GIACHINO, Daniela Francesca

GIACHINO, Daniela Francesca  

SCIENZE CLINICHE E BIOLOGICHE  

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The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. 2015 Maillard AM;Ruef A;Pizzagalli F;Migliavacca E;Hippolyte L;Adaszewski S;Dukart J;Ferrari C;Conus P;Männik K;Zazhytska M;Siffredi V;Maeder P;Kutalik Z;Kherif F;Hadjikhani N;Beckmann JS;Reymond A;Draganski B;Jacquemont S;16p11.2 European Consortium including Addor MC; Andrieux J; Arveiler B; Baujat G; Béna F; Bouquillon S; Boute O; Brusco A; Campion D; David A; Delrue MA; Doco-Fenzy M; Fagerberg C; Faivre L; Forzano F; Giachino D; Guichet A; Guillin O; Héron D; Isidor B; Jacquette A; Journel H; Keren B; Lacombe D; Le Caignec C; Lespinasse J; Mandrile G; Mathieu-Dramard M; Mignot C; Petit F; Plessis G; Prieur F; Sanlaville D; Van Haelst M; Van Maldergem L
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 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
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 2002 Longo I; Porcedda P; Mari F; Giachino D; Meloni I; Deplano C; Brusco A; Bosio M; Massella L; Lavoratti G; Roccatello D; Frascá G; Mazzucco G; Muda AO; Conti M; Fasciolo F; Arrondel C; Heidet L; Renieri A; De Marchi M