Sfoglia per AUTORE
GIACHINO D
Collezione AOU San Luigi di Orbassano

  

Items : 29

A case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome. in Tumori / Tumori. 2024 Dec;110(6):NP5-NP10. doi: 10.1177/03008916241255485. Epub 2024 May 23.
2024
AOU San Luigi di Orbassano

Cognigni V; Capelletto E; Bordi P; Pavese V; Carfì FM; Gelsomino F; De Giglio A; Chiari R; Minari R; Ambrosini E; Percesepe A; Giachino D; Bironzo P; Tiseo M;

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility. in Human genetics / Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20.
2023
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Fusco C; Petracca A; Selicorni A; Majore S; Di Giosaffatte N; Lodato V; Ferraris A; Savasta S; Iolascon A; Trabatti C; Mammi C; Foiadelli T; Priolo M; De Maggio I; Piscopo C; Pasini B; Zonta A; Grosso E; Cantone R; Zollino M; Lastella P; Busè M; Salzano E; Piccione M; Baldo D; Turolla L; Celli L; Giachino D; Pracella R; et alii...

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

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...

Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment. in European journal of cancer (Oxford, England : 1990) / Eur J Cancer. 2022 Mar;163:44-54. doi: 10.1016/j.ejca.2021.12.023. Epub 2022 Jan 13.
2022
AOU Alessandria
ASL Alessandria
AOU San Luigi di Orbassano
AOU Città della Salute di Torino
AOU Novara

Dianzani I; Matullo G; Magnani C; Ferrante D; Moro L; Migliore E; Mirabelli D; Papotti M; Scagliotti GV; Giachino D; Boldorini R; Aspesi A; Pinton G; Clavenna MG; Casalone E; Allione A; Grosso F; Libener R; Muzio A; Baietto G; Parini S; Sculco M; La Vecchia M; Rena O;

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;

Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease. in Journal of nephrology / J Nephrol. 2022 Apr;35(3):841-850. doi: 10.1007/s40620-022-01258-4. Epub 2022 Feb 26.
2022
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Cellini B; Vitale C; Romagnoli R; Petrarulo M; Peruzzi L; Montini G; Emma F; Benetti E; D'Alessandro MM; Pelle A; Sciannameo V; Giachino D; Mandrile G;

Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience. in Journal of nephrology / J Nephrol. 2021 Oct;34(5):1767-1781. doi: 10.1007/s40620-020-00898-8. Epub 2020 Nov 23.
2021
ASL Alessandria
ASL Cuneo 1
ASL Città di Torino
ASL Torino 3
ASL Torino 4
ASL VCO
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Deaglio S; Amoroso A; Roccatello D; Peruzzi L; Chiappero F; Savoldi S; Ungari S; Borzumati M; Cantaluppi V; Bussolino S; Biancone L; Calabrese G; Vitale C; Tamagnone M; Sciascia S; Fenoglio R; Rollino C; Baldovino S; Benvenuta C; Cocchi E; Pelle A; Giachino D; Togliatto G; Vanzino SB; Rendine S; Arruga F; Bracciamà V; Callegari M; Kalantari S; et alii...

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...

The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization. in Molecular genetics and metabolism / Mol Genet Metab. 2020 Sep-Oct;131(1-2):171-180. doi: 10.1016/j.ymgme.2020.07.012. Epub 2020 Aug 7.
2020
AOU San Luigi di Orbassano

Dindo M; Mandrile G; Conter C; Montone R; Giachino D; Pelle A; Costantini C; Cellini B;

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;

Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child. in Indian journal of nephrology / Indian J Nephrol. 2017 Sep-Oct;27(5):402-405. doi: 10.4103/ijn.IJN_261_16.
2017
AOU San Luigi di Orbassano

Krishnamurthy S; Kartha GB; Venkateswaran VS; Prasannakumar M; Mahadevan S; Gowda M; Pelle A; Giachino D;

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;

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;

The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene. in HeartRhythm case reports / HeartRhythm Case Rep. 2015 Jul 14;1(5):373-378. doi: 10.1016/j.hrcr.2015.07.001. eCollection 2015 Se
2015
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Mognetti B; Rapezzi C; Giachino D; Scrocco C; Giustetto C; Gaita F;

Usefulness of exercise test in the diagnosis of short QT syndrome. in Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology / Europace. 2015 Apr;17(4):628-34. doi: 10.1093/europace/euu351.
2015
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Antzelevitch C; Borggrefe M; Giachino D; Wolpert C; Gribaudo E; Cerrato N; Dalmasso P; Anttonen O; Levetto M; Mazzanti A; Maury P; Schimpf R; Scrocco C; Giustetto C; Gaita F;

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;

Mammalian target of rapamycin pathway activation is associated to RET mutation status in medullary thyroid carcinoma. in The Journal of clinical endocrinology and metabolism / J Clin Endocrinol Metab. 2011 Jul;96(7):2146-53. doi: 10.1210/jc.2010-2655. Epub 2011 May 4.
2011
AOU San Luigi di Orbassano

Rapa I; Saggiorato E; Giachino D; Palestini N; Orlandi F; Papotti M; Volante M;

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;

RAS mutations are the predominant molecular alteration in poorly differentiated thyroid carcinomas and bear prognostic impact. in The Journal of clinical endocrinology and metabolism / J Clin Endocrinol Metab. 2009 Dec;94(12):4735-41. doi: 10.1210/jc.2009-1233. Epub 2009 Oct 16.
2009
AOU San Luigi di Orbassano

Volante M; Rapa I; Gandhi M; Bussolati G; Giachino D; Papotti M; Nikiforov YE;

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;

Stage IB malignant thymoma in a Lynch syndrome patient with multiple cancers: response to incidental administration of oxaliplatin and 5-fluorouracil. in Journal of chemotherapy (Florence, Italy) / J Chemother. 2006 Aug;18(4):433-6. doi: 10.1179/joc.2006.18.4.433.
2006
AOU San Luigi di Orbassano

Tampellini M; Alabiso I; Sculli CM; Barberis M; Giachino D; Berruti A; Dogliotti L;

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. in Journal of human genetics / J Hum Genet. 2006;51(3):209-216. doi: 10.1007/s10038-005-0348-3. Epub 2006 Feb 4.
2006
AOU San Luigi di Orbassano

Sampieri K; Hadjistilianou T; Mari F; Speciale C; Mencarelli MA; Cetta F; Manoukian S; Peissel B; Giachino D; Pasini B; Acquaviva A; Caporossi A; Frezzotti R; Renieri A; Bruttini M;