1

Professor ANTONIO AMOROSO, M.D. March 15, 2012

CURRENT APPOINTMENTS Full Professor 1999 - present Medical Genetics School of Medicine, University of Turin, Italy Director 2005 - present Transplant Immunology Service San Giovanni Hospital of Turin, Italy

Director 2005 - present The Regional Transplantation Centre Turin, Italy Coordinator 2005 - 2011 PhD Program in Human Genetics University of Turin, Italy Director 2010 - present Department of Molecular Diagnostics San Giovanni Hospital of Turin, Italy

CONTACT INFORMATION Centro Regionale di Riferimento per i trapianti S.C.D.U. Immunologia dei Trapianti Azienda Ospedaliera San Giovanni Battista - Via Santena, 19 10126 Torino, Italy Phone +39 011.6336760/512 - Fax +39 011.6336529 e-mail: antonio.amoroso@unito.it

URL: http://www.dgbb.unito.it, http://www.piemonte.airt.it/

EDUCATION AND TRAINING M.D. 1979 School of Medicine, University of Turin, Italy

2

Licensed for medical practice in Italy in 1979 Resident in Immunohematology 1981 - 1983 University of Ferrara, Italy

PROFESSIONAL EXPERIENCE Internship 1979 - 1980 Institute of Medical Genetics, University of Turin. Medical Assistant 1980 - 1988 Transplant Immunology Service, Institute of Medical Genetics San Giovanni Hospital, Torino. Associate Director 1988 - 1992 Transplant Immunology Service, Institute of Medical Genetics San Giovanni Hospital, Torino. Associate Professor in Genetics 1992 School of Medicine, University of Torino Associate Professor in Medical Genetics 1996 School of Medicine, University of Torino Director 1996 - 2004 Medical Genetic Service, Children Hospital “Burlo Garofolo”, Trieste Full Professor in Medical Genetics 1999 School of Medicine, University of Trieste Director 2000 - 2004 Department of Reproductive and Developmental Sciences University of Trieste Director 2000 - 2004 Residency Program in Medical Genetics, University of Trieste Coordinator 2004 - 2005 Molecular Medicine Center University of Trieste

3

President 2007 - 2009 Inter-Regional Transplant Society (AIRT)

RESEARCH ACTIVITIES PROFESSIONAL EXPERIENCE - Medical genetics; - Molecular genetics; - Histocompatibility in medicine; - Tissue and organ transplantation; - HLA-associated diseases; SCIENTIFIC ACTIVITY - Immunogenetics - Molecular genetics - Clinical genetics - Genetics of the immune response - Genetics susceptibility to complex diseases - Immunological factors relevant in transplantation.

RECENT PEER-REVIEWED ORIGINAL RESEARCH ARTICLES (SINCE 1996)

Article IF year Citation

1. Dini G, Lanino E, Lamparelli T, Barbanti M, Sacchi N, Carcassi C, Locatelli F, Porta F, Rosti G, Alessandrino EP, Aversa F, Marenco P, Guidi S, Uderzo C, Amoroso A, DiBartolomeo P, Garbarino L, La Nasa G, Rossetti F, Miniero R, Soligo D, Manfredini L, Bacigalupo A for the Gruppo Italiano per il Trapianto di Midollo Osseo (GITMO): Unrelated donor marrow transplantation: initial experience of the Italian Bone Marrow Transplant Group (GITMO). Bone Marrow Transplantation 17: 55-62, 1996.

2,234 1996

2. Gabrielli A., Zhu-Xu-Zhang, Cherubini G., Candela M., Savoldi S., Manzin A., Clementi M., Amoroso A., Sällberg M.: Differential humoral immune response against hepatitis C virus antigenic synthetic peptides in infected patients with and without mixed cryoglobulinemia. Clinical and Experimental Immunology, 105: 59-64, 1996

2,546 1996 9

3. Vitale M., Sivori S., Pende D., Augugliaro R., Di Donato C., Amoroso A., Malnati M., Bottino C., Moretta L., Moretta A.: Physical and functional independency of p70 and p58 (NK) cell receptors for HLA-class I: Their role in the definition of different groups of alloreactive NK cell clones. Proceedings of the National Academy of Sciences USA 93: 1453-1457, 1996

10,325 1996 49

4. Amoroso A, Berrino M, Canale L, Coppo R, Cornaglia M, Guarrera S, Mazzola G: Immunogenetics of Henoch-Schoenlein Disease. European Journal of Immunogenetics 24: 323-333, 1997

1,952 1997 39

5. Busca A., Amoroso A., Miniero R.: Bone marrow transplantation from unrelated volunteer donors. An overview. Panminerva Med 1997 Jun;39(2):71-7

0,067 1997

6. Nisini R, Paroli M, Accappezzato D, Bonino F, Rosina F, Santantonio T, Sallustro F, Amoroso A, Houghton M, Barnaba V: Human CD4+ T-cell response to hepatitis delta virus:

6,254 1997 59

4

identification of multiple epitopes and characterization of T-helper cytokine profiles. Journal of Virology 71: 2241-2251, 1997

7. Amoroso A, Berrino M, Canale L, Cornaglia M, Guarrera S, Mazzola G, Savoldi S, Scolari F, Sällberg M, Clementi M, Gabrielli A: Are HLA class II and Immunoglobulin constant region genes involved in the pathogenesis of mixed cryoglobulinemia type II after hepatitis C virus infection? Journal of Hepatology, 1998; 29(1): 36-44

3,154 1998 20

8. Amoroso A, Danek G, Vatta S, Berrino M, , Fasano ME, Mazzola G, Amore A, Gianoglio B, Peruzzi L, Coppo R: Polymorphisms in angiotensin-converting enzyme gene and severity of renal disease in Henoch-Schoenlein patients. Nephrology, Dialysis and Transplantation, 1998 Dec;13(12): 3184-8.

1,638 1998 28

9. Ferrettini C, Pirulli D, Cosseddu D, Marangella M, Petrarulo M, Mazzola G, Vatta S, Amoroso A: Molecular analysis of the AGXT gene in the Italian patients with primary hyperoxaluria type 1 (PH1). Journal of Nephrology, 11S: 18-22, 1998

0,49 1998 3

10. Scolari F, Amoroso A, Savoldi S, Borelli I, Valzorio B, Costantino E, Bracchi M, Usberti M, Prati E, Maiorca R: Familial membranous nephropathy. Journal of Nephrology 11: 35-39, 1998

0,49 1998

11. Scolari F, Ghiggeri GM, Casari G, Amoroso A, Puzzer D, Caridi GL, Valzorio B, Tardanico R, Vizzardi V, Savoldi S, Viola BF, Bossini N, Prati E, Gusmano R, Maiorca R: Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus. Nephrol Dial Transplant 1998 Oct;13(10):2536-46

1,638 1998 23

12. Vatta S, Cigui I, Demori E, Morgutti M, Pecile V, Gambel Benussi D, Serra C, Amoroso A: Fragile X syndrome, mental retardation and macroorchidism. Clinical Genetics, 1998, 54: 366-367

1,113 1998

13. Amoroso A, Boniotto M, Crovella S, Serra C, Vatta S, Scarlatti G, Palomba E, Berrino M, Tovo PA: Polymorphism at codon 54 of Mannose binding protein gene influences AIDS progression but not HIV infection in exposed children. AIDS 13: 863-864, 1999

6,931 1999 32

14. Amoroso A, Pirulli D, Puzzer D, Ferri L, Crovella S, Ferrettini C, Marangella M, Mazzola G, Florian F.Gene symbol: AGXT. Disease: primary hyperoxaluria type I.Hum Genet. 1999 May;104(5):441.

3,501 1999 1

15. Clerico L., Mancuso T., Da Prato L., Marziliano N., Garagna S.,Pecile V., Demori E., Parodi S., Amoroso A., Crovella S.: In situ RT PCR allows the detection of ornitine decarboxilase mRNA in archival paraffin embedded human breast cancer tissues. European Journal of Histochemistry, 1999;43(3):179-83.

0,505 1999

16. Marziliano N., Mancuso T., Comar M., Cernigoi E., Da Prato L., Garagna S., Boniotto M., Pirulli D., Puzzer D., Morgutti M., Amoroso A., Crovella S.: Fluorescent in situ PCR allows sensitive three hours detection of Human Papilloma Virus in cells and tissues. European Journal of Histochemistry, 1999;43(2):155-7.

0,505 1999

17. Pirulli D, Puzzer D, Ferri L, Crovella S, Amoroso A, Ferrettini C, Petrarulo M, Marangella M, Florian F: Molecular analysis of Hyperoxaluria type 1 Italian patients reveals eight new mutations in the alanine:glyoxylate aminotransferase gene. Human Genetics, Jun;104(6):523-5, 1999

2,758 1999 29

18. Scolari F, Amoroso A, Savoldi S, Mazzola G, Prati E, Valzorio B, Viola BF, Bossini N, Movilli E, Sandrini M, Campanini M, Maiorca R: Familial clustering of IgA nephropathy: further evidence in an Italian population. American Journal of Kidney Diseases 33: 1-10, 1999

3,501 1999 57

19. Scolari F., Puzzer D., Amoroso A., Caridi G., Ghiggeri GM., Maiorca R., Aridon P., De Fusco M., Ballabio A., Casari G.: Identification of a New Locus for Medullary Cystic Disease on Chromosome 16. American Journal of Human Genetics 64: 1655-1660, 1999

8,598 1999 71

20. Crovella S, Del Pero M, Marziliano N, Garagna S, Pecile V, Morgutti M, Boniotto M, Bigatti MP, Lamberti L, Amoroso A, Ardito G: MFASAT a new alphoid DNA sequence isolated from Macaca Fascicularis (Cercopithecidae, Primates). Genome, 1999 Dec;42(6):1066-70

1,623 1999 2

21. Marzigliano N., Crovella S., Audero E., Pecile V., Bussolino F., Amoroso A., Garagna S.: Genetic mapping of the mouse homologue of the human angiopoietin-1 gene (Agpt) to mouse chromosome 9E2 by in situ hybridization. Cytogenetics and Cell Genetics, 1999;87(3-4):199-200.

2,53 1999

22. Pirulli D, Giordano M, Puzzer D, Crovella S, Rigato I, Tiribelli C, Momigliano-Richiardi P, 3,703 2000 29

5

Amoroso A: Rapid method for detection of extra (TA) in the promoter of bilirubin-UDP-glucuronosyl transferase 1 gene associated with Gilbert Syndrome. Clinical Chemistry, 2000 46: 129-131

23. Clerico M, Mancuso T, Crovella S, Amoroso A, Morgutti M, Demori E, Parodi S: Detection of ornithine decarboxylase mRNA in human breast cancer MCF-7 cells by in situ RT-PCR. International Journal of Oncology, 2000 Feb;16(2):241-4.

1,200 2000

24. Romiti ML, Colognesi C, Cancrini C, Mas A, Berrino M, Salvatori F, Orlandi P, Jansson M, Palomba E, Bertran JM, Hernandez M, de Martino M, Amoroso A, Tovo PA, Rossi1 P, Espanol T, Scarlatti G: Prognostic value of a CCR5 defective allele in paediatric HIV-1 infection. Molecular Medicine, 2000 Jan;6(1):28-36.

4,869 2000 23

25. Boniotto M, Crovella S, Pirulli D, Scarlatti G, Spanò A, Vatta L, Zezlina S, Tovo PA, Palomba E, Amoroso A: Polymorphisms in the MBL2 promoter correlated with risk of HIV-1 vertical transmission and AIDS progression. Gene and Immunity 1(5), 346-348, 2000

3,222 2000 45

26. Vatta S, Boniotto M, Bevilacqua E, Belgrano A, Pirulli D, Crovella S, Amoroso A: Human beta defensin 1 gene: six new variants. Human Mutation 2000 Jun;15(6):582-3

2,548 2000

27. Pirulli D, Zezlina S, Vatta L, Di Stefano P, Boniotto M, Tarone G, Mongini T, Ugo I, Palmucci L, Amoroso A, Crovella S. A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene. Hum Mutat (Online). 2000 Aug;16(2):180

2,548 2000

28. Pascolo L, Fernetti C, Pirulli D, Bogoni S, Garcia-Mediavilla V, Spanò D, Puzzer D, Tiribelli C, Amoroso A, Crovella S: Detection of MRP1 mRNA in human tumors and tumor cell lines by in situ RT-PCR. Biochem Biophys Res Commun. 2000 Aug 28;275(2):466-71

2,78 2000 7

29. Marziliano N, Bevilacqua E, Pirulli D, Spanò A, Amoroso A, Crovella S. A single tube melting temperature assay for rapid and sensitive detection of c282y and h63d most frequent hemocromatosis mutations. Haematologica, 85: 985-986, 2000

1,876 2000 4

30. Gharavi AG, Yan Y, Scolari F, Schena FP, Frasca GM, Giggheri GM, Cooper K, Amoroso A, Viola BF, Battini G, Caridi G, Canova C, Farhi A, Subramanian V, Nelson-Williams C, Woodford S, Julian B, Wyatt R, Lifton RP: IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23. Nature Gen., 26,354-357, 2000

30,910 2000 184

31. Pirulli D, Boniotto M, Puzzer D, Spanò A, Amoroso A, Crovella S: Flexibility of melting temperature assay for rapid detection of insertions, deletions and single point mutations of the agxt gene responsible for type 1 primary hyperoxaluria. Clin Chem. 2000 Nov;46(11):1842-4.

3,423 2000 16

32. Vatta S, Bevilacqua E, Belgrano A, Morgutti M, Amoroso A: La sindrome da X fragile: recenti acquisizioni e prospettive future. Medico e Bambino 8: 522-525, 2000

2000

33. Scolari F., Viola B.F., Ghiggeri G.M., Caridi G., Amoroso A., Puzzer D., G. Casari, Maiorca R.: Identificazione di un nuovo locus per la malattia cistica della midollare sul cromosoma 16. Giornale Italiano di Nefrologia / Anno 17 n. 1, 2000/pp. 21-26

2000

34. Comar M, Spanò A, Canova S, Bogoni S, Marzigliano N, Cernigoi E, Amoroso A, Parodi S, Campello C, Crovella S: Direct in situ PCR allows rapide and sensitive detection of high risk human papilloma virus (HPV) in cytologic specimens and formalin fixed paraffin tissues by fluorescent labelling. International Journal of Oncology 2001 Jan;18(1):181-185

1,200 2001

35. Persico M, Persico E, Bakker CTN, Rigato I, Amoroso A, Torella R, Bosma PJ, Tiribelli C, Ostrow JD: Hepatic Uptake of Organic Anions Determines Phenotypic Expression in Subjects with Gilbert's Syndrome Mutations in UGT1A1. Hepatology, 2001;33:627-632

8,096 2001 27

36. Pirulli D, Boniotto M, Vatta L, Crovella S, Spanò A, Puzzer D, Zezlina S, Bertola L, Roccatello D, Scolari F, Peruzzi L, Savoldi S, Amoroso A: Polymorphisms of the promoter and of the codon 54 in the MBL2 gene are not associated with IgA nephropathy. Nephrology, Dyalisis and Transplantation, 2001 Apr;16(4):759-764.

2,432 2001 9

37. Pascolo L, Bogoni S, Spanò A, Demori E, Amoroso A, Crovella S: Fluorescent rt in situ pcr detection of mrp1 mrna in human hcv infected liver. European Journal of Histochemistry, 45: 105-108, 2001

0,453 2001

38. Amoroso A, Mazzola G, Berrino M, Bertola L, Nonnato A, Cravero T, Crovella S, Curtoni S: Immunogenetica della nefropatia crioglobulinemica dopo infezione da hcv. Giornale Italiano di Nefrologia, S-19: 38-44, 2001

2001

39. Miertus J, Amoroso A: Progressi e delusioni in genetica. Medico e Bambino 3 suppl: 31-34, 2001

6

2001

40. Amoroso, A. Autosomal dominant medullary cystic kidney disease (ADMCKD). Orphanet encyclopedia, June 2001: http://orphanet.infobiogen.fr/data/patho/uk-MCKD.html

2001

41. Pozzato G, Zorat F, Nascimben F, Gregorutti M, Comar C, Baracetti S, Vatta S, Elena Bevilacqua E, Belgrano A, Crovella S, Amoroso A: Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry. Eur J Hum Genet. 2001 Jun;9(6):445-51.

3,173 2001 19

42. Braida L, Crovella S, Boniotto M, Luchesi A, deVonderweid U, Casetta B, Amoroso A. A rapid and quantitative mass spectrometry method for determining concentration of acycarnitines and aminoacids in amniotic fluid. Prenat Diagn 2001 Jul;21(7):543-6

1,885 2001 7

43. Pirulli D, Puzzer D, De Fusco M, Crovella S, Amoroso A, Scolari F, Viola BF, Maiorca R, Caridi G, Savoldi S, Ghiggeri GM, Casari G: Molecular analysis of uromodulin and sah genes, positional candidates for ADMCKD2, Journal of Nephrology, 14(5):392-6, 2001

0,49 2001 7

44. Amoroso A, Pirulli D, Florian F, Puzzer D, Boniotto M, Crovella S, Zezlina S, Spanò A, Mazzola G, Savoldi S, Ferrettini C, Petrarulo M, Agnelotti C, Marangella M: agxt gene mutations and their influence on clinical heterogeneity of type 1 Primary hyperoxaluria. J Am Soc Nephrol 12: 2072-2079, 2001

6,337 2001 37

45. Pirulli D, Giordano G, Lessi M, Spanò A, Puzzer D, Zezlina S, Boniotto M, Crovella S, Florian F, Marangella M, Momigliano Richiardi P, Savoldi S, Amoroso A: Detection of AGXT gene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxaluria type 1. Clin Exp Med. 2001 Jun;1(2):99-104.

1,519 2001 3

46. Masè G, Ros S, Gemma A, Bonfigli L, Carraro N, Cazzato G, Rolfo M, Zanconati F, Sepcic J, Jurjevic A, Pirulli D, Boniotto M, Zezlina S, Crovella S, Amoroso A: als with variable phenotypes in a 6 generation family caused by leu144phe mutation in the sod1 gene. Journal of Neurological Sciences, 191(1-2):11-8, 2001

1,986 2001 28

47. Miertus J, Amoroso A: Microarrays for an early detection of cardiac malformations. Italian Heart Journal, 2001 Aug;2(8):565-7

2001 2

48. Scolari F, Viola BF, Prati E, Ghiggeri GM, Caridi G, Amoroso A, Casari G, Maiorca R. Medullary cystic kidney disease: past and present. Contrib Nephrol 2001;(136):68-78

0,573 2001 7

49. Marangella M, Petrarulo M, Vitale C, Bagnis C, Berutti S, Ramello A, Amoroso A. The primary hyperoxalurias. Contrib Nephrol 2001;(136):11-32

0,573 2001 10

50. Morgutti M, Demori E, Pecile V, Amoroso A, Rustighi A, Manfioletti G: Genomic organization and chromosome mapping of the human homeobox gene HHEX. Cytogenet Cell Genet, 2001; 94 (1-2): 30-2

1,604 2001

51. Scolari F, Amoroso A, Caridi G, Casari G, Ghiggeri G.M: La malattia cistica della midollare fra passato e presente. Giornale Italiano di Nefrologia / Anno 18 n. 5, 2001/pp. 593-603

2001

52. Pecile V, Demori E, Gambel Benussi D, Dolce S, Amoroso A: Diagnosis of triploidy in metaphases from uncultured amniocytes. Prenatal Diagnosis, 2002 Jan;22(1):78-9

1,885 2002

53. Tresoldi E, Romiti ML, Boniotto M, Crovella S, Salvatori F, Pastore A, Palomba E, de Martino M, Plebani A, Castelli G, Tovo PA, Rossi P, Amoroso A, Scarlatti G: Prognostic value of SDF1-3'A mutation in pediatric HIV-1 infection. J Infect Dis 2002 Mar 1;185(5):696-700

4,857 2002 18

54. DelPero M, Boniotto M, Zuccon D, Cervella P, Spanò A, Amoroso A, Crovella S: -defensin 1 gene variability among non-human Primates. Immunogenetics, 2002 Feb;53(10):907-913

2,475 2002 31

55. Trevisiol C, Baldas V, Tommasini A, Santon D, Martelossi S, Torre G, Berti I, Spanò A, Crovella S, Amoroso A, Sblattero D, Marzari R, Bradbury A, Ventura A, Not T: A reliable screening procedure for coeliac disease in clinical practice. Sc J Gastroent, 2002;37:679-84

2,336 2002 40

56. Crovella S, Pirulli D, De Santo D, De Seta F, Boniotto, Braida L, Boaretto F, Guaschino S, Amoroso A: Quantitative in situ detection of high-risk human papillomavirus in cytological specimens by SYBR Green 1 fluorescent labelling. Clin Exp Med 2: 1-6, 2002

1,519 2002 4

57. Circo R, Skerlavaj B, Gennaro R, Amoroso A, Zanetti M. Structural and functional characterization of hBD-1(Ser35), a peptide deduced from a DEFB1 polymorphism. Biochem Biophys Res Commun. 2002 Apr 26;293(1):586-92.

2,935 2002 18

58. Hladnik U, Braida L, Boniotto M, Pirulli D, Gerin F, Amoroso A, Crovella S. Single-tube genotyping of MBL-2 polymorphisms using melting temperature analysis. Clin Exp Med.

1,519 2002 28

7

2002 Jul;2(2):105-8.

59. Boniotto M, Braida L, Spanò A, Pirulli D, Baldas V, Trevisiol C, Not T, Tommasini A, Amoroso A, Crovella S. Variant mannose-binding lectin alleles are associated with Coeliac disease. Immunogenetics, 2002 Nov;54(8):596-8

2,475 2002 17

60. Candore G, Mantovani V, Balistreri CR, Lio D, Colonna-Romano G, Cerreta V, Carru C, Deiana L, Pes G, Menardi G, Perotti L, Miotti V, Bevilacqua E, Amoroso A, Caruso C: Frequency of the HFE gene mutations in five Italian populations. Blood Cells Mol Dis. 2002 Nov-Dec;29(3):267-73.

1,772 2002 28

61. Boniotto M, Braida L, Pirulli D, Arraes L, Amoroso A, Crovella S. MBL2 polymorphisms are involved in HIV-1 infection in Brazilian perinatally-infected children. AIDS. 2003 Mar 28;17(5):779-780.

5,521 2003 22

62. Pascolo L, Fernetti C, Pirulli D, Crovella S, Amoroso A, Tiribelli C. Effects of maturation on RNA transcription and protein expression of four MRP genes in human placenta and in BeWo cells. Biochem Biophys Res Commun. 2003 Mar 28;303(1):259-65.

3,161 2003 54

63. Boniotto M, Braida L, Ventura L, Greco L, Amoroso A, Crovella S: Promoter polymorphisms of the CD14 gene in Italian patients suffering from Celiac Disease. J Med Genet 2003;40 108

6,368 2003 8

64. Boniotto M, Antcheva N, Zelezetsky I, Tossi A, Palombo V, Verga Falzacappa MV, Sgubin S, Braida L, Amoroso A, Crovella S. A study of the host defence peptide beta-defensin 3 in primates. Biochem J. 2003 Sep 15;374(Pt 3):707-14.

4,101 2003 42

65. Pirulli D, Marangella M, Amoroso A. Primary hyperoxaluria: Genotype-phenotype correlation. J Nephrol. 2003 Mar-Apr;16(2):297-309.

0,5 2003 27

66. Boniotto M, Radillo O, Braida L, Pirulli D, Citta A, Not T, Amoroso A, Crovella S. Detection of MBL-2 gene expression in intestinal biopsies of celiac patients by in situ reverse transcription polymerase chain reaction. Eur J Histochem. 2003;47(2):177-80.

1,118 2003

67. Scolari F, Viola BF, Ghiggeri GM, Caridi G, Amoroso A, Rampoldi L, Casari G.: Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease. J Nephrol. 2003 May-Jun;16(3):321-8.

0,5 2003

68. Casari G, Amoroso A. Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. J Nephrol. 2003 May-Jun;16(3):459

0,5 2003

69. Ferrera L, Caponnetto C, Marini V, Rizzi D, Bordo D, Penco S, Amoroso A, Origone P, Garre C. An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):167-70

1,639 2003 9

70. Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, Casari G. Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Human Molecular Genetics, 2003 12: 3369-3384

8,597 2003 79

71. Demori E, Devescovi R, Gambel Benussi D, Dolce S, Carrozzi M, Villa N, Miertus J, Amoroso A, Pecile V: Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report. Am J Med Genet. 2004 Oct 15;130A(3):288-94.

2,334 2004 8

72. Braida L, Boniotto M, Pontillo A, Tovo PA, Amoroso A, Crovella S. A single-nucleotide polymorphism in the human beta-defensin 1 gene is associated with HIV-1 infection in Italian children. AIDS. 2004 Jul 23;18(11):1598-1600

5,893 2004 80

73. Ventura M, Boniotto M, Pazienza M, Palumbo V, Cardone MF, Rocchi M, Tossi A, Amoroso A, Crovella S. Localization of beta-defensin genes in non human primates. Eur J Histochem. 2004 Apr-Jun;48(2):185-90.

1,118 2004

74. Verga Falzacappa MV, Segat L, Pappini B, Boniotto M, Amoroso A, Crovella S: Evolution of the mannose-binding lectin gene in primates. Gene and Immunity, 2004 Dec;5(8):653-61.

3,718 2004 7

75. Scolari F, Caridi GL, Tardanico R, Izzi C, Pirulli D, Rampoldi L, Amoroso A, Casari G, Ghiggeri GM: Uromodulin Storage Diseases. Clinical aspects and mechanisms. American Journal of Kidney Diseases, 2004 Dec;44(6):987-99

4,038 2004 50

76. Boniotto M, Braida L, Baldas V, Not T, Ventura A, Vatta S, Radillo O, Tedesco F, Percopo S, Montico M, Amoroso A, Crovella S. Evidence of a correlation between mannose binding lectin and celiac disease: a model for other autoimmune diseases. J Mol Med. 2005

4,256 2005 22

8

Apr;83(4):308-15

77. Chiocchetti A, Comi C, Indelicato M, Castelli L, Mesturini R, Bensi T, Mazzarino MC, Giordano M, D'Alfonso S, Momigliano-Richiardi P, Liguori M, Zorzon M, Amoroso A, Trojano M, Monaco F, Leone M, Magnani C, Dianzani U. Osteopontin gene haplotypes correlate with multiple sclerosis development and progression. J Neuroimmunol. 2005 Jun;163(1-2):172-8. Epub 2005 Apr 25.

2,704 2005 23

78. Franchello A, Paraluppi G, Romagnoli R, Petrarulo M, Vitale C, Pacitti A, Amoroso A, Marangella M, Salizzoni M. Severe course of primary hyperoxaluria and renal failure after domino hepatic transplantation. Am J Transplant. 2005 Sep;5(9):2324-7.

5,306 2005 6

79. Conca R, Pratico-Barbato L, Dall'Omo AM, Amoroso A. The Italian quality control scheme for crossmatching procedures and HLA sera screening: the 2002 pilot study. Arch Pathol Lab Med. 2005 Nov;129(11):1470-5.

1,698 2005 3

80. Coppo R, Amore A, Peruzzi L, Conti G, Roasio L, Amoroso A. [Kidney transplantation in children]. G Ital Nefrol. 2005 Jul-Aug;22(4):337-47.

2005

81. Schena FP, Cerullo G, Torres DD, Scolari F, Foramitti M, Amoroso A, Pirulli D, Floege J, Mertens PR, Zerres K, Alexopoulos E, Kirmizis D, Zelante L, Bisceglia L, Ghiggeri GM, Frasca GM; European IgA nephropathy Consortium. The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait. BMC Nephrol. 2005 Dec 5;6:14.

1,46 2005 18

82. Ghiggeri GM, Dagnino M, Parodi S, Zennaro C, Amoroso A, Pugliese F, Perfumo F. Discordant evolution of nephrotic syndrome in mono- and dizygotic twins. Pediatr Nephrol. 2006 Mar;21(3):419-22. Epub 2005 Dec 29.

1,440 2006 6

83. Biolo G, Amoroso A, Savoldi S, Bosutti A, Martone M, Pirulli D, Bianco F, Ulivi S, Bertok S, Artero M, Barazzoni R, Zanetti M, Grassi G, Guarnieri G, Panzetta G: Association of interferon-γ +874a polymorphism with reduced long-term inflammatory response in hemodialysis patients. Nephrol Dial Transplant. 2006 May;21(5):1317-22

2,840 2006 19

84. Miertus J, Borozdin W, Frecer V, Tonini G, Bertok S, Amoroso A, Miertus S, Kohlhase J: A

SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. Hum Genet. 2006 Mar;119(1-2):154-61. Epub 2006 Jan 3.

4,328 2006 10

85. Schena FP, Cerullo G, Torres DD, Scolari F, Foramitti M, Amoroso A, Pirulli D, Floege J, Mertens PR, Zerres K, Alexopoulos E, Kirmizis D, Zelante L, Bisceglia L on behalf of the European IgAN Consortium: Role of interferon-1 γ gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study. Eur J Hum Genet. 2006 Apr;14(4):488-96.

2,741 2006 16

86. Sizzano F, Magistroni P, Locatelli F, Busca A, Falda M, Affaticati P, Mazzola G, Dall’Omo AM, Amoroso A: Prognostic value of donor cytotoxic-T-lymphocyte precursor frequencies for acute graft-versus-host disease in hematopoietic stem cell transplantation from HLA matched sibling: a single center experience in a cohort of 92 patients. Haematologica. 2006 Mar;91(3):397-400

4,192 2006

87. Frisaldi E, Conca R, Magistroni P, Fasano ME, Mazzola G, Patanè F, Zingarelli E, Dall’Omo AM, Brusco A, Amoroso A: Prognostic values of soluble CD30 and CD30 gene polymorphisms in heart transplantation. Transplantation. 2006 Apr 27;81(8):1153-1156.

3,568 2006 14

88. Izzi C, Ravani P, Torres D, Prati E, Viola BF, Guerini S, Foramitti M, Frasca G, Amoroso A, Ghiggeri GM, Schena FP, Scolari F. IgA nephropathy: the presence of familial disease does not confer an increased risk for progression. Am J Kidney Dis. 2006 May;47(5):761-9.

4,038 2006

89. Garino E, Berrino M, Bertinetto F, Caropreso P, Chidichimo R, Dametto E, Fasano ME, Frisaldi E, Mazzola G, Tondat F, Boccadoro M, Bruno B, Amoroso A: Identification of a new allele, HLA-DRB5*0113, through three different molecular biology techniques. Tissue Antigens. 2006 May; 67(5):427-9.

2,158 2006

90. Di Duca M, Oleggini R, Sanna-Cherchi S, Pasquali L, Di Donato A, Parodi S, Bertelli R, Caridi G, Frasca G, Cerullo G, Amoroso A, Schena FP, Scolari F, Ghiggeri GM: Cis and trans regulatory elements in NPHS2 promoter: Implications in proteinuria and progression of renal diseases. Kidney Int. 2006 Oct;70(7):1332-41. Epub 2006 Aug 9.

4,927 2006 12

91. Bernascone I, Valvassori S, Di Pentima A, Santambrogio S, Lamorte G, Amoroso A, Scolari F, Ghiggeri GM, Casari G, Polishchuk R, Rampoldi L: Defective Intracellular Trafficking of

6,400 2006 24

9

Uromodulin Mutant Isoforms. Traffic 2006 Nov;7(11):1567-79. Online: 30-Aug-2006

92. Bertinetto FE, Dall'omo AM, Mazzola GA, Rendine S, Berrino M, Bertola L, Magistroni P, Caropreso P, Falda M, Locatelli F, Busca A, Amoroso A: Role of non-HLA genetic polymorphisms in graft-versus-host disease after haematopoietic stem cell transplantation. Int J Immunogenet 2006 Oct;33(5):375-384

1,479 2006

93. Bisceglia L, Cerullo G, Torres DD, Di Perna M, Scolari F, Foramitti M, Amoroso A, Bertok S, Floege J, Mertens PR,

Zerres K, Alexopoulos E, Kirmizis D, Mazzucco E, Zelante L, Schena FP

on behalf of the European IgA Nephropathy Consortium: Genetic heterogeneity in Italian IgA nephropathy families: evidence of two novel IGAN loci. American Journal of Human Genetics 79: 1130-1134, 2006

12,649 2006 30

94. Roccatello D, Fornasieri A, Giachino O, Rossi D, Beltrame A, Banfi G, Confalonieri R, Tarantino A, Pasquali S, Amoroso A, Savoldi S, Colombo V, Manno C, Ponzetto A, Moriconi L, Pani A, Rustichelli R, Di Belgiojoso GB, Comotti C, Quarenghi MI. Multicenter study on hepatitis C virus-related cryoglobulinemic glomerulonephritis. Am J Kidney Dis. 2007 Jan;49(1):69-82.

4,822 2007 43

95. Garino E, Miertus J, Berrino M, Bertinetto F, Caropreso P, Gay V, Mazzola G, Tondat F, Frecer V, Miertus S, Amoroso A. Molecular aspects of a novel HLA-A*02 allele (A*0297): the first HLA class I allele mutated at codon 232. Tissue Antigens. 2007 Apr;69(4):342-7.

2,158 2007 2

96. Sizzano F, Dametto E, Amoroso A: Evaluation of alloreactivity in responder-stimulator pairs by determination of gamma interferon-producing cells and cytotoxic-T-lymphocyte precursor frequencies. Clin Vaccine Immunol. 2007 Apr;14(4):481-3. Epub 2007 Feb 14

2,056

2007

97. Schena FP, Cerullo G, Torres DD, Zaza G, Cox S, Bisceglia L, Scolari F, Frascá G, Ghiggeri GM, Amoroso A; European IgA Nephropathy Consortium Searching for IgA nephropathy candidate genes: genetic studies combined with high throughput innovative investigations. Contrib Nephrol. 2007;157:80-9

1,926 2007

98. Carrozzo M, Dametto E, Fasano ME, Arduino P, Bertolusso G, Uboldi de Capei F, Rendine S, Amoroso A. Cytokine gene polymorphisms in hepatitis C virus-related oral lichen planus. Exp Dermatol. 2007 Sep;16(9):730-6.

3,259 2007

99. Guerci VI, Grasso DL, Morgutti M, Amoroso A, D’Andrea P, Bicego M, Gasparini P: Connexin 26 gene: defining the role of the V1531 mutation. Audiological Medicine 2007; 5 (3): 200 - 206

2007 1

100. Lantelme E, Orlando L, Porcedda P, Turinetto V, De Marchi M, Amoroso A, Mantovani S, Giachino C. An in vitro model of T cell receptor revision in mature human CD8(+) T cells. Mol Immunol. 2008 Jan;45(2):328-37; [Epub ahead of print 2007 Jul 27]

4,768 2008 3

101. Segat L, Fabris A, Padovan L, Milanese M, Pirulli D, Lupo F, Salizzoni M, Amoroso A, Crovella S. MBL2 and MASP2 gene polymorphisms in patients with hepatocellular carcinoma. J Viral Hepat. 2008 May;15(5):387-91.

3,326 2008 4

102. Porcedda P, Turinetto V, Brusco A, Cavalieri S, Lantelme E, Orlando L, Ricardi U, Amoroso A, Gregori D, Giachino C: A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. Cytometry A. 2008 Jun;73(6):508-16 Apr 22 PMID: 18431795

3,293 2008

103. Praticò Barbato L, Conca R, Magistroni P, Leonardi G, Oda A, Rosati F, Leone E, Tacconella M, Roggero S, Segoloni GP, Amoroso A: B-cell positive cross-match not due to anti hla class i antibodies and first kidney graft outcome. Transplant Immunology, 2008 Jul;19(3-4):238-43

2,093 2008

104. Pirulli D, Crovella S, Ulivi S, Zadro C, Bertok S, Rendine S, Scolari S, Foramitti M, Ravani P, Roccatello D, Savoldi S, Cerullo G, Lanzilotta SG, Bisceglia L, Zelante L, Floege J, Alexopoulos E, Kirmizis D, Ghiggeri GM, Frascà G, Schena FP, Amoroso A on behalf of the European IgAN Consortium: Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy Journal of Nephrology, J. Nephrol, 2009 January-February;22(1):152-159

1,138 2009 9

105. Marcocci E, Uliana V, Bruttini M, Artuso R, Cirillo Silengo M, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G, Battista Fogazzi G, Rosatelli C, Dresch Martinhago C, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F. Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. Nephrol Dial Transplant. 2009 May;24(5):1464-71. Epub 2009 Jan 7

3,167 2009 9

10

106. Porcedda P, Turinetto V, Orlando L, Lantelme E, Brusco A, De Marchi M, Amoroso A, Ricardi U, Gregori D, Giachino C.Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes. Radiother Oncol. 2009 Jul;92(1):133-7. Epub 2009 Jan 23

4,074 2009 10

107. Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G. Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Hum Mutat. 2009 May 28;30(6):910-917. [Epub ahead of print]

6,273 2009 10

108. Solidoro P, Delsedime L, Bergallo M, Libertucci D, Ruffini E, Costa C, Rinaldi M, Amoroso A, Baldi S. Combined Prophylaxis Decreases Incidence of CMV-Associated Pneumonia After Lung Transplantation. Transplant Proc. 2009 May;41(4):1347-8.

1,027 2009 2

109. Bevilacqua E, Fabris A, Floreano P, Pembrey L, Newell ML, Tovo PA, Amoroso A and EPHN collaborators. Genetic factors in mother-to-child transmission of HCV infection. Virology 2009 Jul 20;390(1):64-70. Epub 2009 May 29.

3,765 2009 10

110. Turinetto V, Porcedda P, Orlando L, De Marchi M, Amoroso A, Giachino C: The cyclin-dependent kinase inhibitor 5, 6-dichloro-1-beta-D-ribofuranosyl benzimidazole induces nongenotoxic, DNA replication-independent apoptosis of normal and leukemic cells, regardless of their p53 status. BMC Cancer 2009, 9:281

3,087 2009 2

111. Segat L, Milanese M, Pirulli D, Trevisiol C, Lupo F, Salizzoni M, Amoroso A, Crovella S.: Secreted protein acidic and rich in cysteine (SPARC) gene polymorphism association with hepatocellular carcinoma in Italian patients. J Gastroenterol Hepatol. 2009 Oct 9. [Epub ahead of print]

2,275 2009 1

112. Palumbo V, Segat L, Padovan L, Amoroso A, Trimarco B, Izzo R, Lembo G, Regiz Zagrosek V, Knoll R, Brancaccio M, Tarone G, Crovella S: Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients. BMC Medical Genetics 2009, 10:140.

2,762 2009 1

113. Zanone MM, Favaro E, Miceli I, Grassi G, Camussi E, Caorsi C, Amoroso A, Giovarelli M, Cavallo Perin P, Camussi G: Human mesenchymal stem cells modulate cellular immune response to islet antigen GAD in type 1 diabetes. J Clin Endocrinol Metab. 2010 Aug;95(8):3788-97. Epub 2010 May 13

6,325 2010 2

114. Robbiano A, Frecer V, Miertus J, Zadro C, Ulivi S, Bevilacqua E, Mandrile G, De Marchi M, Miertus S, Amoroso A: Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type I. J Nephrol 2010 Nov-Dec;23(6):667-76

1,138 2010

115. Carrozzo M, Elia A, Mereu V, Dametto E, Fasano M, Broccoletti R, Rendine S, Amoroso A:HLA-C/KIR genotypes in oral lichen planus patients infected or non infected with hepatitis C virus. Oral Diseases 2011 Apr;17(3):309-313. Epub 2010 Sep 23

1,922 2011

116. Turinetto V, Porcedda P, Minieri V, Orlando L, Lantelme E, Accomasso L, Amoroso A, De Marchi M, Zannini L, Delia D, Giachino C. A novel defect in mitochondrial p53 accumulation followin DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T cells. DNA Repair 2010 Nov 10;9(11):1200-8. Epub 2010 Oct 14

4,199 2011 1

117. Capobianchi MR, Sambri V, Castilletti C, Pierro AM, Rossini G, Gaibani P, Cavrini F, Selleri M, Meschi S, Lapa D, Di Caro A, Grossi P, De Cillia C, Venettoni S, Landini MP, Ippolito G, Nanni Costa A; Italian Transplant Network. Retrospective screening of solid organ donors in Italy, 2009, reveals unpredicted circulation of West Nile virus.Euro Surveill. 2010 Aug 26;15(34). pii: 19648.

2010

118. Rossi S, Tsirigos A, Amoroso A, Mascellani N, Rigoutsos I, Volinia S: OMiR: Identification of associations between OMIM diseases and microRNAs. Genomics. 2011 Feb;97(2):71-6. Epub 2010 Oct 23.

3,327 2011

119. Inturri S, Menegon S, Amoroso A, Torre C, Robino C. Linkage and linkage disequilibrium analysis of X-STRs in Italian families. Forensic Sci Int Genet. 2011 Mar;5(2):152-4. Epub 2010 Nov 18.

2,421 2011 3

120. Gharavi AG, Kiryluk K, Choi M, Li Y, Hou P, Xie J, Sanna-Cherchi S, Men CJ, Julian BA, Wyatt RJ, Novak J, He JC, Wang H, Lv J, Zhu L, Wang W, Wang Z, Yasuno K, Gunel M, Mane S, Umlauf S, Tikhonova I, Beerman I, Savoldi S, Magistroni R, Ghiggeri GM, Bodria M, Lugani F, Ravani P, Ponticelli C, Allegri L, Boscutti G, Frasca G, Amore A, Peruzzi L, Coppo R, Izzi C, Viola BF, Prati E, Salvadori M, Mignani R, Gesualdo L, Bertinetto F, Mesiano P, Amoroso A,

34,284 2011 2

11

Scolari F, Chen N, Zhang H, Lifton RP. Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet. 2011, Mar 13;43(4):321-7.

121. Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O. The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. Kidney Int. 2011 Aug;80(4):338-47

6,193 2011

122. Marrari M, Conca R, Praticò-Barbato L, Amoroso A, Duquesnoy RJ. Brief report: Why did two patients who type for HLA-B13 have antibodies that react with all Bw4 antigens except HLA-B13? Transpl Immunol. 2011 Dec;25(4):217-20

1,912 2011

123. Bertinetto FE, Calafell F, Roggero S, Chidichimo R, Garino E, Marcuccio C, Coppo R, Scolari F, Frascá GM, Savoldi S, Schena FP, Amoroso A; on behalf of the European IgA Nephropathy Consortium. Search for genetic association between IgA nephropathy and candidate genes selected by function or by gene mapping at loci IGAN2 and IGAN3. Nephrol Dial Transplant. 2011 Nov 29. [Epub ahead of print]

3,167 2011

124. Schaeffer C, Cattaneo A, Trudu M, Santambrogio S, Bernascone I, Giachino D, Caridi G, Campo A, Murtas C, Benoni S, Izzi C, De Marchi M, Amoroso A, Ghiggeri GM, Scolari F, Bachi A, Rampoldi L. Urinary secretion and extracellular aggregation of mutant uromodulin isoforms. Kidney Int. 2012 Jan 11. doi: 10.1038/ki.2011.456. [Epub ahead of print]

6,193 2012

125. Rendine S, Ferrero NM, Sacchi N, Costa C, Pollichieni S, Amoroso A.: Estimation of human leukocyte antigen class I and class II high-resolution allele and haplotype frequencies in the Italian population and comparison with other European populations.

126. Hum Immunol. 2012 Feb 1. [Epub ahead of print]

2,872 2012

Total I.F.: 549,73 Mean I.F. (for 166 papers published on journal with IF): 3,31 total citations: 2464 mean number of citations for 166 papers published on journal with IF : 14,84 H.Index: 29 FUNDING (since 2002)

A. Italian Department of University and Research grants: COFIN 2002 Disorders of the development of kidney and urinary tract: cellular and molecular mechanisms for the development and progression of monogenic and multifactorial diseases.

(Coordinator Prof. Graziella Zacchello, Padua) EUR 69,900

COFIN 2004 2004068197_002 New research strategy of the genes responsible for monogenic

diseases kidney EURO 79,700

COFIN 2006 New research strategy of the susceptibility genes of IgA nephropathy EURO 69572B B. Italian Funding for basic research RBNE01N4Z9 Leukocyte ectoenzymes and their involvement in the pathogenesis, diagnosis and

treatment of selected human diseases (coordinator Prof. Malavasi, Turin) EUR 60,000

RBNE01AY9E Identification and functional characterization of novel proteins involved in intracellular

signaling in cardiovascular disease (coordinator Prof. Tarone, Torino) 118,400 EURO

12

RBNE013JYM Constitution of a bank of DNA and cDNA for the identification of new diagnostic and

prognostic markers in IgA nephropathy (coordinator Prof. Schena, Bari) EUR 85,614 C. European Union Research grants Development of a genomic DNA bank of IgA nephropathy (IgAN) Patients and family members. New trends in genetics for the early diagnosis of familial IgAN (Coordinator Prof. Francesco Paolo Schena,

Bari). EURO 112,543 METRAGEN: Metrology on a cellular and macromolecular scale for regenerative medicine EURO 151,000 D. Italian Association for Cancer Research (AIRC) New Approaches for studying genetics, early molecular diagnosis and prognostic factors relevant for

Hepatic Cell Carcinoma (Coordinator) 542,350 EURO

E. TELETHON-Italian funds 2002 GGP02400 Identification of the Gene Responsible for Cystic Medullary Kidney Disease in seven

extended pedigrees collected within the Italian Collaborative Working Group 76,500 EURO

2010 GGP10092 Development of new strategies for the treatment of Primary Hyperoxaluria Type I EUR 60,900 E. Italian Department of Health 2002 Pathogenesis of diseases of the glomerular filtration barrier (Coordinator Professor Amoroso).

EURO 147,000 (29,500 for the Research Unit)

2002 Natural history of HCV genotype 2- (Coordinator prof. Massimo Colombo - Milan General

Hospital, Professor. Amoroso head of research unit) EUR 25,000 2002 Characterization of the immune response in Crohn's disease, correlation with the genotype of the NOD2 gene and study the action of new drugs in vitro immunoregulatory (Head: Dr. Presani

Gianni, Trieste, Prof. Amoroso, Manager Research Unit) EURO 10,000 2006 Clinical and biological effects of Transplant Genetics (Coordinator) EURO 125,000

2008 National Transplant Network-Impact of Impact of immunization in renal transplant waiting list and Strategies for improving graft accessibility (Coordinator) EUR 250,000 CCM Research Contract No. 2010 41: Development of the Integrated Risk Management in Clinical donation and transplantation of organs, tissues and cells (coordinator) 450,000 EURO

13

EDITORIAL OR REVIEW ACTIVITIES Editor of the Journal of Nephrology Reviewer for the following journals:

- American Journal of Medical Genetics - Arthritis and Rheumatism - Archives of Medical Research - BMC Nephrology - Clinical Chemistry - DNA and Cell Biology - Expert Reviews in Molecular Medicine - European Journal of Immunogenetics - Human Immunology - Italian Heart Journal - Journal of Internal Medicine - Journal of Pediatrics - Lancet - Molecular and Cellular Probes - Molecular Diagnosis & Therapy - Nephrology Dialysis and Transplantation - Pediatric Nephrology - Tissue Antigens - Transplant Immunology - Thrombosis and Haemostasis

INTERNATIONAL COLLABORATIONS Transplant immunogenetics

dr. Alessandro Nanni Costa Istituto Superiore di Sanità Centro Nazionale Trapianti – Roma

Genetics of Medullary Kidney Cystic Disease Dr. Luca Rampoldi Dulbecco Telethon Institute Molecular Genetics of Renal Disorders Unit Division of Genetics and Cell Biology San Raffaele Scientific Institute - Milan

Genetics of IgA Nephropathy Ali Gharavi, MD Division of Nephrology Columbia University New York, NY 10032

Anti-HLA antibodies Analysis Dott. Rene J. Duquesnoy

14

Division of Transplantation Pathology, Thomas E. Starzl Transplantation Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA

Bioinformatics Dr. Stefano Volinia Comprehensive Cancer Center, Ohio State University, Columbus, OH 43210, USA Dept. of Morphology and Embryology, University of Ferrara, Via Fossato di Mortara 64b, 44100 Ferrara, Italy

Genetics of Oral diseases Dr. Marco Carrozzo Department of Oral Medicine, School of Dental Sciences, Newcastle upon Tyne University, Newcastle upon Tyne, UK

Cristallographic studies Dr. Stanislav Miertus Cancer Research Institute, Slovak Academy of Sciences, Bratislava - Slovakia International Center for Science and High Technology UNIDO, Trieste – Italy

Immunogenetics of HCV infection Dr. Lucy Pembrey Centre for Paediatric Epidemiology and Biostatistics, Institute of Child Health & Great Ormond Hospital for Children NHS Trust, University College London, 30 Guilford Street, London WC1N 1EH, UK

Genetics of Primary Iperoxaluria Dott. Gill Rumsby Clinical Biochemistry, University College London (UCL) Hospitals National Health Service (NHS) Trust, London, United Kingdom

Alport Syndrome Prof. Alessandra Renieri Medical Genetics Unit - University of Siena Azienda Ospedaliera Universitaria Senese viale Bracci 2 - 53100 Siena, Italy

Genetics of IgA nephropathy Prof. Francesco P. Schena Renal, Dialysis and Transplant Unit Department of Emergency and Organ Transplant University of Bari Piazza G. Cesare 11 - 70124 Bari, Italy

He is a current member of the OXAL-Europe, the Consortium for the Study of Primary Oxaluria in Europe

He has worked with Prof. Richard Lifton (Yale University - New Haven, USA) for the draft definition of

the genetic component to IgA nephropathy He has worked with Dr. Matt Parton (Department of Neurology Institute of Psychiatry, Wellcome

Trust, London, United Kingdom) for the study of amyotrophic lateral sclerosis) He has worked as member of the collaborative transplants study (CTS), with the University of

Heidelberg for the analysis of and correlation between HLA compatibility and the outcome of transplantation.

He has participated in the project of the Nolan Foundation (London) for the typing of Bone Marrow

donors (1986). He has worked as part of the IX, X, XI and XII International Histocompatibility Workshops He has participated in the annual exercises of standardization of methods for Histocompatibility

within the Council of Europe in the years 1982-1992.

15

He has worked on the project IMUST for the evaluation of bone marrow transplantation between

unrelated individuals. He has been a member of the European Consortium on Cystic Fibrosis

ORGANIZATIONAL ACTIVITIES

INSTITUTIONAL ADMINISTRATIVE APPOINTMENTS - Member of the Board of Experts of the Italian Institute of Health from 2006 to 2009 - Member of the Scientific Committee of the Fondazione Veronesi for the “Progress of Sciences”, from

2009 - Member of the Interhospital Ethics Committee for the Hospitals Sant’Anna and Mauriziano, Torino,

Italy, from 2010 - Member of the Board of the International Institute for Human Rights Studies, Trieste, from 2006

PROFESSIONAL SOCIETIES - Member of the American Society of Human Genetics - Member of the Scientific Committee of the European Federation of Immunogenetics (EFI) - Member of the Board of the Italian Society of Human Genetics - Member of the Italian Society of Immunogenetics and Transplant Biology