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Sfoglia per AUTORE
GIACHINO DF
Collezione AOU San Luigi di Orbassano

Items : 12

Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility. in Nature genetics / Nat Genet. 2022 May;54(5):735. doi: 10.1038/s41588-022-01079-y.

2022
AOU San Luigi di Orbassano

Barc J; Tadros R; Glinge C; Chiang DY; Jouni M; Simonet F; Jurgens SJ; Baudic M; Nicastro M; Potet F; Offerhaus JA; Walsh R; Choi SH; Verkerk AO; Mizusawa Y; Anys S; Minois D; Arnaud M; Duchateau J; Wijeyeratne YD; Muir A; Papadakis M; Castelletti S; Torchio M; Ortuño CG; Lacunza J; Giachino DF; Cerrato N; Martins RP; et alii...

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility. in Nature genetics / Nat Genet. 2022 Mar;54(3):232-239. doi: 10.1038/s41588-021-01007-6. Epub 2022 Feb 24.

2022
AOU San Luigi di Orbassano

Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants. in Biomedicines / Biomedicines. 2022 Dec 29;11(1):81. doi: 10.3390/biomedicines11010081.

2022
AOU San Luigi di Orbassano

Sutera S; Giachino DF; Pelle A; Zuntini R; Pentenero M;

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7.

2021
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Bezzina CR; Behr ER; Barc J; Probst V; Ohno S; Redon R; Schott JJ; Aiba T; Shimizu W; Schwartz PJ; Schulze-Bahr E; Makita N; Priori SG; Gimeno JR; Hasdemir C; Guicheney P; Brugada J; Ackerman MJ; Brugada R; Giachino DF; Robyns T; Brugada P; Kääb S; Yoshinaga M; Saenen JB; Nakajima T; Hayashi K; Rydberg A; Borggrefe M; et alii...

Ventricular conduction delay as marker of risk in Brugada Syndrome. Results from the analysis of clinical and electrocardiographic features of a large cohort of patients. in International journal of cardiology / Int J Cardiol. 2020 Mar 1;302:171-177. doi: 10.1016/j.ijcard.2019.11.121. Epub 2019 Nov 18.

2020
ASL Vercelli
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Gaita F; Bergamasco L; Borggrefe M; Biava LM; Carvalho P; Gribaudo E; Barbonaglia L; Giachino DF; Cerrato N; Rudic B; Tülümen E; Giustetto C; Nangeroni G;

Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis. in Endocrine / Endocrine. 2018 Sep;61(3):403-406. doi: 10.1007/s12020-018-1569-5. Epub 2018 Mar 7.

2018
AOU San Luigi di Orbassano

Tabaro I; Reimondo G; Osella G; Aurizi C; Caraci P; Barbieri L; Giachino DF; Sirchia F; Terzolo M;

Workload measurement for molecular genetics laboratory: A survey study. in PloS one / PLoS One. 2018 Nov 27;13(11):e0206855. doi: 10.1371/journal.pone.0206855. eCollection 2018.

2018
AOU San Luigi di Orbassano

Tagliafico E; Bernardis I; Grasso M; D'Apice MR; Lapucci C; Botta A; Giachino DF; Marinelli M; Primignani P; Russo S; Sani I; Seia M; Fini S; Rimessi P; Tenedini E; Ravani A; Genuardi M; Ferlini A;

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...

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;

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology / Neurol Sci. 2014 Aug;35(8):1303-5. doi: 10.1007/s10072-014-1696-6. Epub 2014 Mar 2.

2014
AOU San Luigi di Orbassano

Mandrile G; Gallus GN; Mura G; Di Sapio A; Sotgiu MA; Montella A; Giachino DF; Dotti MT; Ulgheri L; Federico A;

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. in Case reports in genetics / Case Rep Genet. 2014;2014:470830. doi: 10.1155/2014/470830. Epub 2014 Nov 23.

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

Savin E; Giachino DF; Grosso E; Brussino A; Calcia A; Di Gregorio E; Mandrile G; Brusco A;

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;