RE-BVS – Piemonte Repository

Sfoglia per AUTORE
DE MARCHI M
Collezione AOU San Luigi di Orbassano

Items : 8

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. in Clinical genetics / Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25.

2017
AO Cuneo
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

De Rubeis S; Pasini B; Grosso E; Buxbaum JD; Cirillo Silengo M; Provero P; De Marchi M; Restagno G; Pelle A; Giachino DF; Savin E; Gandione M; Brussino A; Ferrero M; Mancini C; Giorgio E; Cavalieri S; Talarico F; Pappi P; Zacchetti G; Zonta A; Ungari S; Sirchia F; Sorasio L; Naretto VG; Maffè A; Arduino C; Mandrile G; Keller R; et alii...

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria. in Journal of nephrology / J Nephrol. 2017 Apr;30(2):219-225. doi: 10.1007/s40620-016-0287-4. Epub 2016 Mar 5.

2017
AO Ordine Mauriziano
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Giachino D; Mandrile G; Marangella M; Amoroso A; De Marchi M; Petrarulo M; Peruzzi L; Benetti E; Negrisolo S; Pelle A; Cuccurullo A; Mancini C; Stallone G; Sebastiano R;

In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis. in Cell reports / Cell Rep. 2016 Jun 7;15(10):2292-2300. doi: 10.1016/j.celrep.2016.05.014. Epub 2016 May 26.

2016
AOU San Luigi di Orbassano

Pagliarini R; Castello R; Napolitano F; Borzone R; Annunziata P; Mandrile G; De Marchi M; Brunetti-Pierri N; di Bernardo D;

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans. in Cerebellum (London, England) / Cerebellum. 2016 Apr;15(2):208-12. doi: 10.1007/s12311-015-0679-3.

2016
ASL Torino 3
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Losa S; De Marchi M; Rolando M; Iudicello M; De Mercanti S; Goel H; Giachino D; Di Gregorio E; Brusco A; Mandrile G;

Analysis of BCLI, N363S and ER22/23EK Polymorphisms of the Glucocorticoid Receptor Gene in Adrenal Incidentalomas. in PloS one / PLoS One. 2016 Sep 20;11(9):e0162437. doi: 10.1371/journal.pone.0162437. eCollection 2016.

2016
AOU San Luigi di Orbassano

Reimondo G; Chiodini I; Puglisi S; Pia A; Morelli V; Kastelan D; Cannavo S; Berchialla P; Giachino D; Perotti P; Cuccurullo A; Paccotti P; Beck-Peccoz P; De Marchi M; Terzolo M;

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. in Scientific reports / Sci Rep. 2014 Sep 25;4:6470. doi: 10.1038/srep06470.

2014
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Giustetto C; Gaita F; Carvalho P; De Marchi M; Cerrato N; Mandrile G; Menegon S; Vatrano S; Ricci MT; Giachino DF;

Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria. in Human genetics / Hum Genet. 2010 Apr;127(4):468.

2010
AOU San Luigi di Orbassano

Robbiano A; Mandrile G; De Marchi M; Beck B; Baasner A; Murer L; Benetti E; Giachino D;

Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance. in Urological research / Urol Res. 2008 Dec;36(6):309-12. doi: 10.1007/s00240-008-0162-4. Epub 2008 Nov 5.

2008
AOU San Luigi di Orbassano

Mandrile G; Robbiano A; Giachino DF; Sebastiano R; Dondi E; Fenoglio R; Stratta P; Caruso MR; Petrarulo M; Marangella M; De Marchi M;