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Research Output 1993 2019

  • 3351 Citations
  • 26 h-Index
  • 48 Article
2019

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., Mar 6 2019, In : American Journal of Kidney Diseases.

Research output: Contribution to journalArticle

Complement Membrane Attack Complex
Hemolytic-Uremic Syndrome
Complement Activation
Endothelium
Serum
2018

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

Registry of Membranoproliferative Glomerulonephritis/C3 Glomerulopathy, Jan 2018, In : Journal of the American Society of Nephrology : JASN. 29, 1, p. 283-294 12 p.

Research output: Contribution to journalArticle

Antigen-Antibody Complex
Cluster Analysis
Complement Activation
Serum
Complement C3-C5 Convertases
2017
19 Citations (Scopus)

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., Oct 13 2017, In : Journal of the American Society of Nephrology. 29, 1, p. 283-294 12 p.

Research output: Contribution to journalArticle

Cluster Analysis
Complement Activation
Serum
Complement C3-C5 Convertases
Nephrotic Syndrome
43 Citations (Scopus)

Hemolytic Uremic Syndrome in Pregnancy and Postpartum

Bruel, A., Kavanagh, D., Noris, M., Delmas, Y., Wong, E. K. S., Bresin, E., Provôt, F., Brocklebank, V., Mele, C., Remuzzi, G., Loirat, C., Frémeaux-Bacchi, V. & Fakhouri, F., Aug 7 2017, In : Clinical journal of the American Society of Nephrology : CJASN. 12, 8, p. 1237-1247 11 p.

Research output: Contribution to journalArticle

Hemolytic-Uremic Syndrome
Postpartum Period
Pregnancy
Alternative Complement Pathway
Thrombotic Microangiopathies
12 Citations (Scopus)

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., Aug 1 2017, In : Journal of Immunology. 199, 3, p. 1021-1040 20 p.

Research output: Contribution to journalArticle

Thrombotic Thrombocytopenic Purpura
von Willebrand Factor
Thrombosis
Alternative Complement Pathway
Complement Membrane Attack Complex
2016
44 Citations (Scopus)

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., Mar 1 2016, In : Molecular Immunology. 71, p. 131-142 12 p.

Research output: Contribution to journalArticle

Membranoproliferative Glomerulonephritis
Immunoglobulins
Kidney
Mutation
Genes

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., Frémeaux-Bacchi, V., Vivarelli, M., Emma, F., Daina, E. & Remuzzi, G., Mar 1 2016, In : Molecular Immunology. 71, p. 131-142 12 p.

Research output: Contribution to journalArticle

Membranoproliferative Glomerulonephritis
Immunoglobulins
Kidney
Mutation
Genes
5 Citations (Scopus)
Complement C3-C5 Convertases
Complement Factor H
Complement Factor B
Complement C3 Nephritic Factor
Alternative Pathway Complement C3 Convertase
2015
10 Citations (Scopus)
Thrombotic Thrombocytopenic Purpura
Kidney
Confidence Intervals
Odds Ratio
Metalloproteases
47 Citations (Scopus)

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., Jan 1 2015, In : Journal of the American Society of Nephrology. 26, 1, p. 209-219 11 p.

Research output: Contribution to journalArticle

Complement Factor H
Genes
Proteins
Endothelial Cells
Serum
26 Citations (Scopus)

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., 2015, In : Clinical Journal of the American Society of Nephrology. 10, 6, p. 1011-1019 9 p.

Research output: Contribution to journalArticle

Diacylglycerol Kinase
Mutation
Exome
Messenger RNA
Complementary DNA
2014
134 Citations (Scopus)

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., 2014, In : Blood. 124, 11, p. 1715-1726 12 p.

Research output: Contribution to journalArticle

Complement Membrane Attack Complex
Complement Activation
Deposits
Chemical activation
Serum
53 Citations (Scopus)

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, G. M., Piaggio, G., Brancati, F., Diano, L., Frate, E., Pinciaroli, A. R., Giani, M., Castorina, P., Bresin, E. & 6 others, Giachino, D., De Marchi, M., Mari, F., Bruttini, M., Renieri, A. & Ariani, F., 2014, In : Clinical Genetics. 86, 3, p. 252-257 6 p.

Research output: Contribution to journalArticle

Hereditary Nephritis
Pedigree
Mutation
X-Linked Genes
Mutation Rate
2013
12 Citations (Scopus)

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

Ertoy Baydar, D., Kutlugun, A. A., Bresin, E. & Piras, R., Mar 2013, In : American Journal of Kidney Diseases. 61, 3, p. 514-518 5 p.

Research output: Contribution to journalArticle

Proteinuria
Fibronectins
Mutation
Inborn Genetic Diseases
Kidney Diseases
31 Citations (Scopus)

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, F. P., Valoti, E., Pasquali, S. & Buzio, C., Sep 2013, In : Nephrology Dialysis Transplantation. 28, 9, p. 2246-2259 14 p.

Research output: Contribution to journalArticle

Haplotypes
Glomerulonephritis
Mutation
Atypical Hemolytic Uremic Syndrome
Membranoproliferative Glomerulonephritis
184 Citations (Scopus)

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

Bresin, E., Rurali, E., Caprioli, J., Sanchez-Corral, P., Fremeaux-Bacchi, V., De Cordoba, S. R., Pinto, S., Goodship, T. H. J., Alberti, M., Ribes, D., Valoti, E., Remuzzi, G. & Noris, M., Feb 28 2013, In : Journal of the American Society of Nephrology. 24, 3, p. 475-486 12 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Genes
Penetrance
Haplotypes
14 Citations (Scopus)
Thrombomodulin
Kidney Transplantation
Transplants
Recurrence
Mutation
3 Citations (Scopus)

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, W. L., Neuhaus, T. J., Nef, S., Bresin, E., Zingg-Schenk, A. & Spartà, G., Jul 2013, In : Pediatric Nephrology. 28, 7, p. 1141-1144 4 p.

Research output: Contribution to journalArticle

CD46 Antigens
Kidney Transplantation
Complement Factor I
Mutation
Transplants
27 Citations (Scopus)

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., Aug 2013, In : American Journal of Transplantation. 13, 8, p. 2201-2206 6 p.

Research output: Contribution to journalArticle

Shiga-Toxigenic Escherichia coli
Hemolytic-Uremic Syndrome
Recurrence
Mutation
Genes
2012
3 Citations (Scopus)

Congenital thrombotic thrombocytopenic purpura (cTTP) with two novel mutations

Prestidge, T. D., Rurali, E., Wadsworth, L., Wu, J. K., Moore, J. C. & Bresin, E., Dec 15 2012, In : Pediatric Blood and Cancer. 59, 7, p. 1296-1298 3 p.

Research output: Contribution to journalArticle

Thrombotic Thrombocytopenic Purpura
Mutation
Molecular Biology
Therapeutics
Quality of Life
13 Citations (Scopus)

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, F. P., Allegri, L. & Manenti, L., Oct 2012, In : Pediatric Nephrology. 27, 10, p. 1995-1999 5 p.

Research output: Contribution to journalArticle

Complement Factor H
Glomerulonephritis
Complement System Proteins
Mutation
Kidney
2011
9 Citations (Scopus)

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., Apr 2011, In : Clinical and Experimental Nephrology. 15, 2, p. 269-274 6 p.

Research output: Contribution to journalArticle

Factor XII Deficiency
Complement Factor H
Partial Thromboplastin Time
Hemolytic Anemia
Mutation
2010
476 Citations (Scopus)

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, E. M., Zipfel, P. F., Goodship, T. H. & Remuzzi, G., Oct 1 2010, In : Clinical Journal of the American Society of Nephrology. 5, 10, p. 1844-1859 16 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
CD46 Antigens
Thrombomodulin
Autoantibodies
2009
123 Citations (Scopus)

Liver-kidney transplantation to cure atypical hemolytic uremic syndrome

Saland, J. M., Ruggenenti, P., Remuzzi, G., Bekassy, Z., Bensman, A., Bresin, E., Colledan, M., Camilla, R., Coppo, R., Cruzado-Garrit, J. M., Daina, E., Fremeaux-Bacchi, V., Goodship, T. J., Gridelli, B., Hugo, C., Karpman, D., Jalanko, H., Loirat, C., Hijosa, M. M., Mc Kiernan, P. J. & 7 others, Noris, M., De Cordoba, S. R., Rota, G., Sanchez-Corral, P., Skerka, C., Tartufari, A. & Zipfel, P. F., May 2009, In : Journal of the American Society of Nephrology. 20, 5, p. 940-949 10 p.

Research output: Contribution to journalArticle

Liver Transplantation
Kidney Transplantation
Complement Factor H
Transplants
Kidney
60 Citations (Scopus)

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, P. R., Paolini, R., Marcenò, R., Remuzzi, G. & Galbusera, M., Feb 2009, In : Thrombosis and Haemostasis. 101, 2, p. 233-238 6 p.

Research output: Contribution to journalArticle

Thrombotic Thrombocytopenic Purpura
Autoantibodies
Recurrence
Therapeutics
Hemolytic Anemia
50 Citations (Scopus)

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

Saland, J. M., Shneider, B. L., Bromberg, J. S., Shi, P. A., Ward, S. C., Magid, M. S., Benchimol, C., Seikaly, M. G., Emre, S. H., Bresin, E. & Remuzzi, G., Jan 1 2009, In : Clinical Journal of the American Society of Nephrology. 4, 1, p. 201-206 6 p.

Research output: Contribution to journalArticle

Complement Factor H
Hemolytic-Uremic Syndrome
Plasma Exchange
Transplants
Kidney
2008
74 Citations (Scopus)

Mutations in FN1 cause glomerulopathy with fibronectin deposits

Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G. & Noris, M., Feb 19 2008, In : Proceedings of the National Academy of Sciences of the United States of America. 105, 7, p. 2538-2543 6 p.

Research output: Contribution to journalArticle

Fibronectins
Mutation
Pedigree
Proteinuria
Endothelial Cells
2007
30 Citations (Scopus)

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., Mar 2007, In : Molecular Immunology. 44, 7, p. 1704-1708 5 p.

Research output: Contribution to journalArticle

Complement Factor H
Hemolytic-Uremic Syndrome
Genes
Mutation
Complement Factor I
2006
36 Citations (Scopus)

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, M. A., Speciale, C., Giani, M., Bresin, E., Caringella, D. A., Borochowitz, Z. U., Siriwardena, K., Winship, I., Renieri, A. & Meloni, I., Mar 2006, In : Nephrology Dialysis Transplantation. 21, 3, p. 665-671 7 p.

Research output: Contribution to journalArticle

Hereditary Nephritis
Mutation
Genes
Consanguinity
Glomerular Basement Membrane
474 Citations (Scopus)

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, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P. & Remuzzi, G., Aug 15 2006, In : Blood. 108, 4, p. 1267-1279 13 p.

Research output: Contribution to journalArticle

CD46 Antigens
Complement Factor H
Hemolytic-Uremic Syndrome
Mutation
Plasmas
62 Citations (Scopus)

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

Donadelli, R., Banterla, F., Galbusera, M., Capoferri, C., Bucchioni, S., Gastoldi, S., Nosari, S., Monteferrante, G., Ruggeri, Z. M., Bresin, E., Scheiflinger, F., Rossi, E., Martinez, C., Coppo, R., Remuzzi, G. & Noris, M., Oct 2006, In : Thrombosis and Haemostasis. 96, 4, p. 454-464 11 p.

Research output: Contribution to journalArticle

Purpura
Mutation
Thrombotic Thrombocytopenic Purpura
Peptide Hydrolases
Drosophila
155 Citations (Scopus)
Hemolytic-Uremic Syndrome
Kidney Transplantation
Transplants
Mutation
Kidney
2005
105 Citations (Scopus)

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., 2005, In : Journal of the American Society of Nephrology. 16, 5, p. 1177-1183 7 p.

Research output: Contribution to journalArticle

Complement Factor H
Thrombotic Thrombocytopenic Purpura
Siblings
Kidney
Mutation
53 Citations (Scopus)

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, J. P., Pogliani, E. & Remuzzi, G., Aug 1 2005, In : Blood. 106, 3, p. 925-928 4 p.

Research output: Contribution to journalArticle

Thrombotic Thrombocytopenic Purpura
Plasma Exchange
Plasmas
Recurrence
Peptide Hydrolases
2004
93 Citations (Scopus)

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., May 2004, In : Kidney International. 65, 5, p. 1598-1603 6 p.

Research output: Contribution to journalArticle

Hereditary Nephritis
Mutation
Genes
Penetrance
Genetic Counseling
2003
250 Citations (Scopus)

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., Dec 15 2003, In : Human Molecular Genetics. 12, 24, p. 3385-3395 11 p.

Research output: Contribution to journalArticle

Complement Factor H
Hemolytic-Uremic Syndrome
Mutation
Genes
Diarrhea
247 Citations (Scopus)

Familial haemolytic uraemic syndrome and an MCP mutation

Noris, M., Brioschi, S., Caprioli, J., Todeschini, M., Bresin, E., Porrati, F., Gamba, S. & Remuzzi, G., Nov 8 2003, In : Lancet. 362, 9395, p. 1542-1547 6 p.

Research output: Contribution to journalArticle

CD46 Antigens
Hemolytic-Uremic Syndrome
Mutation
Complement Factor H
Complement System Proteins
2002
172 Citations (Scopus)

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, M. T., Daina, E., Bresin, E., Contaretti, S., Caprioli, J., Gamba, S., Ruggenenti, P., Perico, N. & Mannucci, P. O., Aug 1 2002, In : Blood. 100, 3, p. 778-785 8 p.

Research output: Contribution to journalArticle

Thrombotic Thrombocytopenic Purpura
Hemolytic-Uremic Syndrome
von Willebrand Factor
Peptide Hydrolases
Plasmas
1997
22 Citations (Scopus)

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

Rossetti, S., Englisch, S., Bresin, E., Pignatti, P. F. & Turco, A. E., Apr 1997, In : Molecular and Cellular Probes. 11, 2, p. 155-160 6 p.

Research output: Contribution to journalArticle

Mutation
Heteroduplex Analysis
Silver Staining
Genes
Receptor, Fibroblast Growth Factor, Type 3
7 Citations (Scopus)

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, A. E., Bresin, E., Rossetti, S., Englisch, S., Pignatti, P. F., Gammaro, L., Maschio, G., Bendetti, M., Li Vecchi, M., Ferrantelli, A., Cerasola, G., Stiasny, B. & Schulze, B., 1997, In : Contributions to Nephrology. 122, p. 53-57 5 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)

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

Turco, A. E., Bresin, E., Rossetti, S., Peterlin, B., Morandi, R. & Pignatti, P. F., Aug 1997, In : American Journal of Kidney Diseases. 30, 2, p. 174-179 6 p.

Research output: Contribution to journalArticle

Hereditary Nephritis
Genetic Linkage
Prenatal Diagnosis
DNA
Fetus
18 Citations (Scopus)

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

Turco, A. E., Rossetti, S., Bresin, E., Englisch, S., Corrà, S. & Pignatti, P. F., 1997, In : Human Mutation. 10, 2, p. 164-167 4 p.

Research output: Contribution to journalArticle

1996
6 Citations (Scopus)

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, P. F. & Turco, A. E., Dec 1996, In : Molecular and Cellular Probes. 10, 6, p. 463-465 3 p.

Research output: Contribution to journalArticle

Autosomal Dominant Polycystic Kidney
Exons
Polycystic Kidney Diseases
Genes
Gene Frequency
47 Citations (Scopus)

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, P. F. & Turco, A. E., Oct 16 1996, In : American Journal of Medical Genetics. 65, 2, p. 155-159 5 p.

Research output: Contribution to journalArticle

Autosomal Dominant Polycystic Kidney
Nonsense Codon
Exons
Genes
TRPP Cation Channels
7 Citations (Scopus)

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, A. E., Rossetti, S., Bresin, E., Corrà, S., Restagno, G., Carbonara, A., De Frisco, O., Gammaro, L., Maschio, G. & Pignatti, P. F., 1996, In : Nephrology Dialysis Transplantation. 11, SUPPL. 6, p. 10-12 3 p.

Research output: Contribution to journalArticle

Autosomal Dominant Polycystic Kidney
Nonsense Codon
Exons
DNA Sequence Analysis
Genes
1995
61 Citations (Scopus)

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, A. E., Rossetti, S., Bresin, E., Corra, S., Gammaro, L., Maschio, G. & Pignatti, P. F., Aug 1995, In : Human Molecular Genetics. 4, 8, p. 1331-1335 5 p.

Research output: Contribution to journalArticle

Autosomal Dominant Polycystic Kidney
Nonsense Codon
Kidney
Mutation
DNA
8 Citations (Scopus)

Erroneous genetic risk assessment of Alport syndrome

Turco, A., Rossetti, S., Bresin, E. & Corrá, S., Nov 4 1995, In : Lancet. 346, 8984, p. 1237 1 p.

Research output: Contribution to journalArticle

1993
12 Citations (Scopus)

A new disease-causing mutation in the GAP-related domain of the NF1 gene

Anglani, F., Murgia, A., Bedin, S., Bresin, E., Bernardi, F., Clementi, M. & Tenconi, R., Jul 1993, In : Human Molecular Genetics. 2, 7, p. 1057-1059 3 p.

Research output: Contribution to journalArticle