Sfoglia per AUTORE
PELLE A
Collezione AOU San Luigi di Orbassano

  

Items : 9

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...

A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature. in Clinical dysmorphology / Clin Dysmorphol. 2021 Jan;30(1):39-43. doi: 10.1097/MCD.0000000000000352.
2021
AOU San Luigi di Orbassano

Pelle A; Pezzoli L; Apuril E; Iascone M; Selicorni A;

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;

Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up. in Kidney international / Kidney Int. 2019 Dec;96(6):1389-1399. doi: 10.1016/j.kint.2019.08.018. Epub 2019 Sep 3.
2019
AOU San Luigi di Orbassano

Garrelfs SF; Rumsby G; Peters-Sengers H; Erger F; Groothoff JW; Beck BB; Oosterveld MJS; Pelle A; Neuhaus T; Adams B; Cochat P; Salido E; Lipkin GW; Hoppe B; Hulton SA;

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;

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