Sfoglia per Autore
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
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
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
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 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.
Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance
2008-01-01 Mandrile G; Robbiano A; Giachino DF; Sebastiano R; Dondi E; Fenoglio R; Stratta P; Caruso MR; Petrarulo M; Marangella M; De Marchi M.
Uromodulinopathies May Show a Wider Phenotypic Spectrum and Be Responsible of as Many as 3% of Unspecific ESRF Cases
2008-01-01 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
The Italian Multicenter Study of Primary Hyperoxaluria
2008-01-01 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
Primary hyperoxaluria in Italy
2008-01-01 Robbiano, Angela; Mandrile, Giorgia; Petrarulo, M.; Pirulli, D.; Zadro, C.; Giachino, Daniela Francesca; Marangella, M.; Amoroso, Antonio; DE MARCHI, Mario
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
THE BURDEN OF MISDIAGNOSED RARE DISEASES IN RECIPIENT OF RENAL TRANSPLANTATION
2009-01-01 Airoldi Andrea; Lazzarich Elisa; Menegotto Alberto; Fenoglio Roberta; Tavecchia Marta; Giachino Daniela; Mandrile Giorgia; De Marchi Mario; Fogazzi Giovanni; Stratta Piero
Doppia traslocazione (7;13 e 11;15) con delezione di 3.4 Mb in 13q12.2 associata ad ipotonia e ritardo dello sviluppo psicomotorio
2010-01-01 G. Mandrile; E. Di Gregorio; A. Calcia; A. Brussino; E. Grosso; D. Giachino; A. Brusco
Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria
2010-01-01 Robbiano A; Mandrile G; De Marchi M; Beck B; Baasner A; Murer L; Benetti E; Giachino D.
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type I
2010-01-01 Robbiano A.; Frecer V.; Miertus J.; Zadro C.; Ulivi S.; Bevilacqua E.; Mandrile G.; De Marchi M.; Miertus S.; Amoroso A.
NOTCH3 gene mutations in subjects clinically suspected of CADASIL
2011-01-01 Mosca L; Marazzi R; Ciccone A; Santilli I; Bersano A; Sansone V; Grosso E; Mandrile G; Giachino DF; Adobbati L; Corengia E; Agostoni E; Fiumani A; Gallone S; Scarpini E; Guidotti M; Sterzi R; Ajmone C; Marocchi A; Penco S
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment
2012-01-01 Cochat P;Hulton SA; Acquaviva C; Danpure CJ; Daudon M; De Marchi M; Fargue S; Groothoff J; Harambat J; Hoppe B; Jamieson NV; Kemper MJ; Mandrile G; Marangella M; Picca S; Rumsby G; Salido E; Straub M; van Woerden CS; Amoroso A; Beck BB; Berthiller J; De Broe M; Canoui-Poitrine F; Cellini B; Cochat P; Danpure C; Fargue S; Groothoff J; Guittard L; Harambat J; Hoppe B; Hulton SA; Jacob DE; Kemper M; Kleta R; Latta K; Mandrile G; Marangella M; di Marchi M; Peruzzi L; Rumsby G; Salido E; Schmidtko J; von Schnakenburg C; Schott AM; Sikora P; Straub M; Verhulst A; Wanders RJ; Wijburg FA; van Woerden C.
BCLI POLYMORPHISM OF THE GLUCOCORTICOID RECEPTOR GENE IS ASSOCIATED WITH INCREASED OBESITY, IMPAIRED GLUCOSE TOLERANCE AND DYSLIPIDEMIA IN PATIENTS WITH ADDISON’S DISEASE
2012-01-01 R. Giordano; S. Marzotti; R. Berardelli; I. Karamouzis; A. Brozzetti; V. D’Angelo; G. Mengozzi; G. Mandrile; D. Giachino; G. Migliaretti; V. Bini; A. Falorni; E. Ghigo; E. Arvat
A case report of type 1 brugada ECG exercise induced
2013-01-01 A. Previti; P. Carvalho; G.P. Varalda; D. Giachino; G. Mandrile; G. Colombatti; C. Rolando; R. Pozzi
3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?
2013-01-01 Giorgia Mandrile;Anna Dubois;Jodi D. Hoffman;Vera Uliana;Emilio Di Maria;Michela Malacarne;Domenico Coviello;Francesca Faravelli;Simon Zwolinski;Stephen Hellens;Michael Wright;Francesca Forzano
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
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 | |
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 | |
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 | |
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 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. | |
Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance | 2008 | Mandrile G; Robbiano A; Giachino DF; Sebastiano R; Dondi E; Fenoglio R; Stratta P; Caruso MR; Petrarulo M; Marangella M; De Marchi M. | |
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 | |
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 | |
Primary hyperoxaluria in Italy | 2008 | Robbiano, Angela; Mandrile, Giorgia; Petrarulo, M.; Pirulli, D.; Zadro, C.; Giachino, Daniela Francesca; Marangella, M.; Amoroso, Antonio; DE MARCHI, Mario | |
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 | |
THE BURDEN OF MISDIAGNOSED RARE DISEASES IN RECIPIENT OF RENAL TRANSPLANTATION | 2009 | Airoldi Andrea; Lazzarich Elisa; Menegotto Alberto; Fenoglio Roberta; Tavecchia Marta; Giachino Daniela; Mandrile Giorgia; De Marchi Mario; Fogazzi Giovanni; Stratta Piero | |
Doppia traslocazione (7;13 e 11;15) con delezione di 3.4 Mb in 13q12.2 associata ad ipotonia e ritardo dello sviluppo psicomotorio | 2010 | G. Mandrile; E. Di Gregorio; A. Calcia; A. Brussino; E. Grosso; D. Giachino; A. Brusco | |
Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria | 2010 | Robbiano A; Mandrile G; De Marchi M; Beck B; Baasner A; Murer L; Benetti E; Giachino D. | |
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type I | 2010 | Robbiano A.; Frecer V.; Miertus J.; Zadro C.; Ulivi S.; Bevilacqua E.; Mandrile G.; De Marchi M.; Miertus S.; Amoroso A. | |
NOTCH3 gene mutations in subjects clinically suspected of CADASIL | 2011 | Mosca L; Marazzi R; Ciccone A; Santilli I; Bersano A; Sansone V; Grosso E; Mandrile G; Giachino DF; Adobbati L; Corengia E; Agostoni E; Fiumani A; Gallone S; Scarpini E; Guidotti M; Sterzi R; Ajmone C; Marocchi A; Penco S | |
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment | 2012 | Cochat P;Hulton SA; Acquaviva C; Danpure CJ; Daudon M; De Marchi M; Fargue S; Groothoff J; Harambat J; Hoppe B; Jamieson NV; Kemper MJ; Mandrile G; Marangella M; Picca S; Rumsby G; Salido E; Straub M; van Woerden CS; Amoroso A; Beck BB; Berthiller J; De Broe M; Canoui-Poitrine F; Cellini B; Cochat P; Danpure C; Fargue S; Groothoff J; Guittard L; Harambat J; Hoppe B; Hulton SA; Jacob DE; Kemper M; Kleta R; Latta K; Mandrile G; Marangella M; di Marchi M; Peruzzi L; Rumsby G; Salido E; Schmidtko J; von Schnakenburg C; Schott AM; Sikora P; Straub M; Verhulst A; Wanders RJ; Wijburg FA; van Woerden C. | |
BCLI POLYMORPHISM OF THE GLUCOCORTICOID RECEPTOR GENE IS ASSOCIATED WITH INCREASED OBESITY, IMPAIRED GLUCOSE TOLERANCE AND DYSLIPIDEMIA IN PATIENTS WITH ADDISON’S DISEASE | 2012 | R. Giordano; S. Marzotti; R. Berardelli; I. Karamouzis; A. Brozzetti; V. D’Angelo; G. Mengozzi; G. Mandrile; D. Giachino; G. Migliaretti; V. Bini; A. Falorni; E. Ghigo; E. Arvat | |
A case report of type 1 brugada ECG exercise induced | 2013 | A. Previti; P. Carvalho; G.P. Varalda; D. Giachino; G. Mandrile; G. Colombatti; C. Rolando; R. Pozzi | |
3q26.33-3q27.2 microdeletion: a new microdeletion syndrome? | 2013 | Giorgia Mandrile;Anna Dubois;Jodi D. Hoffman;Vera Uliana;Emilio Di Maria;Michela Malacarne;Domenico Coviello;Francesca Faravelli;Simon Zwolinski;Stephen Hellens;Michael Wright;Francesca Forzano |
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