Sfoglia per Autore

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Titolo Data di pubblicazione Autore(i) File
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 2002 Longo I; Porcedda P; Mari F; Giachino D; Meloni I; Deplano C; Brusco A; Bosio M; Massella L; Lavoratti G; Roccatello D; Frascá G; Mazzucco G; Muda AO; Conti M; Fasciolo F; Arrondel C; Heidet L; Renieri A; De Marchi M
Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients 2004 Giachino D; van Duist MM; Regazzoni S; Gregori D; Bardessono M; Salacone P; Scaglione N; Sostegni R; Sapone N; Bresso F; Sambataro A; Gaia E; Pera A; Astegiano M; De Marchi M
RNASEL R462Q is significantly associated with Prostate Cancer in the Italian population 2005 M. M. van Duist; D. Giachino; A. Zitella; P. De Stefanis; M. E. Graziano; C. Cracco; R. Scarpa; U. Ferrando; D. Fontana; A. Tizzani; M. De Marchi
Pharmacogenetics studies in patients with advanced lungcancer: prognostic value of the thymidylate synthase 2R/3Rpolymorphism and predictivity of NER factor XPD K751Qand XRCC1 R399Q polymorphisms following platinum-basedchemotherapy 2005 Giachino DF; Ghio P; Regazzoni S; Mandrile G; Novello S; SelvaggiG; De Marchi; Scagliotti GV
RNASEL Arg462Gln is significantly associated with Prostate cancer in the Italian population 2005 Van Duist MM; Giachino D; Zitella P; Destefanis P; Graziano ME; Cracco C; Scarpa R; Ferrando U; Fontana D; Tizzani A; De Marchi M
A new CARD15 mutation in Blau syndrome 2005 VAN DUIST MM; ALBRECHT M; PODSWIADEK M; GIACHINO D; LENGAUER T; PUNZI L; DE MARCHI M
Pharmacogenetics studies in patients with advanced lung cancer: Prognostic value of the thymidylate synthase 2R/3R polymorphism and predictivity of NER factor XPD K751Q and XRCC1 R399Q polymorphisms following platinum-based chemotherapy 2005 Giachino, Daniela Francesca; Ghio, P.; Regazzoni, S.; Mandrile, Giorgia; Novello, Silvia; Selvaggi, G.; DE MARCHI, Mario; Scagliotti, Giorgio Vittorio
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms 2005 E Scala; F Ariani; F Mari; R Caselli; C Pescucci; I Longo; I Meloni; D Giachino; M Bruttini; G Hayek; M Zappella; A Renieri
Mutation analysis of the MSH6 gene in 52 MLH1/MSH2-negative, HNPCC suspect Italian patients 2006 P. Pazienza*; M. Barberis*; I. Borelli; S. Regazzoni; D. Giachino; G. Casalis Cavalchini; A. Allavena; M. Micheletti; A. Arrigoni; M. Schena; E. Grosso; T. Venesio; E. David; B. Pasini; N. Migone; M. De Marchi
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case 2006 Mari F; Giachino D; Russo L; Pilia G; Ariani F; Scala E; Chiappe F; Sampieri K; Caporossi A; Renieri A; Lasorella G
Stage IB malignant thymoma in a Lynch syndrome patient with multiple cancers: response to incidental administration of oxaliplatin and 5-fluorouracil 2006 Tampellini M; Alabiso I; Sculli CM; Barberis M; Giachino D; Berruti A; Dogliotti L
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 2006 SAMPIERI K; HADJISTILIANOU T; MARI F; SPECIALE C; MENCARELLI MA; CETTA F; MANOUKIAN S; PEISSEL B; GIACHINO D; B. PASINI; ACQUAVIVA A; CAPOROSSI A; FREZZOTTI R; RENIERI A; BRUTTINI M.
Analysis of TP53 Arg72Pro and MDM2 SNP309 T>G polymorphisms as modifier factors in hereditary retinoblastoma 2007 K. Sampieri; F. Ariani; D. Giachino; G. Mandrile; M. De Marchi; M. Bruttini; M. Mencarelli; F. Mari; T. Hadjistilianou; S. De Francesco; A. Acquaviva; A. Renieri
Modeling the role of genetic factors in characterizing extra-intestinal manifestations in Crohn's disease patients: does this improve outcome predictions? 2007 D. GIACHINO; S. REGAZZONI; M. BARDESSONO; M. DE MARCHI; D. GREGORI
Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer 2007 Giachino DF; Ghio P; Regazzoni S; Mandrile G; Novello S; Selvaggi G; Gregori D; DeMarchi M; Scagliotti GV.
MDM2 309 and TP53 Arg72Pro single nucleotide polymorphisms (SNPs) and clinical outcome in advanced lung cancer patients 2007 S. Novello; G. Mandrile; D. F. Giachino; P. Ghio; G. Selvaggi; D. Gregori; M. De Marchi; G. V. Scagliotti
Prospective study assessing MDM2 309 and p53 Arg72Pro single nucleotide polymorphism (SNPs) and clinical outcome in advanced lung cancer 2007 Mandrile, Giorgia; Giachino, Daniela Francesca; Novello, Silvia; Paolo, Ghio; Giovanni, Selvaggi; Gregori, Dario; DE MARCHI, Mario; Scagliotti, Giorgio Vittorio
Peritoneal Dialysis and platelet infusion can be effective for MNGIE relapsing neuropathy not responding to intravenous high-dose gammaglobulin (IVIG) 2008 Lorenza Delfico; Alessia Tavella; Cinzia Ferrero; Giorgia Mandrile; D Giachino; C Guarena; Bruno Ferrero; Luca Durelli
The Italian Multicenter Study of Primary Hyperoxaluria 2008 Licia Peruzzi; Angela Robbiano; Giorgia Mandrile; Daniela Giachino; Michele Petrarulo; Martino Marangella; Rosanna Coppo; Luisa Murer; Stefano Picca; Sonia Berardi; Giovanni Mosconi; Antonio Amoroso; Mario De Marchi
Uromodulinopathies May Show a Wider Phenotypic Spectrum and Be Responsible of as Many as 3% of Unspecific ESRF Cases 2008 Antonio Amoroso; Simona Benoni; Daniela Giachino; Giorgia Mandrile; Marta Tavecchia; Massimo Bruno; Bruno Basolo; Andrea Campo; Paolo Bossi; Giancarlo Priasca; Roberta Giraudi; Silvana Savoldi; Piero Stratta; Mario De Marchi
Mostrati risultati da 1 a 20 di 92
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