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Items: 1 to 50 of 51

1.

Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.

Valoti E, Alberti M, Iatropoulos P, Piras R, Mele C, Breno M, Cremaschi A, Bresin E, Donadelli R, Alizzi S, Amoroso A, Benigni A, Remuzzi G, Noris M.

Front Immunol. 2019 May 1;10:853. doi: 10.3389/fimmu.2019.00853. eCollection 2019.

2.

Hemolytic Uremic Syndrome in an Infant with Primary Hyperoxaluria Type II: An Unreported Clinical Association.

Valoti E, Alberti M, Carrara C, Breno M, Yilmaz Keskin E, Bresin E, Cuccarolo P, Açikgöz Y, Benigni A, Noris M, Remuzzi G, Mele C.

Nephron. 2019;142(3):264-270. doi: 10.1159/000497823. Epub 2019 Mar 19.

PMID:
30889567
3.

An Ex Vivo Test of Complement Activation on Endothelium for Individualized Eculizumab Therapy in Hemolytic Uremic Syndrome.

Galbusera M, Noris M, Gastoldi S, Bresin E, Mele C, Breno M, Cuccarolo P, Alberti M, Valoti E, Piras R, Donadelli R, Vivarelli M, Murer L, Pecoraro C, Ferrari E, Perna A, Benigni A, Portalupi V, Remuzzi G.

Am J Kidney Dis. 2019 Jul;74(1):56-72. doi: 10.1053/j.ajkd.2018.11.012. Epub 2019 Mar 7.

PMID:
30851964
4.

Cluster Analysis Identifies Distinct Pathogenetic Patterns in C3 Glomerulopathies/Immune Complex-Mediated Membranoproliferative GN.

Iatropoulos P, Daina E, Curreri M, Piras R, Valoti E, Mele C, Bresin E, Gamba S, Alberti M, Breno M, Perna A, Bettoni S, Sabadini E, Murer L, Vivarelli M, Noris M, Remuzzi G; Registry of Membranoproliferative Glomerulonephritis/C3 Glomerulopathy; Nastasi.

J Am Soc Nephrol. 2018 Jan;29(1):283-294. doi: 10.1681/ASN.2017030258. Epub 2017 Oct 13.

5.

Interaction between Multimeric von Willebrand Factor and Complement: A Fresh Look to the Pathophysiology of Microvascular Thrombosis.

Bettoni S, Galbusera M, Gastoldi S, Donadelli R, Tentori C, Spartà G, Bresin E, Mele C, Alberti M, Tortajada A, Yebenes H, Remuzzi G, Noris M.

J Immunol. 2017 Aug 1;199(3):1021-1040. doi: 10.4049/jimmunol.1601121. Epub 2017 Jun 26.

6.

Hemolytic Uremic Syndrome in Pregnancy and Postpartum.

Bruel A, Kavanagh D, Noris M, Delmas Y, Wong EKS, Bresin E, Provôt F, Brocklebank V, Mele C, Remuzzi G, Loirat C, Frémeaux-Bacchi V, Fakhouri F.

Clin J Am Soc Nephrol. 2017 Aug 7;12(8):1237-1247. doi: 10.2215/CJN.00280117. Epub 2017 Jun 8.

7.

Insights into the effects of complement factor H on the assembly and decay of the alternative pathway C3 proconvertase and C3 convertase.

Bettoni S, Bresin E, Remuzzi G, Noris M, Donadelli R.

J Biol Chem. 2017 Apr 14;292(15):6094. doi: 10.1074/jbc.A115.693119. No abstract available.

8.

Genetic Atypical Hemolytic-Uremic Syndrome.

Noris M, Bresin E, Mele C, Remuzzi G.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Nov 16 [updated 2016 Jun 9].

9.

Insights into the Effects of Complement Factor H on the Assembly and Decay of the Alternative Pathway C3 Proconvertase and C3 Convertase.

Bettoni S, Bresin E, Remuzzi G, Noris M, Donadelli R.

J Biol Chem. 2016 Apr 8;291(15):8214-30. doi: 10.1074/jbc.M115.693119. Epub 2016 Feb 22. Retraction in: J Biol Chem. 2017 Apr 14;292(15):6094.

10.

Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome.

Iatropoulos P, Noris M, Mele C, Piras R, Valoti E, Bresin E, Curreri M, Mondo E, Zito A, Gamba S, Bettoni S, Murer L, Fremeaux-Bacchi V, Vivarelli M, Emma F, Daina E, Remuzzi G.

Mol Immunol. 2016 Mar;71:131-142. doi: 10.1016/j.molimm.2016.01.010. Epub 2016 Feb 16.

PMID:
26895476
11.

[Genetics of aHUS and transplant recurrence].

Bresin E.

G Ital Nefrol. 2015;32 Suppl 64. pii: gin/32.S64.3. Italian.

PMID:
26479051
12.

ADAMTS13 Secretion and Residual Activity among Patients with Congenital Thrombotic Thrombocytopenic Purpura with and without Renal Impairment.

Rurali E, Banterla F, Donadelli R, Bresin E, Galbusera M, Gastoldi S, Peyvandi F, Underwood M, Remuzzi G, Noris M.

Clin J Am Soc Nephrol. 2015 Nov 6;10(11):2002-12. doi: 10.2215/CJN.01700215. Epub 2015 Sep 4.

13.

Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.

Mele C, Lemaire M, Iatropoulos P, Piras R, Bresin E, Bettoni S, Bick D, Helbling D, Veith R, Valoti E, Donadelli R, Murer L, Neunhäuserer M, Breno M, Frémeaux-Bacchi V, Lifton R, Remuzzi G, Noris M.

Clin J Am Soc Nephrol. 2015 Jun 5;10(6):1011-9. doi: 10.2215/CJN.08520814. Epub 2015 Apr 8.

14.

Dynamics of complement activation in aHUS and how to monitor eculizumab therapy.

Noris M, Galbusera M, Gastoldi S, Macor P, Banterla F, Bresin E, Tripodo C, Bettoni S, Donadelli R, Valoti E, Tedesco F, Amore A, Coppo R, Ruggenenti P, Gotti E, Remuzzi G.

Blood. 2014 Sep 11;124(11):1715-26. doi: 10.1182/blood-2014-02-558296. Epub 2014 Jul 18.

15.

A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.

Valoti E, Alberti M, Tortajada A, Garcia-Fernandez J, Gastoldi S, Besso L, Bresin E, Remuzzi G, Rodriguez de Cordoba S, Noris M.

J Am Soc Nephrol. 2015 Jan;26(1):209-19. doi: 10.1681/ASN.2013121339. Epub 2014 Jun 5.

16.

Post-transplant recurrence of atypical hemolytic uremic syndrome in a patient with thrombomodulin mutation.

Sinibaldi S, Guzzo I, Piras R, Bresin E, Emma F, Dello Strologo L.

Pediatr Transplant. 2013 Dec;17(8):E177-81. doi: 10.1111/petr.12151. Epub 2013 Sep 30.

PMID:
24118826
17.

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.

Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, Mari F, Bruttini M, Renieri A, Ariani F.

Clin Genet. 2014 Sep;86(3):252-7. doi: 10.1111/cge.12258. Epub 2013 Oct 17.

PMID:
24033287
18.

Atypical haemolytic uraemic syndrome with underlying glomerulopathies. A case series and a review of the literature.

Manenti L, Gnappi E, Vaglio A, Allegri L, Noris M, Bresin E, Pilato FP, Valoti E, Pasquali S, Buzio C.

Nephrol Dial Transplant. 2013 Sep;28(9):2246-59. doi: 10.1093/ndt/gft220. Epub 2013 Jun 19. Review.

PMID:
23787552
19.

Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations.

Alberti M, Valoti E, Piras R, Bresin E, Galbusera M, Tripodo C, Thaiss F, Remuzzi G, Noris M.

Am J Transplant. 2013 Aug;13(8):2201-6. doi: 10.1111/ajt.12297. Epub 2013 Jun 3.

20.

Atypical hemolytic uremic syndrome with MCP mutations preceded by respiratory infection.

Yasuda K, Sasaki K, Yamato M, Rakugi H, Isaka Y, Hayashi T, Piras R, Bresin E.

CEN Case Rep. 2013 May;2(1):34-37. doi: 10.1007/s13730-012-0034-1. Epub 2012 Oct 5.

21.

Successful long-term outcome after renal transplantation in a patient with atypical haemolytic uremic syndrome with combined membrane cofactor protein CD46 and complement factor I mutations.

Pabst WL, Neuhaus TJ, Nef S, Bresin E, Zingg-Schenk A, Spartà G.

Pediatr Nephrol. 2013 Jul;28(7):1141-4. doi: 10.1007/s00467-013-2450-7. Epub 2013 Mar 22.

PMID:
23519521
22.

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.

Bresin E, Rurali E, Caprioli J, Sanchez-Corral P, Fremeaux-Bacchi V, Rodriguez de Cordoba S, Pinto S, Goodship TH, Alberti M, Ribes D, Valoti E, Remuzzi G, Noris M; European Working Party on Complement Genetics in Renal Diseases.

J Am Soc Nephrol. 2013 Feb;24(3):475-86. doi: 10.1681/ASN.2012090884. Epub 2013 Feb 21.

23.

A case of familial glomerulopathy with fibronectin deposits caused by the Y973C mutation in fibronectin.

Ertoy Baydar D, Kutlugun AA, Bresin E, Piras R.

Am J Kidney Dis. 2013 Mar;61(3):514-8. doi: 10.1053/j.ajkd.2012.08.050. Epub 2012 Dec 6.

PMID:
23219110
24.

Membrano-proliferative glomerulonephritis, atypical hemolytic uremic syndrome, and a new complement factor H mutation: report of a case.

Gnappi E, Allinovi M, Vaglio A, Bresin E, Sorosina A, Pilato FP, Allegri L, Manenti L.

Pediatr Nephrol. 2012 Oct;27(10):1995-9. doi: 10.1007/s00467-012-2210-0. Epub 2012 Jun 5.

PMID:
22669321
25.

Congenital thrombotic thrombocytopenic purpura (cTTP) with two novel mutations.

Prestidge TD, Rurali E, Wadsworth L, Wu JK, Moore JC, Bresin E.

Pediatr Blood Cancer. 2012 Dec 15;59(7):1296-8. doi: 10.1002/pbc.24159. Epub 2012 Apr 5.

PMID:
22488907
26.

A case of atypical hemolytic uremic syndrome due to anti-factor H antibody in a patient presenting with a factor XII deficiency identified two novel mutations.

Matsukuma E, Gotoh Y, Kuroyanagi Y, Yamada T, Iwasa M, Yamakawa S, Nagai T, Takagi N, Mae H, Iijima K, Bresin E.

Clin Exp Nephrol. 2011 Apr;15(2):269-74. doi: 10.1007/s10157-010-0375-z. Epub 2011 Jan 27.

PMID:
21271273
27.

Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.

Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G.

Clin J Am Soc Nephrol. 2010 Oct;5(10):1844-59. doi: 10.2215/CJN.02210310. Epub 2010 Jul 1.

28.

Rituximab as pre-emptive treatment in patients with thrombotic thrombocytopenic purpura and evidence of anti-ADAMTS13 autoantibodies.

Bresin E, Gastoldi S, Daina E, Belotti D, Pogliani E, Perseghin P, Scalzulli PR, Paolini R, Marcenò R, Remuzzi G, Galbusera M.

Thromb Haemost. 2009 Feb;101(2):233-8.

PMID:
19190804
29.

Successful split liver-kidney transplant for factor H associated hemolytic uremic syndrome.

Saland JM, Shneider BL, Bromberg JS, Shi PA, Ward SC, Magid MS, Benchimol C, Seikaly MG, Emre SH, Bresin E, Remuzzi G.

Clin J Am Soc Nephrol. 2009 Jan;4(1):201-6. doi: 10.2215/CJN.02170508. Epub 2008 Nov 12.

30.

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

Castelletti F, Donadelli R, Banterla F, Hildebrandt F, Zipfel PF, Bresin E, Otto E, Skerka C, Renieri A, Todeschini M, Caprioli J, Caruso RM, Artuso R, Remuzzi G, Noris M.

Proc Natl Acad Sci U S A. 2008 Feb 19;105(7):2538-43. doi: 10.1073/pnas.0707730105. Epub 2008 Feb 11.

31.

Outcome of renal transplantation in patients with non-Shiga toxin-associated hemolytic uremic syndrome: prognostic significance of genetic background.

Bresin E, Daina E, Noris M, Castelletti F, Stefanov R, Hill P, Goodship TH, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP.

Clin J Am Soc Nephrol. 2006 Jan;1(1):88-99. Epub 2005 Nov 2. Review.

32.

In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura.

Donadelli R, Banterla F, Galbusera M, Capoferri C, Bucchioni S, Gastoldi S, Nosari S, Monteferrante G, Ruggeri ZM, Bresin E, Scheiflinger F, Rossi E, Martinez C, Coppo R, Remuzzi G, Noris M; International Registry of Recurrent and Familial HUS/TTP.

Thromb Haemost. 2006 Oct;96(4):454-64.

PMID:
17003922
33.

Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome.

Monteferrante G, Brioschi S, Caprioli J, Pianetti G, Bettinaglio P, Bresin E, Remuzzi G, Noris M.

Mol Immunol. 2007 Mar;44(7):1704-8. Epub 2006 Sep 26.

PMID:
17000000
34.

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, Mele C, Bresin E, Cassis L, Gamba S, Porrati F, Bucchioni S, Monteferrante G, Fang CJ, Liszewski MK, Kavanagh D, Atkinson JP, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP.

Blood. 2006 Aug 15;108(4):1267-79. Epub 2006 Apr 18.

35.

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Longo I, Scala E, Mari F, Caselli R, Pescucci C, Mencarelli MA, Speciale C, Giani M, Bresin E, Caringella DA, Borochowitz ZU, Siriwardena K, Winship I, Renieri A, Meloni I.

Nephrol Dial Transplant. 2006 Mar;21(3):665-71. Epub 2005 Dec 7.

PMID:
16338941
36.

Rituximab prevents recurrence of thrombotic thrombocytopenic purpura: a case report.

Galbusera M, Bresin E, Noris M, Gastoldi S, Belotti D, Capoferri C, Daina E, Perseghin P, Scheiflinger F, Fakhouri F, Grünfeld JP, Pogliani E, Remuzzi G.

Blood. 2005 Aug 1;106(3):925-8. Epub 2005 Apr 12.

37.

Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement.

Noris M, Bucchioni S, Galbusera M, Donadelli R, Bresin E, Castelletti F, Caprioli J, Brioschi S, Scheiflinger F, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP.

J Am Soc Nephrol. 2005 May;16(5):1177-83. Epub 2005 Mar 30.

38.

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.

Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A.

Kidney Int. 2004 May;65(5):1598-603.

39.

Familial haemolytic uraemic syndrome and an MCP mutation.

Noris M, Brioschi S, Caprioli J, Todeschini M, Bresin E, Porrati F, Gamba S, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP.

Lancet. 2003 Nov 8;362(9395):1542-7.

PMID:
14615110
40.

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.

Caprioli J, Castelletti F, Bucchioni S, Bettinaglio P, Bresin E, Pianetti G, Gamba S, Brioschi S, Daina E, Remuzzi G, Noris M; International Registry of Recurrent and Familial HUS/TTP.

Hum Mol Genet. 2003 Dec 15;12(24):3385-95. Epub 2003 Oct 28.

PMID:
14583443
41.

von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.

Remuzzi G, Galbusera M, Noris M, Canciani MT, Daina E, Bresin E, Contaretti S, Caprioli J, Gamba S, Ruggenenti P, Perico N, Mannucci PM; Italian Registry of Recurrent and Familial HUS/TTP. Thrombotic thrombocytopenic purpura/hemolytic uremic syndrome.

Blood. 2002 Aug 1;100(3):778-85.

42.

Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome.

Turco AE, Bresin E, Rossetti S, Peterlin B, Morandi R, Pignatti PF.

Am J Kidney Dis. 1997 Aug;30(2):174-9.

PMID:
9261027
43.

Detection of mutations in human genes by a new rapid method: cleavage fragment length polymorphism analysis (CFLPA).

Rossetti S, Englisch S, Bresin E, Pignatti PF, Turco AE.

Mol Cell Probes. 1997 Apr;11(2):155-60.

PMID:
9160331
44.

Molecular genetic investigations in autosomal dominant polycystic kidney disease. Gene Mutation detection, linkage analysis, and preliminary ACE gene I/D polymorphism association studies: an update.

Turco AE, Bresin E, Rossetti S, Englisch S, Pignatti PF, Gammaro L, Maschio G, Bendetti M, Li Vecchi M, Ferrantelli A, Cerasola G, Stiasny B, Schulze B.

Contrib Nephrol. 1997;122:53-7. No abstract available.

PMID:
9399039
45.

Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.

Turco AE, Rossetti S, Bresin E, Englisch S, Corrà S, Pignatti PF.

Hum Mutat. 1997;10(2):164-7. No abstract available.

PMID:
9259200
46.

A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1).

Bresin E, Rossetti S, Englisch S, Corrà S, Pignatti PF, Turco AE.

Mol Cell Probes. 1996 Dec;10(6):463-5.

PMID:
9025084
47.

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene.

Rossetti S, Bresin E, Restagno G, Carbonara A, Corrà S, De Prisco O, Pignatti PF, Turco AE.

Am J Med Genet. 1996 Oct 16;65(2):155-9.

PMID:
8911610
48.

Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease.

Turco AE, Rossetti S, Bresin E, Corrà S, Restagno G, Carbonara A, De Prisco O, Gammaro L, Maschio G, Pignatti PF.

Nephrol Dial Transplant. 1996;11 Suppl 6:10-2.

PMID:
9044320
49.

Erroneous genetic risk assessment of Alport syndrome.

Turco AE, Rossetti S, Bresin E, Corrá S.

Lancet. 1995 Nov 4;346(8984):1237. No abstract available.

PMID:
7475699
50.

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.

Turco AE, Rossetti S, Bresin E, Corra S, Gammaro L, Maschio G, Pignatti PF.

Hum Mol Genet. 1995 Aug;4(8):1331-5.

PMID:
7581371

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