GIACHINO, Daniela Francesca
GIACHINO, Daniela Francesca
SCIENZE CLINICHE E BIOLOGICHE
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion
2014-01-01 D. Carli; G. Mandrile; E. Savin; G. Rivalta; M. Rolando; D. F. Giachino; E. Di Gregorio; A. Brusco
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
Analysis of BclI, N363S and ER22/23EK polymorphism of the glucocorticoid receptor gene in a large series of patients with adrenal incidentaloma
2013-01-01 G. Reimondo; M. Coletta; D. Giachino; I. Chiodini; D. Kastelan; V. Morelli; S. Cannavi; A. Cuccurullo; P. Beck-Peccoz; M. De Marchi; M. Terzolo
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
ASSOCIATION BETWEEN RS12917707 SINGLE NUCLEOTIDE POLYMORPHISM AT THE UMOD PROMOTER REGION AND SERUM UROMODULIN LEVELS: IMPLICATIONS IN KIDNEY TRANSPLANTATION
2018-01-01 Silvia Deaglio, Ilaria Notaro, Alice Ianniello, Daniela F Giachino, Daniela Biongiovanni, Pamela M Moschini, Paola Magistroni, Giulio Mengozzi, Luca Rampoldi, Antonio Amoroso
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
Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome
2014-01-01 G. C. Casalis Cavalchini; D. Giachino; G. Mandrile; I. Borelli; M. Micheletti; T. Venesio; M. De Marchi; B. Pasini
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
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
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
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
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans
2014-01-01 G. Mandrile; E. Di Gregorio; H. Goel; D. F. Giachino; S. De Mercanti; M. Iudicello; S. Losa; M. Rolando; L. Ranum; M. De Marchi; A. Brusco
Long-term follow-up and predictors of arrhythmic events in the brugada registry of the piedmont region of Italy
2012-01-01 N.Cerrato; C.Giustetto; A.Vairo; D.Giachino; L. Barbonaglia; F. Bianchi; G.Varalda; F. D'Ascenzo; P. Dalmasso; F. Gaita
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
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
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
NOVEL AND KNOWN MUTATIONS IDENTIFIED BY CLINICAL EXOME SEQUENCING FOR THE DIAGNOSIS OF POLYCYSTIC KIDNEY DISEASE
2020-01-01 Deaglio, Silvia; Amoroso, Antonio; Roccatello, Dario; Peruzzi, Licia; Gianoglio, Bruno; Viglino, Giusto; Bertinetto, Patrizia; Borzumati, Maurizio; Funaro, Loredana; Santi, Sonia; Maroni, Serena; Strampelli, Emanuela; Biancone, Luigi; Leonardi, Gianluca; Calabrese, Giovanni; Berta, Valentina; Vitale, Corrado; Soragna, Giorgio; Gherzi, Maurizio; Tamagnone, Michela; Fenoglio, Roberta; Rollino, Cristiana; Baldovino, Simone; Cocchi, Enrico; Giachino, Daniela; Pelle, Alessandra; Vanzino, Silvia Bruna; Arruga, Francesca; Bracciamà, Valeria; Kalantari, Silvia; Callegari, Martina; Sorbini, Monica; Vaisitti, Tiziana
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
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
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion | 2014 | D. Carli; G. Mandrile; E. Savin; G. Rivalta; M. Rolando; D. F. Giachino; E. Di Gregorio; A. Brusco | |
| 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 | |
| Analysis of BclI, N363S and ER22/23EK polymorphism of the glucocorticoid receptor gene in a large series of patients with adrenal incidentaloma | 2013 | G. Reimondo; M. Coletta; D. Giachino; I. Chiodini; D. Kastelan; V. Morelli; S. Cannavi; A. Cuccurullo; P. Beck-Peccoz; M. De Marchi; M. Terzolo | |
| 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 | |
| ASSOCIATION BETWEEN RS12917707 SINGLE NUCLEOTIDE POLYMORPHISM AT THE UMOD PROMOTER REGION AND SERUM UROMODULIN LEVELS: IMPLICATIONS IN KIDNEY TRANSPLANTATION | 2018 | Silvia Deaglio, Ilaria Notaro, Alice Ianniello, Daniela F Giachino, Daniela Biongiovanni, Pamela M Moschini, Paola Magistroni, Giulio Mengozzi, Luca Rampoldi, Antonio Amoroso | |
| 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 | |
| Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome | 2014 | G. C. Casalis Cavalchini; D. Giachino; G. Mandrile; I. Borelli; M. Micheletti; T. Venesio; M. De Marchi; B. Pasini | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans | 2014 | G. Mandrile; E. Di Gregorio; H. Goel; D. F. Giachino; S. De Mercanti; M. Iudicello; S. Losa; M. Rolando; L. Ranum; M. De Marchi; A. Brusco | |
| Long-term follow-up and predictors of arrhythmic events in the brugada registry of the piedmont region of Italy | 2012 | N.Cerrato; C.Giustetto; A.Vairo; D.Giachino; L. Barbonaglia; F. Bianchi; G.Varalda; F. D'Ascenzo; P. Dalmasso; F. Gaita | |
| 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 | |
| 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 | |
| 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 | |
| NOVEL AND KNOWN MUTATIONS IDENTIFIED BY CLINICAL EXOME SEQUENCING FOR THE DIAGNOSIS OF POLYCYSTIC KIDNEY DISEASE | 2020 | Deaglio, Silvia; Amoroso, Antonio; Roccatello, Dario; Peruzzi, Licia; Gianoglio, Bruno; Viglino, Giusto; Bertinetto, Patrizia; Borzumati, Maurizio; Funaro, Loredana; Santi, Sonia; Maroni, Serena; Strampelli, Emanuela; Biancone, Luigi; Leonardi, Gianluca; Calabrese, Giovanni; Berta, Valentina; Vitale, Corrado; Soragna, Giorgio; Gherzi, Maurizio; Tamagnone, Michela; Fenoglio, Roberta; Rollino, Cristiana; Baldovino, Simone; Cocchi, Enrico; Giachino, Daniela; Pelle, Alessandra; Vanzino, Silvia Bruna; Arruga, Francesca; Bracciamà, Valeria; Kalantari, Silvia; Callegari, Martina; Sorbini, Monica; Vaisitti, Tiziana | |
| 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 | |
| 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 | |
| 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 |