Results: 1-25 | 26-29
Results: 1-25/29

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: 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: 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: 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: 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: Tonelli, R Strippoli, P Grossi, A Savoia, A Iolascon, A Savino, M Teriaca, MS Servedio, V Morfini, M Zelante, L Borgna-Pignatti, C Rosito, P Pession, A Paolucci, G Bagnara, GP
Citation: R. Tonelli et al., Hereditary thrombocytopenia due to reduced platelet production - Report ontwo families and mutational screening of the thrombopoietin receptor gene (c-mpl), THROMB HAEM, 83(6), 2000, pp. 931-936

Authors: Angius, A Spinelli, P Ghilotti, G Casu, G Sole, G Loi, A Totaro, A Zelante, L Gasparini, P Orzalesi, N Piratsu, M Bonomi, L
Citation: A. Angius et al., Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma, ARCH OPHTH, 118(5), 2000, pp. 674-679

Authors: Seri, M Melchionda, S Dreyer, S Marini, M Carella, M Cusano, R Piemontese, MR Caroli, F Silengo, M Zelante, L Romeo, G Ravazzolo, R Gasparini, P Lee, B
Citation: M. Seri et al., Identification of LMX1B gene point mutations in Italian patients affected with Nail-Patella syndrome, INT J MOL M, 4(3), 1999, pp. 285-290

Authors: Grifa, A Wagner, CA D'Ambrosio, L Melchionda, S Bernardi, F Lopez-Bigas, N Rabionet, R Arbones, M Della Monica, M Estivill, X Zelante, L Lang, F Gasparini, P
Citation: A. Grifa et al., Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus, NAT GENET, 23(1), 1999, pp. 16-18

Authors: Feliubadalo, L Font, M Purroy, J Rousaud, F Estivill, X Nunes, V Golomb, E Centola, M Aksentijevich, I Kreiss, Y Goldman, B Pras, M Kastner, DL Pras, E Gasparini, P Bisceglia, L Beccia, E Gallucci, M de Sanctis, L Ponzone, A Rizzoni, GF Zelante, L Bassi, MT George, AL Manzoni, M De Grandi, A Riboni, M Endsley, JK Ballabio, A Borsani, G Reig, N Fernandez, E Estevez, R Pineda, M Torrents, D Camps, M Lloberas, J Zorzano, A Palacin, M
Citation: L. Feliubadalo et al., Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT, NAT GENET, 23(1), 1999, pp. 52-57

Authors: Lopez-Bigas, N Rabionet, R de Cid, R Govea, N Gasparini, P Zelante, L Arbones, ML Estivill, X
Citation: N. Lopez-bigas et al., Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome, HUM MUTAT, 14(6), 1999, pp. 520-526

Authors: De Brasi, D Esposito, T Rossi, M Parenti, G Sperandeo, MP Zuppaldi, A Bardaro, T Ambruzzi, MA Zelante, L Ciccodicola, A Sebastio, G D'Urso, M Andria, G
Citation: D. De Brasi et al., Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Delta7-sterol reductase in Italy and report of three novel mutations, EUR J HUM G, 7(8), 1999, pp. 937-940

Authors: Gasparini, P Arbustini, E Restagno, G Zelante, L Stanziale, P Gatta, L Sbaiz, L Sedita, AM Banchieri, N Sapone, L Fiorucci, GC Brinson, E Shulse, E Rappaport, E Fortina, P
Citation: P. Gasparini et al., Analysis of 31 CFTR mutations by polymerase chain reaction oligonucleotideligation assay in a pilot screening of 4476 newborns for cystic fibrosis, J MED SCREE, 6(2), 1999, pp. 67-69

Authors: Zelante, L Candela, MA Savoia, A Gasparini, P
Citation: L. Zelante et al., Confirmation of Kapur-Toriello syndrome in an Italian patient, CLIN DYSMOR, 8(2), 1999, pp. 151-153

Authors: Savino, M d'Apolito, M Centra, M van Beerendonk, HM Cleton-Jansen, AM Whitmore, SA Crawford, J Callen, DF Zelante, L Savoia, A
Citation: M. Savino et al., Characterization of copine VII, a new member of the copine family, and itsexclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3, GENOMICS, 61(2), 1999, pp. 219-226

Authors: Feliubadalo, L Bisceglia, L Font, M Dello Strologo, L Beccia, E Arslan-Kirchner, M Steinmann, B Zelante, L Estivill, X Zorzano, A Palacin, M Gasparini, P Nunes, V
Citation: L. Feliubadalo et al., Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1, GENOMICS, 60(3), 1999, pp. 362-365

Authors: Crawford, J Ianzano, L Savino, M Whitmore, S Cleton-Jansen, AM Settasatian, C d'Apolito, M Seshadri, R Pronk, JC Auerbach, AD Verlander, PC Mathew, CG Tipping, AJ Doggett, NA Zelante, L Callen, DF Savoia, A
Citation: J. Crawford et al., The PISSLRE gene: Structure, exon skipping, and exclusion as tumor suppressor in breast cancer, GENOMICS, 56(1), 1999, pp. 90-97

Authors: Iolascon, A Faienza, MF Centra, M Storelli, S Zelante, L Savoia, A
Citation: A. Iolascon et al., (TA)(8) allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome, HAEMATOLOG, 84(2), 1999, pp. 106-109

Authors: Castriota-Scanderbeg, A Zelante, L Masala, S Gasparini, P Lachman, RS
Citation: A. Castriota-scanderbeg et al., Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia, AM J MED G, 84(1), 1999, pp. 68-73

Authors: Lo Muzio, L Nocini, PF Savoia, A Consolo, U Procaccini, M Zelante, L Pannone, G Bucci, P Dolci, M Bambini, F Solda, P Favia, G
Citation: L. Lo Muzio et al., Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals, CLIN GENET, 55(1), 1999, pp. 34-40
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