Sfoglia per Autore
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
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.
Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells
2008-01-01 Franca Gerosa; Barbara Baldani-Guerra; Lyudmila A Lyakh; Giovanna Batoni; Semih Esin; Robin T Winkler-Pickett; Maria Rita Consolaro; Mario De Marchi; Daniela Giachino; Angela Robbiano; Marco Astegiano; Angela Sambataro; Robert A Kastelein; Giuseppe Carra; Giorgio Trinchieri
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
RAS mutations are the predominant molecular alteration in poorly differentiated thyroid carcinomas and bear prognostic impact
2009-01-01 Volante M; Rapa I; Gandhi M; Bussolati G; Giachino D; Papotti M; Nikiforov YE.
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome
2009-01-01 Marcocci E; Uliana V; Bruttini M; Artuso R; Cirillo Silengo M; Zerial M; Bergesio F; Amoroso A; Savoldi S; Pennesi M; Giachino D; Rombolà G; Battista Fogazzi G; Rosatelli C; Dresch Martinhago C; Carmellini M; Mancini R; Di Costanzo G; Longo I; Renieri A; Mari F
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene
2009-01-01 Williams EL; Acquaviva C; Amoroso A; Chevalier F; Coulter-Mackie M; Monico CG; Giachino D; Owen T; Robbiano A; Salido E; Waterham H; Rumsby G
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
MDM2 and TP53 are modifier genes of retinoblastoma
2010-01-01 V Disciglio; P Berchialla; D Giachino; M Amenduni; G Livide; M Mencarelli; A Marozza; F Mari; F Ariani; A Renieri; M De Marchi
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.
GLUCOCORTICOID RECEPTOR POLYMORPHISMS AND METABOLIC-CARDIOVASCULAR PROFILE IN PATIENTS WITH ADDISON’S DISEASE UNDER REPLACEMENT THERAPY
2011-01-01 R. Giordano; S. Marzotti; R. Berardelli; I. Karamouzis; E. Marinazzo; A. Picu; D. Forno; D. Zinnà; D. Giachino; A. Falorni; E. Ghigo; E. Arvat
SINGLE NUCLEOTIDE POLYMORPHISMS (SNP) AND HAPLOTYPES IN PSA PROMOTER: A NEW PROMISING PROSTATE CANCER SUSCEPTIBILITY AND PROGNOSIS PREDICTOR TOOL
2011-01-01 P Gontero; A Zitella; D Giachino; E De Franco; M De Marchi; E De Filippi; F Peraldo; F Pisano; A Tizzani
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma
2011-01-01 Epistolato MC; Disciglio V; Livide G; Berchialla P; Mencarelli MA; Marozza A; Amenduni M; Hadjistilianou T; De Francesco S; Acquaviva A; Toti P; Cetta F; Ariani F; De Marchi M; Renieri A; Giachino D
Detection of EGFR mutations in archival lung cancer samples by pyrosequencing
2011-01-01 Cappia S; Cuccurullo A; Giachino D; Righi L; Bacillo E; De Risi C; Rovere G; Novello S; Papotti M
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.
2011-01-01 Maffé A; Toschi B; Circo G; Giachino D; Giglio S; Rizzo A; Carloni A; Poletti V; Tomassetti S; Ginardi C; Ungari S; Genuardi M
Short QT syndrome
2011-01-01 Carla Giustetto; Chiara Scrocco; Daniela Giachino; Charles Antzelevitch; Fiorenzo Gaita.
Mammalian target of rapamycin pathway activation is associated to RET mutation status in medullary thyroid carcinoma.
2011-01-01 Rapa I; Saggiorato E; Giachino D; Palestini N; Orlandi F; Papotti M; Volante M.
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| 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. | |
| Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells | 2008 | Franca Gerosa; Barbara Baldani-Guerra; Lyudmila A Lyakh; Giovanna Batoni; Semih Esin; Robin T Winkler-Pickett; Maria Rita Consolaro; Mario De Marchi; Daniela Giachino; Angela Robbiano; Marco Astegiano; Angela Sambataro; Robert A Kastelein; Giuseppe Carra; Giorgio Trinchieri | |
| 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 | |
| RAS mutations are the predominant molecular alteration in poorly differentiated thyroid carcinomas and bear prognostic impact | 2009 | Volante M; Rapa I; Gandhi M; Bussolati G; Giachino D; Papotti M; Nikiforov YE. | |
| Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome | 2009 | Marcocci E; Uliana V; Bruttini M; Artuso R; Cirillo Silengo M; Zerial M; Bergesio F; Amoroso A; Savoldi S; Pennesi M; Giachino D; Rombolà G; Battista Fogazzi G; Rosatelli C; Dresch Martinhago C; Carmellini M; Mancini R; Di Costanzo G; Longo I; Renieri A; Mari F | |
| Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene | 2009 | Williams EL; Acquaviva C; Amoroso A; Chevalier F; Coulter-Mackie M; Monico CG; Giachino D; Owen T; Robbiano A; Salido E; Waterham H; Rumsby G | |
| 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 | |
| MDM2 and TP53 are modifier genes of retinoblastoma | 2010 | V Disciglio; P Berchialla; D Giachino; M Amenduni; G Livide; M Mencarelli; A Marozza; F Mari; F Ariani; A Renieri; M De Marchi | |
| 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. | |
| GLUCOCORTICOID RECEPTOR POLYMORPHISMS AND METABOLIC-CARDIOVASCULAR PROFILE IN PATIENTS WITH ADDISON’S DISEASE UNDER REPLACEMENT THERAPY | 2011 | R. Giordano; S. Marzotti; R. Berardelli; I. Karamouzis; E. Marinazzo; A. Picu; D. Forno; D. Zinnà; D. Giachino; A. Falorni; E. Ghigo; E. Arvat | |
| SINGLE NUCLEOTIDE POLYMORPHISMS (SNP) AND HAPLOTYPES IN PSA PROMOTER: A NEW PROMISING PROSTATE CANCER SUSCEPTIBILITY AND PROGNOSIS PREDICTOR TOOL | 2011 | P Gontero; A Zitella; D Giachino; E De Franco; M De Marchi; E De Filippi; F Peraldo; F Pisano; A Tizzani | |
| p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma | 2011 | Epistolato MC; Disciglio V; Livide G; Berchialla P; Mencarelli MA; Marozza A; Amenduni M; Hadjistilianou T; De Francesco S; Acquaviva A; Toti P; Cetta F; Ariani F; De Marchi M; Renieri A; Giachino D | |
| Detection of EGFR mutations in archival lung cancer samples by pyrosequencing | 2011 | Cappia S; Cuccurullo A; Giachino D; Righi L; Bacillo E; De Risi C; Rovere G; Novello S; Papotti M | |
| Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. | 2011 | Maffé A; Toschi B; Circo G; Giachino D; Giglio S; Rizzo A; Carloni A; Poletti V; Tomassetti S; Ginardi C; Ungari S; Genuardi M | |
| Short QT syndrome | 2011 | Carla Giustetto; Chiara Scrocco; Daniela Giachino; Charles Antzelevitch; Fiorenzo Gaita. | |
| Mammalian target of rapamycin pathway activation is associated to RET mutation status in medullary thyroid carcinoma. | 2011 | Rapa I; Saggiorato E; Giachino D; Palestini N; Orlandi F; Papotti M; Volante M. | |
| 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 |
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