ben-David, O Martinez-Matos, JA Bravo, O Banchs, I Volpini, V Gasparini, P Avraham, KB Ferrer, I Arbones, ML Estivill, X
Citation: N. Lopez-bigas et al., Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment, HUM MOL GEN, 10(9), 2001, pp. 947-952

Authors: Font, M Feliubadalo, L Estivill, X Nunes, V Golomb, E Kreiss, Y Pras, E Bisceglia, L d'Adamo, AP Zelante, L Gasparini, P Bassi, MT George, AL Manzoni, M Riboni, M Ballabio, A Borsani, G Reig, N Fernandez, E Zorzano, A Bertran, J Palacin, M
Citation: M. Font et al., Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria, HUM MOL GEN, 10(4), 2001, pp. 305-316

Authors: Bisceglia, L Purroy, J Jimenez-Vidal, M d'Adamo, AP Rousaud, F Beccia, E Penza, R Rizzoni, G Gallucci, M Palacin, M Gasparini, P Nunes, V Zelante, L
Citation: L. Bisceglia et al., Cystinuria type I: Identification of eight new mutations in SLC3A1, KIDNEY INT, 59(4), 2001, pp. 1250-1256

Authors: Auger, E Gasparini, P Virieux, J Zollo, A
Citation: E. Auger et al., Seismic evidence of an extended magmatic sill under Mt. Vesuvius, SCIENCE, 294(5546), 2001, pp. 1510-1512

Authors: Montosi, G Donovan, A Totaro, A Garuti, C Pignatti, E Cassanelli, S Trenor, CC Gasparini, P Andrews, NC Pietrangelo, A
Citation: G. Montosi et al., Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene, J CLIN INV, 108(4), 2001, pp. 619-623

Authors: Roetto, A Totaro, A Piperno, A Piga, A Longo, F Garozzo, G Cali, A De Gobbi, M Gasparini, P Camaschella, C
Citation: A. Roetto et al., New mutations inactivating transferrin receptor 2 in hemochromatosis type 3, BLOOD, 97(9), 2001, pp. 2555-2560

Authors: Greco, L Babron, MC Corazza, GR Percopo, S Sica, R Clot, F Fulchignoni-Lataud, MC Zavattari, P Momigliano-Richiardi, P Casari, G Gasparini, P Tosi, R Mantovani, V De Virgiliis, S Iacono, G D'Alfonso, A Selinger-Leneman, H Lemainque, A Serre, JL Clerget-Darpoux, F
Citation: L. Greco et al., Existence of a genetic risk factor on chromosome 5q in Italian Coeliac Disease families, ANN HUM GEN, 65, 2001, pp. 35-41

Authors: Joensuu, T Hamalainen, R Yuan, B Johnson, C Tegelberg, S Gasparini, P Zelante, L Pirvola, U Pakarinen, L Lehesjoki, AE de la Chapelle, A Sankila, EM
Citation: T. Joensuu et al., Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3, AM J HU GEN, 69(4), 2001, pp. 673-684

Authors: Melchionda, S Ahituv, N Bisceglia, L Sobe, T Glaser, F Rabionet, R Arbones, ML Notarangelo, A Di Iorio, E Carella, M Zelante, L Estivill, X Avraham, KB Gasparini, P
Citation: S. Melchionda et al., MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss, AM J HU GEN, 69(3), 2001, pp. 635-640

Authors: Roetto, A Alberti, F Daraio, F Cali, A Cazzola, M Totaro, A Gasparini, P Camaschella, C
Citation: A. Roetto et al., Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21, BL CELL M D, 26(3), 2000, pp. 205-210

Authors: Camaschella, C Roetto, A Cali, A De Gobbi, M Garozzo, G Carella, M Majorano, N Totaro, A Gasparini, P
Citation: C. Camaschella et al., The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22, NAT GENET, 25(1), 2000, pp. 14-15

Authors: Rabionet, R Gasparini, P Estivill, X
Citation: R. Rabionet et al., Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins, HUM MUTAT, 16(3), 2000, pp. 190-202

Authors: Purroy, J Bisceglia, L Jaeken, J Gasparini, P Palacin, M Nunes, V
Citation: J. Purroy et al., Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR, HUM MUTAT, 15(4), 2000, pp. 373-379

Authors: Gasparini, P Rabionet, R Barbujani, G Melchionda, S Petersen, M Brondum-Nielsen, K Metspalu, A Oitmaa, E Pisano, M Fortina, P Zelante, L Estivill, X
Citation: P. Gasparini et al., High carrier frequency of the 35delG deafness mutation in European populations, EUR J HUM G, 8(1), 2000, pp. 19-23

Authors: Zelante, L Gasparini, P Savoia, A Lomuto, M Pellicano, R
Citation: L. Zelante et al., A new case of Acromegaloid Facial Appearance (AFA) syndrome with an expanded phenotype, CLIN DYSMOR, 9(3), 2000, pp. 221-222

Authors: Bertoldo, F D'Agruma, L Furlan, F Colapietro, F Lorenzi, MT Maioran, N Iolascon, A Zelante, L Locascio, V Gasparini, P
Citation: F. Bertoldo et al., Transforming growth factor-beta 1 gene polymorphism, bone turnover, and bone mass in Italian postmenopausal women, J BONE MIN, 15(4), 2000, pp. 634-639

Authors: Iolascon, A Servedio, V Carbone, R Totaro, A Carella, M Perrotta, S Wickramasinghe, SN Delaunay, J Heimpel, H Gasparini, P
Citation: A. Iolascon et al., Geographic distribution of CDA-II: did a founder effect operate in Southern Italy?, HAEMATOLOG, 85(5), 2000, pp. 470-474

Authors: Gasparini, P
Citation: P. Gasparini, Brazil in 'Yo el Supremo' (The bandeirantes, tamoraes and the cardboard carnivals), HISPAMERICA, 29(87), 2000, pp. 115-126

Authors: Rabionet, R Zelante, L Lopez-Bigas, N D'Agruma, L Melchionda, S Restagno, G Arbones, ML Gasparini, P Estivill, X
Citation: R. Rabionet et al., Molecular basis of childhood deafness resulting from mutations in the GJB2(connexin 26) gene, HUM GENET, 106(1), 2000, pp. 40-44

Authors: Zavaroni, I Platti, PM Monti, LD Gasparini, P Barilli, LA Massironi, P Ardigo, D Valsecchi, G Delsignore, R Reaven, GM
Citation: I. Zavaroni et al., Plasma nitric oxide concentrations are elevated in insulin-resistant healthy subjects, METABOLISM, 49(8), 2000, pp. 959-961

Authors: Zavaroni, I Gasparini, P Barilli, AI Massironi, P Campanini, C Carantoni, M Delsignore, R Reaven, GM
Citation: I. Zavaroni et al., Comparison of fasting plasma leptin concentrations in healthy subjects with high and low plasma insulin, METABOLISM, 49(4), 2000, pp. 499-502

Authors: Perrotta, S Cappellini, MD Bertoldo, F Servedio, V Iolascon, G D'Agruma, L Gasparini, P Siciliani, MC Iolascon, A
Citation: S. Perrotta et al., Osteoporosis in beta-thalassaemia major patients: analysis of the genetic background, BR J HAEM, 111(2), 2000, pp. 461-466
Risultati: 1-25 | 26-48