Sfoglia per Autore
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome
2002-01-01 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
2004-01-01 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 Arg462Gln is significantly associated with Prostate cancer in the Italian population
2005-01-01 Van Duist MM; Giachino D; Zitella P; Destefanis P; Graziano ME; Cracco C; Scarpa R; Ferrando U; Fontana D; Tizzani A; De Marchi M
RNASEL R462Q is significantly associated with Prostate Cancer in the Italian population
2005-01-01 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
2005-01-01 Giachino DF; Ghio P; Regazzoni S; Mandrile G; Novello S; SelvaggiG; De Marchi; Scagliotti GV
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
2005-01-01 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
2005-01-01 E Scala; F Ariani; F Mari; R Caselli; C Pescucci; I Longo; I Meloni; D Giachino; M Bruttini; G Hayek; M Zappella; A Renieri
A new CARD15 mutation in Blau syndrome
2005-01-01 VAN DUIST MM; ALBRECHT M; PODSWIADEK M; GIACHINO D; LENGAUER T; PUNZI L; DE MARCHI M
Mutation analysis of the MSH6 gene in 52 MLH1/MSH2-negative, HNPCC suspect Italian patients
2006-01-01 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
Stage IB malignant thymoma in a Lynch syndrome patient with multiple cancers: response to incidental administration of oxaliplatin and 5-fluorouracil
2006-01-01 Tampellini M; Alabiso I; Sculli CM; Barberis M; Giachino D; Berruti A; Dogliotti L
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case
2006-01-01 Mari F; Giachino D; Russo L; Pilia G; Ariani F; Scala E; Chiappe F; Sampieri K; Caporossi A; Renieri A; Lasorella G
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.
2006-01-01 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
2007-01-01 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
MDM2 309 and TP53 Arg72Pro single nucleotide polymorphisms (SNPs) and clinical outcome in advanced lung cancer patients
2007-01-01 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
2007-01-01 Mandrile, Giorgia; Giachino, Daniela Francesca; Novello, Silvia; Paolo, Ghio; Giovanni, Selvaggi; Gregori, Dario; DE MARCHI, Mario; Scagliotti, Giorgio Vittorio
Modeling the role of genetic factors in characterizing extra-intestinal manifestations in Crohn's disease patients: does this improve outcome predictions?
2007-01-01 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
2007-01-01 Giachino DF; Ghio P; Regazzoni S; Mandrile G; Novello S; Selvaggi G; Gregori D; DeMarchi M; Scagliotti GV.
Autosomal dominant Alport syndrome: molecular analysis of theCOL4A4 gene and clinical outcome
2008-01-01 E. Marcocci; V. Uliana; M. Silengo; M. Zerial; F. Bergesio; A. Amoroso; M. Pennesi; D. Giachino; C. Rosatelli; C. Dresch Martinhago; M. Carmellini; F. Mari; M. Bruttini; I. Longo; A. Renieri
Clinical and genetic study of primary hyperoxaluria in Italy
2008-01-01 Robbiano A ; Mandrile G ; Giachino D ; Petrarulo M ; Pirulli D ; Zadro C ; Marangella M ; Amoroso A ; Peruzzi L ; Murer L ; Picca S ; De Marchi M
Peritoneal Dialysis and platelet infusion can be effective for MNGIE relapsing neuropathy not responding to intravenous high-dose gammaglobulin (IVIG)
2008-01-01 Lorenza Delfico; Alessia Tavella; Cinzia Ferrero; Giorgia Mandrile; D Giachino; C Guarena; Bruno Ferrero; Luca Durelli
| 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 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 | |
| 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 | |
| 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 | |
| A new CARD15 mutation in Blau syndrome | 2005 | VAN DUIST MM; ALBRECHT M; PODSWIADEK M; GIACHINO D; LENGAUER T; PUNZI L; DE MARCHI M | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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. | |
| Autosomal dominant Alport syndrome: molecular analysis of theCOL4A4 gene and clinical outcome | 2008 | E. Marcocci; V. Uliana; M. Silengo; M. Zerial; F. Bergesio; A. Amoroso; M. Pennesi; D. Giachino; C. Rosatelli; C. Dresch Martinhago; M. Carmellini; F. Mari; M. Bruttini; I. Longo; A. Renieri | |
| Clinical and genetic study of primary hyperoxaluria in Italy | 2008 | Robbiano A ; Mandrile G ; Giachino D ; Petrarulo M ; Pirulli D ; Zadro C ; Marangella M ; Amoroso A ; Peruzzi L ; Murer L ; Picca S ; De Marchi M | |
| 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 |
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