Sfoglia per AUTORE
MANDRILE G
Collezione AOU San Luigi di Orbassano

  

Items : 31

Effect of the allelic background on the phenotype of primary hyperoxaluria type I. in Current opinion in nephrology and hypertension / Curr Opin Nephrol Hypertens. 2025 Mar 1;34(2):177-183. doi: 10.1097/MNH.0000000000001057. Epub 2024
2025
AOU San Luigi di Orbassano

Mandrile G; Cellini B; Ferraro PM;

Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1. in Kidney international reports / Kidney Int Rep. 2024 Jul 31;9(10):3006-3015. doi: 10.1016/j.ekir.2024.07.026. eCollection 2024 Oct.
2024
AOU San Luigi di Orbassano

Deesker LJ; Karacoban HA; Metry EL; Garrelfs SF; Bacchetta J; Boyer O; Collard L; Devresse A; Hayes W; Hulton SA; Martin-Higueras C; Moochhala SH; Neuhaus TJ; Oh J; Prikhodina L; Sikora P; Oosterveld MJS; Groothoff JW; Mandrile G; Beck BB;

Identification of the DNA methylation signature of Mowat-Wilson syndrome. in European journal of human genetics : EJHG / Eur J Hum Genet. 2024 Jun;32(6):619-629. doi: 10.1038/s41431-024-01548-4. Epub 2024 Feb 13.
2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Trajkova S; Zuntini R; Relator R; Haghshenas S; Levy MA; Garavelli L; Sadikovic B; Ferrero GB; Tartaglia M; McConkey H; Zollino M; Pullano V; Brusco A; Pavinato L; Ivanovski I; Fetta A; Sukarova E; Lauzon C; Cordelli DM; Mandrile G; Baldo C; Rooney K; Caraffi SG; van der Laan L;

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity. in HGG advances / HGG Adv. 2024 Jul 18;5(3):100309. doi: 10.1016/j.xhgg.2024.100309. Epub 2024 May 15.
2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Mussa A; Banka S; Jenkinson S; Metcalfe K; Campbell CM; Sukarova-Angelovska E; Pasini B; Petlichkovski A; McConkey H; Rooney K; Rzasa J; Dimartino P; Pippucci T; Giorgio E; Rinninella A; Pullano V; Cardaropoli S; Carestiato S; Mandrile G; Palermo F; Marinoni R; Carli D; Di Gregorio E; Ferrero E; Giovenino C; Pavinato L; Rossi Sebastiano M; Trajkova S; Kerkhof J; et alii...

Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium. in Kidney international reports / Kidney Int Rep. 2023 Aug 4;8(10):2029-2042. doi: 10.1016/j.ekir.2023.07.025. eCollection 2023 Oct.
2023
AOU San Luigi di Orbassano

Metry EL; Garrelfs SF; Deesker LJ; Acquaviva C; D'Ambrosio V; Bacchetta J; Beck BB; Cochat P; Collard L; Hogan J; Ferraro PM; Franssen CFM; Harambat J; Hulton SA; Lipkin GW; Mandrile G; Martin-Higueras C; Mohebbi N; Moochhala SH; Neuhaus TJ; Prikhodina L; Salido E; Topaloglu R; Oosterveld MJS; Groothoff JW; Peters-Sengers H;

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6.
2023
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Delledonne M; Rossato M; Tartaglia M; Pippucci T; De Rubeis S; Buxbaum JD; Pasini B; Mandrile G; Bruselles A; Froukh T; Dimartino P; Mussa A; Palermo F; Carli D; Battaglia A; Bertoli L; Fadda A; Rinninella A; Salmin P; Carestiato S; Sukarova-Angelovska E; Ferrero E; Brusco A; Pullano V; Cardaropoli S; Pavinato L; Trajkova S; Giovenino C; et alii...

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. in Nature reviews. Nephrology / Nat Rev Nephrol. 2023 Mar;19(3):194-211. doi: 10.1038/s41581-022-00661-1. Epub 2023 Jan 5.
2023
AOU San Luigi di Orbassano

Groothoff JW; Metry E; Deesker L; Garrelfs S; Acquaviva C; Almardini R; Beck BB; Boyer O; Cerkauskiene R; Ferraro PM; Groen LA; Gupta A; Knebelmann B; Mandrile G; Moochhala SS; Prytula A; Putnik J; Rumsby G; Soliman NA; Somani B; Bacchetta J;

Genetic assessment in primary hyperoxaluria: why it matters. in Pediatric nephrology (Berlin, Germany) / Pediatr Nephrol. 2023 Mar;38(3):625-634. doi: 10.1007/s00467-022-05613-2. Epub 2022 Jun 13.
2023
AOU San Luigi di Orbassano

Gupta A; Bacchetta J; Garrelfs S; Deesker L; Rumsby G; Acquaviva C; Beck B; Mandrile G; Groothoff J;

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. in American journal of human genetics / Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30.
2023
AOU San Luigi di Orbassano

Skraban C; Shukarova-Angelovska E; Scheuerle AE; Sellars EA; Reymond A; Schwager CR; Redon S; Rauch A; Rahimi-Aliabadi S; Quélin C; Pugh J; Pullano V; Prijoles EJ; Osmond M; Noyes AG; Nowak CB; Niceta M; Noskova L; Newberry KM; Natowicz M; Napier MP; Montgomery S; Meeks NJL; Medne L; Meadows SK; McEown M; Mattioli F; Mandrile G; Magner M; et alii...

First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE). in Journal of clinical medicine / J Clin Med. 2022 Sep 15;11(18):5426. doi: 10.3390/jcm11185426.
2022
AOU San Luigi di Orbassano

Mandrile G; Barella S; Giambona A; Gigante A; Grosso M; Perrotta S; Scianguetta S; Forni GL;

Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry. in Kidney international reports / Kidney Int Rep. 2022 Apr 20;7(7):1608-1618. doi: 10.1016/j.ekir.2022.04.012. eCollection 2022 Jul.
2022
AOU San Luigi di Orbassano

Deesker LJ; Garrelfs SF; Mandrile G; Oosterveld MJS; Cochat P; Deschênes G; Harambat J; Hulton SA; Gupta A; Hoppe B; Beck BB; Collard L; Topaloglu R; Prikhodina L; Salido E; Neuhaus T; Groothoff JW; Bacchetta J;

Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry. in Kidney international reports / Kidney Int Rep. 2021 Nov 26;7(2):210-220. doi: 10.1016/j.ekir.2021.11.006. eCollection 2022 Feb.
2022
AOU San Luigi di Orbassano

Prikhodina L; Hoppe B; Oosterveld MJS; Moochhala SH; Mohebbi N; Mandrile G; Lipkin GW; Kemper MJ; Franssen C; Deschênes G; Collard L; Beck BB; Bacchetta J; Acquaviva C; Hulton SA; Peters-Sengers H; Garrelfs SF; Metry EL; Cochat P; Groothoff JW;

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. in American journal of medical genetics. Part A / Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22.
2022
AOU San Luigi di Orbassano

Sy MR; Chauhan J; Prescott K; Imam A; Kraus A; Beleza A; Salkeld L; Hosdurga S; Parker M; Vasudevan P; Islam L; Goel H; Bain N; Park SM; Mohammed S; Dieterich K; Coutton C; Satre V; Vieville G; Donaldson A; Beneteau C; Ghoumid J; Van Den Bogaert K; Boogaerts A; Boudry E; Vanlerberghe C; Petit F; Bernardini L; Torres B; et alii...

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;

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. in Brain : a journal of neurology / Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124.
2021
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Rehm HL; Casasnovas C; Adams DR; de Souza P; Marcé-Grau A; Canonico F; Iascone M; Fossati C; Sala-Coromina J; Rouvet I; Schlüter A; Goizet C; Ruiz M; Michaud V; Chacón A; Barredo E; O'Heir E; O'Leary M; Mandrile G; Pavinato L; Saettini F; Benkirane M; Roubertie A; Raspall-Chaure M; de la Calle I; Planas-Serra L; Vélez-Santamaria V; Rodríguez-Palmero A; Verdura E; et alii...

DLG4-related synaptopathy: a new rare brain disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17.
2021
AOU San Luigi di Orbassano

Rodríguez-Palmero A; Boerrigter MM; Gómez-Andrés D; Aldinger KA; Marcos-Alcalde Í; Popp B; Everman DB; Lovgren AK; Arpin S; Bahrambeigi V; Beunders G; Bisgaard AM; Bjerregaard VA; Bruel AL; Challman TD; Cogné B; Coubes C; de Man SA; Denommé-Pichon AS; Dye TJ; Elmslie F; Feuk L; García-Miñaúr S; Gertler T; Giorgio E; Gruchy N; Haack TB; Haldeman-Englert CR; Haukanes BI; et alii...

Combined liver kidney transplantation for primary hyperoxaluria type 1: Will there still be a future? Current transplantation strategies and monocentric experience. in Pediatric transplantation / Pediatr Transplant. 2021 Jun;25(4):e14003. doi: 10.1111/petr.14003. Epub 2021 Mar 20.
2021
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Romagnoli R; Amoroso A; Salizzoni M; Dell'Olio D; Pinon M; Mandrile G; Calvo PL; Camilla R; Peruzzi L; Catalano S; Cussa D; Tandoi F;

[Management of Primary Hyperoxaluria Type 1 in Italy]. in Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia / G Ital Nefrol. 2021 Apr 14;38(2):2021-vol2.
2021
AOU San Luigi di Orbassano

Ferraro PM; Gambaro G; Mandrile G; Montini G; Pasini A; Peruzzi L;

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;

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...

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. in American journal of medical genetics. Part A / Am J Med Genet A. 2017 Mar;173(3):601-610. doi: 10.1002/ajmg.a.37991. Epub 2017 Jan 27.
2017
AOU San Luigi di Orbassano

Tenorio J; Álvarez I; Riancho-Zarrabeitia L; Martos-Moreno GÁ; Mandrile G; de la Flor Crespo M; Sukchev M; Sherif M; Kramer I; Darnaude-Ortiz MT; Arias P; Gordo G; Dapía I; Martinez-Villanueva J; Gómez R; Iturzaeta JM; Otaify G; García-Unzueta M; Rubinacci A; Riancho JA; Aglan M; Temtamy S; Hamid MA; Argente J; Ruiz-Pérez VL; Heath KE; Lapunzina P;

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;

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;

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. in Kidney international / Kidney Int. 2014 Dec;86(6):1197-204. doi: 10.1038/ki.2014.222. Epub 2014 Jul 2.
2014
AOU San Luigi di Orbassano

Mandrile G; van Woerden CS; Berchialla P; Beck BB; Acquaviva Bourdain C; Hulton SA; Rumsby G;

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;

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. in Molecular cytogenetics / Mol Cytogenet. 2014 Nov 19;7(1):82. doi: 10.1186/s13039-014-0082-7. eCollection 2014.
2014
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Botta G; Mandrile G; Restagno G; Asnaghi V; Grosso M; Gandione M; Pappi P; Talarico F; Cavalieri S; Giorgio E; Mancini C; Calcia A; Fiocchi F; Gai G; Naretto VG; D'Alessandro G; Belligni EF; Biamino E; Savin E; Di Gregorio E; Silengo MC; Grosso E; Ferrero GB; Brusco 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;

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;