GIACHINO, Daniela Francesca

GIACHINO, Daniela Francesca  

SCIENZE CLINICHE E BIOLOGICHE  

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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 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
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