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 case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome
2024-01-01 Cognigni, Valeria; Capelletto, Enrica; Bordi, Paola; Pavese, Valeria; Carfì, Federica Maria; Gelsomino, Francesco; De Giglio, Andrea; Chiari, Rita; Minari, Roberta; Ambrosini, Enrico; Percesepe, Antonio; Giachino, Daniela; Bironzo, Paolo; Tiseo, Marcello
A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis
2023-01-01 Ferraro, Pietro Manuel; D'Ambrosio, Viola; Gambaro, Giovanni; Giachino, Daniela; Groothoff, Jaap; Mandrile, Giorgia
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
| 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 case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome | 2024 | Cognigni, Valeria; Capelletto, Enrica; Bordi, Paola; Pavese, Valeria; Carfì, Federica Maria; Gelsomino, Francesco; De Giglio, Andrea; Chiari, Rita; Minari, Roberta; Ambrosini, Enrico; Percesepe, Antonio; Giachino, Daniela; Bironzo, Paolo; Tiseo, Marcello | |
| A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis | 2023 | Ferraro, Pietro Manuel; D'Ambrosio, Viola; Gambaro, Giovanni; Giachino, Daniela; Groothoff, Jaap; Mandrile, Giorgia | |
| 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 |