• 1035 Citations
  • 16 h-Index
1981 …2017
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Research Output 1981 2017

  • 1035 Citations
  • 16 h-Index
  • 40 Article
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Article
2017
39 Citations (Scopus)

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Lopez-Rivera, E., Liu, Y. P., Verbitsky, M., Anderson, B. R., Capone, V. P., Otto, E. A., Yan, Z., Mitrotti, A., Martino, J., Steers, N. J., Fasel, D. A., Vukojevic, K., Deng, R., Racedo, S. E., Liu, Q., Werth, M., Westland, R., Vivante, A., Makar, G. S., Bodria, M. & 62 others, Sampson, M. G., Gillies, C. E., Vega-Warner, V., Maiorana, M., Petrey, D. S., Honig, B., Lozanovski, V. J., Salomon, R., Heidet, L., Carpentier, W., Gaillard, D., Carrea, A., Gesualdo, L., Cusi, D., Izzi, C., Scolari, F., van Wijk, J. A. E., Arapovic, A., Saraga-Babic, M., Saraga, M., Kunac, N., Samii, A., McDonald-McGinn, D. M., Crowley, T. B., Zackai, E. H., Drozdz, D., Miklaszewska, M., Tkaczyk, M., Sikora, P., Szczepanska, M., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Darlow, J. M., Puri, P., Barton, D., Casolari, E., Furth, S. L., Warady, B. A., Gucev, Z., Hakonarson, H., Flogelova, H., Tasic, V., Latos-Bielenska, A., Materna-Kiryluk, A., Allegri, L., Wong, C. S., Drummond, I. A., D'Agati, V., Imamoto, A., Barasch, J. M., Hildebrandt, F., Kiryluk, K., Lifton, R. P., Morrow, B. E., Jeanpierre, C., Papaioannou, V. E., Ghiggeri, G. M., Gharavi, A. G., Katsanis, N. & Sanna-Cherchi, S., Feb 23 2017, In : New England Journal of Medicine. 376, 8, p. 742-754 13 p.

Research output: Contribution to journalArticle

DiGeorge Syndrome
Kidney
Zebrafish
Embryo Loss
Exome
10 Citations (Scopus)
Tissue Donors
Transplants
Kidney
Antibodies
Serum
10 Citations (Scopus)

Kidney Intragraft Homing of De Novo Donor-Specific HLA Antibodies Is an Essential Step of Antibody-Mediated Damage but Not Per Se Predictive of Graft Loss

Nocera, A., Tagliamacco, A., Cioni, M., Innocente, A., Fontana, I., Barbano, G., Carrea, A., Ramondetta, M., Sementa, A., Basso, S., Quartuccio, G., Klersy, C., Bertocchi, M., Verrina, E., Garibotto, G., Ghiggeri, G. M., Cardillo, M., Comoli, P. & Ginevri, F., Mar 1 2017, In : American Journal of Transplantation. 17, 3, p. 692-702 11 p.

Research output: Contribution to journalArticle

Tissue Donors
Transplants
Kidney
Antibodies
Serum
10 Citations (Scopus)

Kidney Intragraft Homing of De Novo Donor-Specific HLA Antibodies Is an Essential Step of Antibody-Mediated Damage but Not Per Se Predictive of Graft Loss

Nocera, A., Tagliamacco, A., Cioni, M., Innocente, A., Fontana, I., Barbano, G., Carrea, A., Ramondetta, M., Sementa, A., Basso, S., Quartuccio, G., Klersy, C., Bertocchi, M., Verrina, E., Garibotto, G., Ghiggeri, G. M., Cardillo, M., Comoli, P. & Ginevri, F., Mar 2017, In : American Journal of Transplantation. 17, 3, p. 692-702 11 p.

Research output: Contribution to journalArticle

Tissue Donors
Transplants
Kidney
Antibodies
Serum
2016

Kidney Intragraft Homing of De Novo Donor-Specific HLA Antibodies Is an Essential Step of Antibody-Mediated Damage but Not Per Se Predictive of Graft Loss

Nocera, A., Tagliamacco, A., Cioni, M., Innocente, A., Fontana, I., Barbano, G., Carrea, A. M., Ramondetta, M., Sementa, A. R., Basso, S., Quartuccio, G., Klersy, C., Bertocchi, M., Verrina, E., Garibotto, G., Ghiggeri, G. M., Cardillo, M., Comoli, P. & Ginevri, F., 2016, (Accepted/In press) In : American Journal of Transplantation.

Research output: Contribution to journalArticle

Tissue Donors
Transplants
Kidney
Antibodies
Serum
10 Citations (Scopus)

Kidney Intragraft Homing of De Novo Donor-Specific HLA Antibodies Is an Essential Step of Antibody-Mediated Damage but Not Per Se Predictive of Graft Loss

Nocera, A., Tagliamacco, A., Cioni, M., Innocente, A., Fontana, I., Barbano, G., Carrea, A., Ramondetta, M., Sementa, A., Basso, S., Quartuccio, G., Klersy, C., Bertocchi, M., Verrina, E., Garibotto, G., Ghiggeri, G. M., Cardillo, M., Comoli, P. & Ginevri, F., 2016, (Accepted/In press) In : American Journal of Transplantation.

Research output: Contribution to journalArticle

Tissue Donors
Transplants
Kidney
Antibodies
Serum
2014
38 Citations (Scopus)

Phenotypic expansion of DGKE-associated diseases

Westland, R., Bodria, M., Carrea, A., Lata, S., Scolari, F., Fremeaux-Bacchi, V., D'Agati, V. D., Lifton, R. P., Gharavi, A. G., Marco Ghiggeri, G. & Sanna-Cherchi, S., Jul 1 2014, In : Journal of the American Society of Nephrology. 25, 7, p. 1408-1414 7 p.

Research output: Contribution to journalArticle

Complement Activation
Mutation
Diacylglycerol Kinase
Thrombotic Microangiopathies
Exome
2013
71 Citations (Scopus)

Mutations in DSTYK and dominant urinary tract malformations

Sanna-Cherchi, S., Sampogna, R. V., Papeta, N., Burgess, K. E., Nees, S. N., Perry, B. J., Choi, M., Bodria, M., Liu, Y., Weng, P. L., Lozanovski, V. J., Verbitsky, M., Lugani, F., Sterken, R., Paragas, N., Caridi, G., Carrea, A., Dagnino, M., Materna-Kiryluk, A., Santamaria, G. & 28 others, Murtas, C., Ristoska-Bojkovska, N., Izzi, C., Kacak, N., Bianco, B., Giberti, S., Gigante, M., Piaggio, G., Gesualdo, L., Kosuljandic Vukic, D., Vukojevic, K., Saraga-Babic, M., Saraga, M., Gucev, Z., Allegri, L., Latos-Bielenska, A., Casu, D., State, M., Scolari, F., Ravazzolo, R., Kiryluk, K., Al-Awqati, Q., D'Agati, V. D., Drummond, I. A., Tasic, V., Lifton, R. P., Ghiggeri, G. M. & Gharavi, A. G., 2013, In : New England Journal of Medicine. 369, 7, p. 621-629 9 p.

Research output: Contribution to journalArticle

Dominant Genes
Protein-Serine-Threonine Kinases
Urinary Tract
Protein-Tyrosine Kinases
Mutation
2012
103 Citations (Scopus)

Copy-number disorders are a common cause of congenital kidney malformations

Sanna-Cherchi, S., Kiryluk, K., Burgess, K. E., Bodria, M., Sampson, M. G., Hadley, D., Nees, S. N., Verbitsky, M., Perry, B. J., Sterken, R., Lozanovski, V. J., Materna-Kiryluk, A., Barlassina, C., Kini, A., Corbani, V., Carrea, A., Somenzi, D., Murtas, C., Ristoska-Bojkovska, N., Izzi, C. & 36 others, Bianco, B., Zaniew, M., Flogelova, H., Weng, P. L., Kacak, N., Giberti, S., Gigante, M., Arapovic, A., Drnasin, K., Caridi, G., Curioni, S., Allegri, F., Ammenti, A., Ferretti, S., Goj, V., Bernardo, L., Jobanputra, V., Chung, W. K., Lifton, R. P., Sanders, S., State, M., Clark, L. N., Saraga, M., Padmanabhan, S., Dominiczak, A. F., Foroud, T., Gesualdo, L., Gucev, Z., Allegri, L., Latos-Bielenska, A., Cusi, D., Scolari, F., Tasic, V., Hakonarson, H., Ghiggeri, G. M. & Gharavi, A. G., Dec 7 2012, In : American Journal of Human Genetics. 91, 6, p. 987-997 11 p.

Research output: Contribution to journalArticle

Kidney
Population Control
Gene Dosage
Urinary Tract
Databases
2011
55 Citations (Scopus)

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

Sanna-Cherchi, S., Burgess, K. E., Nees, S. N., Caridi, G., Weng, P. L., Dagnino, M., Bodria, M., Carrea, A., Allegretta, M. A., Kim, H. R., Perry, B. J., Gigante, M., Clark, L. N., Kisselev, S., Cusi, D., Gesualdo, L., Allegri, L., Scolari, F., D'Agati, V., Shapiro, L. S. & 4 others, Pecoraro, C., Palomero, T., Ghiggeri, G. M. & Gharavi, A. G., Aug 2 2011, In : Kidney International. 80, 4, p. 389-396 8 p.

Research output: Contribution to journalArticle

Deoxyribonuclease (Pyrimidine Dimer)
Exome
Nephrotic Syndrome
Myosins
Chromosomes, Human, Pair 15
2010
22 Citations (Scopus)
Nephrotic Syndrome
Neutrophils
Respiratory Burst
Glomerulonephritis
Vasculitis
2008
11 Citations (Scopus)

Hyperinsulinemia and insulin resistance, early cardiovascular risk factors in children with chronic kidney disease

Lindblad, Y. T., Axelsson, J., Bárány, P., Celsi, G., Lindholm, B., Qureshi, A. R., Carrea, A. & Canepa, A., Dec 2008, In : Blood Purification. 26, 6, p. 518-525 8 p.

Research output: Contribution to journalArticle

Hyperinsulinism
Chronic Renal Insufficiency
Insulin Resistance
Homeostasis
Insulin
2007
3 Citations (Scopus)

Lack of cardiac anomalies in children with NPHS2 mutations [2]

Caridi, G., Dagnino, M., Carrea, A., Massella, L., Amore, A., Emma, F., Coppo, R., Perfumo, F. & Ghiggeri, G. M., May 2007, In : Nephrology Dialysis Transplantation. 22, 5, p. 1477-1479 3 p.

Research output: Contribution to journalArticle

24 Citations (Scopus)

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

Sanna-Cherchi, S., Caridi, G., Weng, P. L., Dagnino, M., Seri, M., Konka, A., Somenzi, D., Carrea, A., Izzi, C., Casu, D., Allegri, L., Schmidt-Ott, K. M., Barasch, J., Scolari, F., Ravazzolo, R., Ghiggeri, G. M. & Gharavi, A. G., Mar 2007, In : American Journal of Human Genetics. 80, 3, p. 539-549 11 p.

Research output: Contribution to journalArticle

Chromosomes
Kidney
Urinary Tract
Genes
Inborn Genetic Diseases
2006
37 Citations (Scopus)

Phenotypic and genetic heterogeneity in Dent's disease - The results of an Italian collaborative study

Tosetto, E., Ghiggeri, G. M., Emma, F., Barbano, G., Carrea, A., Vezzoli, G., Torregrossa, R., Cara, M., Ripanti, G., Ammenti, A., Peruzzi, L., Murer, L., Ratsch, I. M., Citron, L., Gambaro, G., D'Angelo, A. & Anglani, F., Sep 2006, In : Nephrology Dialysis Transplantation. 21, 9, p. 2452-2463 12 p.

Research output: Contribution to journalArticle

Dent Disease
Genetic Heterogeneity
Mutation
Nephrocalcinosis
Hypercalciuria
2005
7 Citations (Scopus)
Quantitative Trait Loci
Peptidyl-Dipeptidase A
Haplotypes
Cyclosporine
Phenotype
2004
44 Citations (Scopus)

Cyclosporine in patients with steroid-resistant nephrotic syndrome: An open-label, nonrandomized, retrospective study

Ghiggeri, G. M., Catarsi, P., Scolari, F., Caridi, G., Bertelli, R., Carrea, A., Sanna-Cherchi, S., Emma, F., Allegri, L., Cancarini, G., Rizzoni, G. F. & Perfumo, F., Sep 2004, In : Clinical Therapeutics. 26, 9, p. 1411-1418 8 p.

Research output: Contribution to journalArticle

Nephrotic Syndrome
Cyclosporine
Retrospective Studies
Steroids
Kidney
2003
15 Citations (Scopus)

Apolipoprotein e in idiopathic nephrotic syndrome and focal segmental glomerulosclerosis

Bruschi, M., Catarsi, P., Candiano, G., Rastaldi, M. P., Musante, L., Scolari, F., Artero, M., Carraro, M., Carrea, A., Caridi, G., Zennaro, C., Sanna-Cherchi, S., Viola, F. B., Ferrario, F., Perfumo, F. & Ghiggeri, G. M., 2003, In : Kidney International. 63, 2, p. 686-695 10 p.

Research output: Contribution to journalArticle

Focal Segmental Glomerulosclerosis
Apolipoproteins
Apolipoproteins E
Nephrotic Syndrome
Genotype
150 Citations (Scopus)

Broadening the spectrum of diseases related to podocin mutations

Caridi, G., Bertelli, R., Di Duca, M., Dagnino, M., Emma, F., Muda, A. O., Scolari, F., Miglietti, N., Mazzucco, G., Murer, L., Carrea, A., Massella, L., Rizzoni, G., Perfumo, F. & Ghiggeri, G. M., May 1 2003, In : Journal of the American Society of Nephrology. 14, 5, p. 1278-1286 9 p.

Research output: Contribution to journalArticle

Mutation
Steroids
Nephrotic Syndrome
Proteinuria
Cyclosporine
10 Citations (Scopus)

Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure

Canepa, A., Carrea, A., Caridi, G., Dertenois, L., Minniti, G., Cerone, R., Canini, S., Calevo, M. G. & Perfumo, F., Mar 1 2003, In : Pediatric Nephrology. 18, 3, p. 225-229 5 p.

Research output: Contribution to journalArticle

Methylenetetrahydrofolate Reductase (NADPH2)
Homocysteine
Vitamin B 12
Folic Acid
Chronic Kidney Failure
2002
29 Citations (Scopus)

Free amino acids in plasma, red blood cells, polymorphonuclear leukocytes, and muscle in normal and uraemic children

Canepa, A., Divino Filho, J. C., Gutierrez, A., Carrea, A., Forsberg, A. M., Nilsson, E., Verrina, E., Perfumo, F. & Bergström, J., 2002, In : Nephrology Dialysis Transplantation. 17, 3, p. 413-421 9 p.

Research output: Contribution to journalArticle

Neutrophils
Erythrocytes
Amino Acids
Muscles
Granulocytes
2001
20 Citations (Scopus)

Acute effects of simultaneous intraperitoneal infusion of glucose and amino acids

Canepa, A., Carrea, A., Menoni, S., Verrina, E., Trivelli, A., Gusmano, R. & Perfumo, F., 2001, In : Kidney International. 59, 5, p. 1967-1973 7 p.

Research output: Contribution to journalArticle

Parenteral Infusions
Peritoneal Dialysis
Amino Acids
Glucose
Blood Urea Nitrogen

Diagnosi, prevenzione e terapia delle malattie renali a evoluzione uremigena: Dai meccanismi molecolari al trattamento sostitutivo

Translated title of the contribution: Diagnosis, prevention and treatment of evolving renal diseases: From molecular mechanisms to replacement therapyGhiggeri, G., Verrina, E., Canepa, A., Ginevri, F., Barbano, G., Bertelli, R., Carrea, A., Di Donato, A., Di Duca, M., Oleggini, R., Musante, L., Giampuzzi, M. & Perfumo, F., 2001, In : Gaslini. 33, 3, p. 304-309 6 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Juvenile nephronophthisis and related variants: Clinical features and molecular approach

Caridi, G., Dagnino, M., Miglietti, N., Carrea, A., Perfumo, F., Gusmano, R. & Ghiggeri, G. M., 2001, In : Contributions to Nephrology. 136, p. 57-67 11 p.

Research output: Contribution to journalArticle

Nefronoftisi giovanile: Aspetti clinici ed approccio molecolare

Translated title of the contribution: Juvenile nephronophthisis: Clinical aspects and molecular approachCaridi, G., Dagnino, M., Carrea, A., Ciardi, M. R., Degl'Innocenti, M. L., Piaggio, G., Gusmano, R., Ghiggeri, G. M. & Perfumo, F., 2001, In : Gaslini. 33, 1, p. 99-104 6 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Familial juvenile Nephronophthisis
153 Citations (Scopus)

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis

Caridi, G., Bertelli, R., Carrea, A., Di Duca, M., Catarsi, P., Artero, M., Carraro, M., Zennaro, C., Candiano, G., Musante, L., Seri, M., Ginevri, F., Perfumo, F. & Ghiggeri, G. M., 2001, In : Journal of the American Society of Nephrology. 12, 12, p. 2742-2746 5 p.

Research output: Contribution to journalArticle

Focal Segmental Glomerulosclerosis
Nephrotic Syndrome
Steroids
Mutation
Proteinuria
2000
12 Citations (Scopus)

Characterization of a DNA binding site that mediates the stimulatory effect of cyclosporin-A on type III collagen expression in renal cells

Oleggini, R., Musante, L., Menoni, S., Botti, G., Di Duca, M., Prudenziati, M., Carrea, A., Ravazzolo, R. & Ghiggeri, G. M., 2000, In : Nephrology Dialysis Transplantation. 15, 6, p. 778-785 8 p.

Research output: Contribution to journalArticle

Collagen Type III
Cyclosporine
Binding Sites
Kidney
DNA
1999
18 Citations (Scopus)

Value of intraperitoneal amino acids in children treated with chronic peritoneal dialysis

Canepa, A., Verrina, E., Perfumo, F., Carrea, A., Menoni, S., Delucchi, P. & Gusmano, R., 1999, In : Peritoneal Dialysis International. 19, SUPPL. 2

Research output: Contribution to journalArticle

1996
11 Citations (Scopus)

Children on continuous ambulatorial peritoneal dialysis: Muscle and plasma proteins, amino acids and nutritional status

Canepa, A., Divino Filho, J. C., Forsberg, A. M., Perfumo, F., Carrea, A., Verrina, E., Podestá, E., Gusmano, R. & Bergström, J., 1996, In : Clinical Nephrology. 46, 2, p. 125-131 7 p.

Research output: Contribution to journalArticle

Muscle Proteins
Peritoneal Dialysis
Nutritional Status
Blood Proteins
Essential Amino Acids
16 Citations (Scopus)

Nutritional status in children receiving chronic peritoneal dialysis

Canepa, A., Perfumo, F., Carrea, A., Menoni, S., Trivelli, A., Delucchi, P. & Gusmano, R., 1996, In : Peritoneal Dialysis International. 16, SUPPL. 1

Research output: Contribution to journalArticle

Peritoneal Dialysis
Nutritional Status
Amino Acids
Dialysis Solutions
Muscles
10 Citations (Scopus)

Protein and calorie intake, nitrogen losses, and nitrogen balance in children undergoing chronic peritoneal dialysis.

Canepa, A., Perfumo, F., Carrea, A., Menoni, S., Verrina, E., Trivelli, A., Delucchi, P. & Gusmano, R., 1996, In : Advances in peritoneal dialysis. Conference on Peritoneal Dialysis. 12, p. 326-329 4 p.

Research output: Contribution to journalArticle

Peritoneal Dialysis
Nitrogen
Proteins
Recommended Dietary Allowances
Dialysis Solutions
1994
14 Citations (Scopus)

Muscle and plasma amino acids and nutritional status in kidney-transplanted children

Perfumo, F., Canepa, A., Divino Filho, J. C., Nilsson, E., Carrea, A., Verrina, E., Gusmano, R. & Bergstrom, J., 1994, In : Nephrology Dialysis Transplantation. 9, 12, p. 1778-1785 8 p.

Research output: Contribution to journalArticle

Nutritional Status
Kidney
Amino Acids
Muscles
Glycine
1993

Nutritional status and muscle amino acids in children with end-stage renal failure

Canepa, A., Divino Filho, J. C., Forsberg, A. M., Perfumo, F., Carrea, A., Gusmano, R. & Bergström, J., Apr 1993, In : Pediatric Nephrology. 7, 2, p. 211 1 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Proteolytic activity and free amino acid concentrations in polymorphonuclear leucocytes

Carrea, A., Canepa, A., Perfumo, F., Ancarani, P., Verrina, E. & Gusmano, R., 1993, In : Annals of Clinical Biochemistry. 30, 6, p. 559-564 6 p.

Research output: Contribution to journalArticle

Neutrophils
Granulocytes
Amino Acids
Peptide Hydrolases
Proteolysis
1992
5 Citations (Scopus)
Nephrosis
Dietary Proteins
Xanthine Oxidase
Proteinuria
Doxorubicin
21 Citations (Scopus)

Nutritional status and muscle amino acids in children with end-stage renal failure

Canepa, A., Filho, J. C. D., Forsberg, A. M., Perfumo, F., Carrea, A., Gusmano, R. & Bergstrom, J., 1992, In : Kidney International. 41, 4, p. 1016-1022 7 p.

Research output: Contribution to journalArticle

Nutritional Status
Chronic Kidney Failure
Amino Acids
Muscles
Valine
1991
29 Citations (Scopus)

Long-term effect of amino-acid dialysis solution in children on continuous ambulatory peritoneal dialysis

Canepa, A., Perfumo, F., Carrea, A., Giallongo, F., Verrina, E., Cantaluppi, A. & Gusmano, R., Mar 1991, In : Pediatric Nephrology. 5, 2, p. 215-219 5 p.

Research output: Contribution to journalArticle

Continuous Ambulatory Peritoneal Dialysis
Dialysis Solutions
Amino Acids
Blood Urea Nitrogen
Transferrin
1990
10 Citations (Scopus)

Continuous ambulatory peritoneal dialysis (CAPD) of children with amino acid solutions: Technical and metabolic aspects

Canepa, A., Perfumo, F., Carrea, A., Piccardo, M. T., Ciardi, M. R., Cantaluppi, A. & Gusmano, R., 1990, In : Peritoneal Dialysis International. 10, 3, p. 215-220 6 p.

Research output: Contribution to journalArticle

Continuous Ambulatory Peritoneal Dialysis
Amino Acids
Dialysis
Dialysis Solutions
Isoleucine
1989
12 Citations (Scopus)

Measurement of free amino acids in polymorphonuclear leukocytes by high-performance liquid chromatography

Canepa, A., Perfumo, F., Carrea, A., Sanguineti, A., Piccardo, M. T. & Gusmano, R., 1989, In : Journal of Chromatography B: Biomedical Sciences and Applications. 491, C, p. 200-208 9 p.

Research output: Contribution to journalArticle

1981

COMPORTAMENTO DELLA PROTEINA LEGANTE LA VITAMINA D NELLA SINDROME NEFROSICA INFANTILE

Translated title of the contribution: Vitamin D binding protein in childhood nephrotic syndromeOleggini, R., Perfumo, F., Carrea, A. & Gusmano, R., 1981, In : Rivista Italiana di Pediatria. 7, 6, p. 727-732 6 p.

Research output: Contribution to journalArticle

Vitamin D-Binding Protein
Nephrotic Syndrome
Blood Proteins
Proteins
Vitamins