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Items: 43

1.

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.

Burgmaier K, Kunzmann K, Ariceta G, Bergmann C, Buescher AK, Burgmaier M, Dursun I, Duzova A, Eid L, Erger F, Feldkoetter M, Galiano M, Geßner M, Goebel H, Gokce I, Haffner D, Hooman N, Hoppe B, Jankauskiene A, Klaus G, König J, Litwin M, Massella L, Mekahli D, Melek E, Mir S, Pape L, Prikhodina L, Ranchin B, Schild R, Seeman T, Sever L, Shroff R, Soliman NA, Stabouli S, Stanczyk M, Tabel Y, Taranta-Janusz K, Testa S, Thumfart J, Topaloglu R, Weber LT, Wicher D, Wühl E, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Zerres K; ESCAPE Study Group; GPN Study Group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium.

J Pediatr. 2018 Aug;199:22-28.e6. doi: 10.1016/j.jpeds.2018.03.052. Epub 2018 May 9.

PMID:
29753540
2.

Prevalence of Hypertension in Children with Early-Stage ADPKD.

Massella L, Mekahli D, Paripović D, Prikhodina L, Godefroid N, Niemirska A, Ağbaş A, Kalicka K, Jankauskiene A, Mizerska-Wasiak M, Afonso AC, Salomon R, Deschênes G, Ariceta G, Özçakar ZB, Teixeira A, Duzova A, Harambat J, Seeman T, Hrčková G, Lungu AC, Papizh S, Peco-Antic A, De Rechter S, Giordano U, Kirchner M, Lutz T, Schaefer F, Devuyst O, Wühl E, Emma F.

Clin J Am Soc Nephrol. 2018 Jun 7;13(6):874-883. doi: 10.2215/CJN.11401017. Epub 2018 Apr 19.

PMID:
29674338
3.

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.

Kashtan CE, Ding J, Garosi G, Heidet L, Massella L, Nakanishi K, Nozu K, Renieri A, Rheault M, Wang F, Gross O.

Kidney Int. 2018 May;93(5):1045-1051. doi: 10.1016/j.kint.2017.12.018. Epub 2018 Mar 16.

PMID:
29551517
4.

Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome.

Daga S, Baldassarri M, Lo Rizzo C, Fallerini C, Imperatore V, Longo I, Frullanti E, Landucci E, Massella L, Pecoraro C, Garosi G, Ariani F, Mencarelli MA, Mari F, Renieri A, Pinto AM.

Hum Mutat. 2018 Feb;39(2):302-314. doi: 10.1002/humu.23364. Epub 2017 Nov 22.

PMID:
29098738
5.

A randomized clinical trial indicates that levamisole increases the time to relapse in children with steroid-sensitive idiopathic nephrotic syndrome.

Gruppen MP, Bouts AH, Jansen-van der Weide MC, Merkus MP, Zurowska A, Maternik M, Massella L, Emma F, Niaudet P, Cornelissen EAM, Schurmans T, Raes A, van de Walle J, van Dyck M, Gulati A, Bagga A, Davin JC; all members of the Levamisole Study Group.

Kidney Int. 2018 Feb;93(2):510-518. doi: 10.1016/j.kint.2017.08.011. Epub 2017 Oct 18.

6.

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepańska M, Bieniaś B, Drożdż D, Odeh R, Jarmużek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F; PodoNet Consortium.

PLoS One. 2017 Aug 10;12(8):e0180926. doi: 10.1371/journal.pone.0180926. eCollection 2017.

7.

The Italian Society for Pediatric Nephrology (SINePe) consensus document on the management of nephrotic syndrome in children: Part I - Diagnosis and treatment of the first episode and the first relapse.

Pasini A, Benetti E, Conti G, Ghio L, Lepore M, Massella L, Molino D, Peruzzi L, Emma F, Fede C, Trivelli A, Maringhini S, Materassi M, Messina G, Montini G, Murer L, Pecoraro C, Pennesi M.

Ital J Pediatr. 2017 Apr 21;43(1):41. doi: 10.1186/s13052-017-0356-x. Review.

8.

Minimal Change Disease.

Vivarelli M, Massella L, Ruggiero B, Emma F.

Clin J Am Soc Nephrol. 2017 Feb 7;12(2):332-345. doi: 10.2215/CJN.05000516. Epub 2016 Dec 9. Review.

9.

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Morimoto M, Myung C, Beirnes K, Choi K, Asakura Y, Bokenkamp A, Bonneau D, Brugnara M, Charrow J, Colin E, Davis A, Deschenes G, Gentile M, Giordano M, Gormley AK, Govender R, Joseph M, Keller K, Lerut E, Levtchenko E, Massella L, Mayfield C, Najafian B, Parham D, Spranger J, Stenzel P, Yis U, Yu Z, Zonana J, Hendson G, Boerkoel CF.

Orphanet J Rare Dis. 2016 Nov 5;11(1):149.

10.

Rituximab in steroid-dependent or frequently relapsing idiopathic nephrotic syndrome.

Ruggenenti P, Ruggiero B, Cravedi P, Vivarelli M, Massella L, Marasà M, Chianca A, Rubis N, Ene-Iordache B, Rudnicki M, Pollastro RM, Capasso G, Pisani A, Pennesi M, Emma F, Remuzzi G; Rituximab in Nephrotic Syndrome of Steroid-Dependent or Frequently Relapsing Minimal Change Disease Or Focal Segmental Glomerulosclerosis (NEMO) Study Group.

J Am Soc Nephrol. 2014 Apr;25(4):850-63. doi: 10.1681/ASN.2013030251. Epub 2014 Jan 30.

11.

Bone marrow transplantation in Schimke immuno-osseous dysplasia.

Baradaran-Heravi A, Lange J, Asakura Y, Cochat P, Massella L, Boerkoel CF.

Am J Med Genet A. 2013 Oct;161A(10):2609-13. doi: 10.1002/ajmg.a.36111. Epub 2013 Aug 15. Review.

12.

Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.

Massella L, Gangemi C, Giannakakis K, Crisafi A, Faraggiana T, Fallerini C, Renieri A, Muda AO, Emma F.

Clin J Am Soc Nephrol. 2013 May;8(5):749-55. doi: 10.2215/CJN.07510712. Epub 2013 Jan 31.

13.

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Morimoto M, Yu Z, Stenzel P, Clewing JM, Najafian B, Mayfield C, Hendson G, Weinkauf JG, Gormley AK, Parham DM, Ponniah U, André JL, Asakura Y, Basiratnia M, Bogdanović R, Bokenkamp A, Bonneau D, Buck A, Charrow J, Cochat P, Cordeiro I, Deschenes G, Fenkçi MS, Frange P, Fründ S, Fryssira H, Guillen-Navarro E, Keller K, Kirmani S, Kobelka C, Lamfers P, Levtchenko E, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Saraiva JM, Semerci CN, Shoemaker L, Stajić N, Stein A, Taha D, Wand D, Zonana J, Lücke T, Boerkoel CF.

Orphanet J Rare Dis. 2012 Sep 22;7:70. doi: 10.1186/1750-1172-7-70.

14.

Dental abnormalities in Schimke immuno-osseous dysplasia.

Morimoto M, Kérourédan O, Gendronneau M, Shuen C, Baradaran-Heravi A, Asakura Y, Basiratnia M, Bogdanovic R, Bonneau D, Buck A, Charrow J, Cochat P, Dehaai KA, Fenkçi MS, Frange P, Fründ S, Fryssira H, Keller K, Kirmani S, Kobelka C, Kohler K, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Olney AH, Semerci CN, Stajic N, Stein A, Taque S, Zonana J, Lücke T, Hendson G, Bonnaure-Mallet M, Boerkoel CF.

J Dent Res. 2012 Jul;91(7 Suppl):29S-37S.

15.

Rituximab in children with resistant idiopathic nephrotic syndrome.

Magnasco A, Ravani P, Edefonti A, Murer L, Ghio L, Belingheri M, Benetti E, Murtas C, Messina G, Massella L, Porcellini MG, Montagna M, Regazzi M, Scolari F, Ghiggeri GM.

J Am Soc Nephrol. 2012 Jun;23(6):1117-24. doi: 10.1681/ASN.2011080775. Epub 2012 May 10.

16.

Advances in Alport syndrome diagnosis using next-generation sequencing.

Artuso R, Fallerini C, Dosa L, Scionti F, Clementi M, Garosi G, Massella L, Epistolato MC, Mancini R, Mari F, Longo I, Ariani F, Renieri A, Bruttini M.

Eur J Hum Genet. 2012 Jan;20(1):50-7. doi: 10.1038/ejhg.2011.164. Epub 2011 Sep 7.

17.

[TRPC6 mutations in children with steroid-resistant nephrotic syndrome].

Gigante M, Caridi G, Montemurno E, Trunzo R, Schirinzi A, Aucella F, Messina G, Massella L, Ranieri E, Ghiggeri GM, Gesualdo L.

G Ital Nefrol. 2011 Jul-Aug;28(4):350-2. Italian. No abstract available.

PMID:
21809298
18.

TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.

Gigante M, Caridi G, Montemurno E, Soccio M, d'Apolito M, Cerullo G, Aucella F, Schirinzi A, Emma F, Massella L, Messina G, De Palo T, Ranieri E, Ghiggeri GM, Gesualdo L.

Clin J Am Soc Nephrol. 2011 Jul;6(7):1626-34. doi: 10.2215/CJN.07830910.

19.

Cobalamin C defect presenting as severe neonatal hyperammonemia.

Martinelli D, Dotta A, Massella L, Picca S, Di Pede A, Boenzi S, Aiello C, Dionisi-Vici C.

Eur J Pediatr. 2011 Jul;170(7):887-90. doi: 10.1007/s00431-010-1371-8. Epub 2010 Dec 10.

PMID:
21153419
20.

Cyclosporine A treatment in patients with Alport syndrome: a single-center experience.

Massella L, Muda AO, Legato A, Di Zazzo G, Giannakakis K, Emma F.

Pediatr Nephrol. 2010 Jul;25(7):1269-75. doi: 10.1007/s00467-010-1484-3. Epub 2010 Mar 18.

PMID:
20238228
21.

Time for initial response to steroids is a major prognostic factor in idiopathic nephrotic syndrome.

Vivarelli M, Moscaritolo E, Tsalkidis A, Massella L, Emma F.

J Pediatr. 2010 Jun;156(6):965-971. doi: 10.1016/j.jpeds.2009.12.020. Epub 2010 Mar 10.

PMID:
20223477
22.

Idiopathic membranous nephropathy associated with polycystic kidney disease.

Kengne-Wafo S, Massella L, Diomedi-Camassei F, Emma F.

Pediatr Nephrol. 2010 May;25(5):961-3. doi: 10.1007/s00467-009-1398-0. Epub 2009 Dec 22.

PMID:
20033222
23.

Risk factors for cyclosporin A nephrotoxicity in children with steroid-dependant nephrotic syndrome.

Kengne-Wafo S, Massella L, Diomedi-Camassei F, Gianviti A, Vivarelli M, Greco M, Stringini GR, Emma F.

Clin J Am Soc Nephrol. 2009 Sep;4(9):1409-16. doi: 10.2215/CJN.01520209. Epub 2009 Jul 23.

24.

Type VII collagen in Alport syndrome.

Giannakakis K, Massella L, Grassetti D, Dotta F, Perez M, Muda AO.

Nephrol Dial Transplant. 2007 Dec;22(12):3501-7. Epub 2007 Aug 1.

PMID:
17670768
25.

Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype.

Taranta A, Palma A, De Luca V, Romanzo A, Massella L, Emma F, Dello Strologo L.

Clin Nephrol. 2007 Jan;67(1):1-4.

PMID:
17269592
26.

Lack of cardiac anomalies in children with NPHS2 mutations.

Caridi G, Dagnino M, Carrea A, Massella L, Amore A, Emma F, Coppo R, Perfumo F, Ghiggeri GM.

Nephrol Dial Transplant. 2007 May;22(5):1477-9. Epub 2007 Jan 11. No abstract available.

PMID:
17218332
27.

[Thin basement membrane and Alport syndrome].

Massella L, Emma F, Onetti Muda A.

G Ital Nefrol. 2006 Sep-Oct;23(5):519-23. Italian.

PMID:
17123266
28.

Differential diagnosis between X-linked Alport syndrome and thin basement membrane nephropathy.

Rizzoni G, Massella L.

Kidney Int. 2004 Sep;66(3):1289-90; author reply 1290. No abstract available.

29.

Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease.

Massella L, Onetti Muda A, Faraggiana T, Bette C, Renieri A, Rizzoni G.

Kidney Int. 2003 Nov;64(5):1787-91.

30.

Confocal microscopy of the skin in the diagnosis of X-linked Alport syndrome.

Muda AO, Massella L, Giannakakis K, Renieri A, Rizzoni G, Faraggiana T.

J Invest Dermatol. 2003 Jul;121(1):208-11. No abstract available.

31.

Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin.

Bertelli R, Ginevri F, Caridi G, Dagnino M, Sandrini S, Di Duca M, Emma F, Sanna-Cherchi S, Scolari F, Neri TM, Murer L, Massella L, Basile G, Rizzoni G, Perfumo F, Ghiggeri GM.

Am J Kidney Dis. 2003 Jun;41(6):1314-21.

PMID:
12776285
32.

Broadening the spectrum of diseases related to podocin mutations.

Caridi G, Bertelli R, Di Duca M, Dagnino M, Emma F, Onetti Muda A, Scolari F, Miglietti N, Mazzucco G, Murer L, Carrea A, Massella L, Rizzoni G, Perfumo F, Ghiggeri GM.

J Am Soc Nephrol. 2003 May;14(5):1278-86.

33.

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frascá G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M.

Kidney Int. 2002 Jun;61(6):1947-56.

34.

Distribution of alpha-chains of type IV collagen in glomerular basement membranes with ultrastructural alterations suggestive of Alport syndrome.

Barsotti P, Muda AO, Mazzucco G, Massella L, Basolo B, De Marchi M, Rizzoni G, Monga G, Faraggiana T.

Nephrol Dial Transplant. 2001 May;16(5):945-52.

PMID:
11328899
35.

Alpha 5 COLIV chain distribution in glomerular basement membrane in a male with X-linked Alport syndrome and thin basement membrane.

Rizzoni G, Massella L, Muda AO.

Pediatr Nephrol. 2000 Dec;15(3-4):325. No abstract available.

PMID:
11149132
36.
37.

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M.

Am J Hum Genet. 1996 Jun;58(6):1192-204.

38.

Cyclosporine-induced transient renal hypoperfusion in adolescent transplant recipients.

Dello Strologo L, Massella L, Rizzoni G.

Pediatr Nephrol. 1996 Feb;10(1):81-3.

PMID:
8611366
39.

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.

Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, De Marchi M.

Am J Med Genet. 1995 Nov 20;59(3):380-5.

PMID:
8599366
40.

A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.

Turco AE, Rossetti S, Biasi MO, Rizzoni G, Massella L, Saarinen NH, Renieri A, Pignatti PF, De Marchi M.

Clin Genet. 1995 Nov;48(5):261-3.

PMID:
8825605
41.

De-novo COL4A5 gene mutations in Alport's syndrome.

Massella L, Rizzoni G, De Blasis R, Barsotti P, Faraggiana T, Renieri A, Seri M, Galli L, De Marchi M.

Nephrol Dial Transplant. 1994;9(10):1408-11.

PMID:
7816253
42.

Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.

Renieri A, Seri M, Galli L, Cosci P, Imbasciati E, Massella L, Rizzoni G, Restagno G, Carbonara AO, Stramignoni E, et al.

Hum Genet. 1993 Oct;92(4):417-20.

PMID:
8225325
43.

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.

Renieri A, Seri M, Myers JC, Pihlajaniemi T, Massella L, Rizzoni G, De Marchi M.

Hum Mol Genet. 1992 May;1(2):127-9.

PMID:
1363780

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