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
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
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.
2014-01-01 Mandrile G;Di Gregorio E;Calcia A;Brussino A;Grosso E;Savin E;Giachino DF;Brusco A
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 BCLI, N363S and ER22/23EK polymorphisms of the glucocorticoid receptor gene in adrenal incidentalomas
2016-01-01 Reimondo, Giuseppe; Chiodini, Iacopo; Puglisi, Soraya; Pia, Anna; Morelli, Valentina; Kastelan, Darko; Cannavo, Salvatore; Berchialla, Paola; Giachino, Daniela; Perotti, Paola; Cuccurullo, Alessandra; Paccotti, Piero; Beck-Peccoz, Paolo; Marchi, Mario De; Terzolo, Massimo
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
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
Atrial fibrillation in a large population with Brugada electrocardiographic pattern: prevalence, management, and correlation with prognosis
2014-01-01 Carla Giustetto; Natascia Cerrato; Elena Gribaudo; Chiara Scrocco; Davide Castagno; Elena Richiardi; Daniela Giachino; Francesca Bianchi; Lorella Barbonaglia; Anna Ferraro; Marco Scaglione; Riccardo Riccardi; Fiorenzo Gaita
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
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
Bayesian Machine Learning Techniques for revealing complex interactions among genetic and clinical factors in association with extra-intestinal Manifestations in IBD patients
2016-01-01 Menti, E; Lanera, C; Lorenzoni, G; Giachino, Daniela F; Marchi, Mario De; Gregori, Dario; Berchialla, Paola
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
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
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
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
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia
2014-01-01 Giorgia Mandrile;Gian Nicola Gallus;Giuseppe Mura;Alessia Sapio;Maria Alessandra Sotgiu;Andrea Montella;Daniela Francesca Giachino;Maria Teresa Dotti;Lucia Ulgheri;Antonio Federico
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
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience
2020-01-01 Tiziana Vaisitti, Monica Sorbini, Martina Callegari, Silvia Kalantari, Valeria Bracciamà, Francesca Arruga, Silvia Bruna Vanzino, Sabina Rendine, Gabriele Togliatto, Daniela Giachino, Alessandra Pelle, Enrico Cocchi, Chiara Benvenuta, Simone Baldovino, Cristiana Rollino, Roberta Fenoglio, Savino Sciascia, Michela Tamagnone, Corrado Vitale, Giovanni Calabrese, Luigi Biancone, Stefania Bussolino, Silvana Savoldi, Maurizio Borzumati, Vincenzo Cantaluppi, Fabio Chiappero, Silvana Ungari, Licia Peruzzi, Dario Roccatello, Antonio Amoroso, Silvia Deaglio
| 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 | |
| A new CARD15 mutation in Blau syndrome | 2005 | VAN DUIST MM; ALBRECHT M; PODSWIADEK M; GIACHINO D; LENGAUER T; PUNZI L; DE MARCHI M | |
| A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. | 2014 | Mandrile G;Di Gregorio E;Calcia A;Brussino A;Grosso E;Savin E;Giachino DF;Brusco A | |
| 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 BCLI, N363S and ER22/23EK polymorphisms of the glucocorticoid receptor gene in adrenal incidentalomas | 2016 | Reimondo, Giuseppe; Chiodini, Iacopo; Puglisi, Soraya; Pia, Anna; Morelli, Valentina; Kastelan, Darko; Cannavo, Salvatore; Berchialla, Paola; Giachino, Daniela; Perotti, Paola; Cuccurullo, Alessandra; Paccotti, Piero; Beck-Peccoz, Paolo; Marchi, Mario De; Terzolo, Massimo | |
| 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 | |
| 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 | |
| Atrial fibrillation in a large population with Brugada electrocardiographic pattern: prevalence, management, and correlation with prognosis | 2014 | Carla Giustetto; Natascia Cerrato; Elena Gribaudo; Chiara Scrocco; Davide Castagno; Elena Richiardi; Daniela Giachino; Francesca Bianchi; Lorella Barbonaglia; Anna Ferraro; Marco Scaglione; Riccardo Riccardi; Fiorenzo Gaita | |
| 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 | |
| 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 | |
| Bayesian Machine Learning Techniques for revealing complex interactions among genetic and clinical factors in association with extra-intestinal Manifestations in IBD patients | 2016 | Menti, E; Lanera, C; Lorenzoni, G; Giachino, Daniela F; Marchi, Mario De; Gregori, Dario; Berchialla, Paola | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia | 2014 | Giorgia Mandrile;Gian Nicola Gallus;Giuseppe Mura;Alessia Sapio;Maria Alessandra Sotgiu;Andrea Montella;Daniela Francesca Giachino;Maria Teresa Dotti;Lucia Ulgheri;Antonio Federico | |
| 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 | |
| Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience | 2020 | Tiziana Vaisitti, Monica Sorbini, Martina Callegari, Silvia Kalantari, Valeria Bracciamà, Francesca Arruga, Silvia Bruna Vanzino, Sabina Rendine, Gabriele Togliatto, Daniela Giachino, Alessandra Pelle, Enrico Cocchi, Chiara Benvenuta, Simone Baldovino, Cristiana Rollino, Roberta Fenoglio, Savino Sciascia, Michela Tamagnone, Corrado Vitale, Giovanni Calabrese, Luigi Biancone, Stefania Bussolino, Silvana Savoldi, Maurizio Borzumati, Vincenzo Cantaluppi, Fabio Chiappero, Silvana Ungari, Licia Peruzzi, Dario Roccatello, Antonio Amoroso, Silvia Deaglio |