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Items: 1 to 50 of 56

1.

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.

Schaeffer C, Izzi C, Vettori A, Pasqualetto E, Cittaro D, Lazarevic D, Caridi G, Gnutti B, Mazza C, Jovine L, Scolari F, Rampoldi L.

Sci Rep. 2019 Aug 12;9(1):11601. doi: 10.1038/s41598-019-48014-6.

2.

Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA.

Grati FR, Ferreira J, Benn P, Izzi C, Verdi F, Vercellotti E, Dalpiaz C, D'Ajello P, Filippi E, Volpe N, Malvestiti F, Maggi F, Simoni G, Frusca T, Cirelli G, Bracalente G, Re AL, Surico D, Ghi T, Prefumo F.

Genet Med. 2019 Aug 8. doi: 10.1038/s41436-019-0630-y. [Epub ahead of print]

PMID:
31391534
3.

Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.

Dordoni C, Prefumo F, Iascone M, Pinelli L, Palumbo G, Bondioni MP, Savoldi G, Donzelli C, Sartori E, Valente EM, Izzi C.

Prenat Diagn. 2019 Jul;39(8):652-655. doi: 10.1002/pd.5494. Epub 2019 Jul 2. No abstract available.

PMID:
31158925
4.

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.

Mackay DJG, Bliek J, Lombardi MP, Russo S, Calzari L, Guzzetti S, Izzi C, Selicorni A, Melis D, Temple K, Maher E, Brioude F, Netchine I, Eggermann T.

Genet Res (Camb). 2019 Mar 4;101:e3. doi: 10.1017/S001667231900003X.

PMID:
30829192
5.

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasa M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simoes-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S.

Nat Genet. 2019 Apr;51(4):764. doi: 10.1038/s41588-019-0376-0.

PMID:
30816350
6.

Prenatal ultrasound diagnosis of cavitation of the ganglionic eminence.

Prefumo F, Petrilli G, Palumbo G, Sartori E, Izzi C, Pinelli L.

Ultrasound Obstet Gynecol. 2019 Feb 10. doi: 10.1002/uog.20236. [Epub ahead of print]

PMID:
30740797
7.

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasà M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simões-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S.

Nat Genet. 2019 Jan;51(1):117-127. doi: 10.1038/s41588-018-0281-y. Epub 2018 Dec 21. Erratum in: Nat Genet. 2019 Apr;51(4):764.

8.

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.

Furlan F, Rovelli A, Rigoldi M, Filocamo M, Tappino B, Friday D, Gasperini S, Mariani S, Izzi C, Bondioni MP, Gellera C, Venerando A, Villa N, Del Carmen Rodriguez Perez M, Pavan F, Biondi A, Parini R.

Ital J Pediatr. 2018 Nov 16;44(Suppl 2):128. doi: 10.1186/s13052-018-0566-x.

9.

Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations.

Chinni E, Tiscia G, Favuzzi G, Cappucci F, Malcangi G, Bagna R, Izzi C, Rizzi D, De Stefano V, Grandone E.

Blood Transfus. 2019 May;17(3):247-254. doi: 10.2450/2018.0123-18. Epub 2018 Oct 8.

10.

Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature.

Agostini A, Marchetti D, Izzi C, Cocco I, Pinelli L, Accorsi P, Iascone Maria R, Giordano L.

Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):687-690. doi: 10.1002/ajmg.b.32677. Epub 2018 Oct 22. Review.

PMID:
30345598
11.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Dec 7;101(6):1034. doi: 10.1016/j.ajhg.2017.11.003. No abstract available.

12.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018. Erratum in: Am J Hum Genet. 2017 Dec 7;101(6):1034.

13.

[ADPKD and Heart].

Liut F, Izzi C, Dallera N, Scolari F.

G Ital Nefrol. 2017 Mar;34(Suppl 69):119-130. Review. Italian.

PMID:
28682033
14.

Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.

Bondioni MP, Pazzaglia UE, Izzi C, Di Gaetano G, Laffranchi F, Baldi M, Prefumo F.

Radiol Med. 2017 Nov;122(11):880-891. doi: 10.1007/s11547-017-0784-0. Epub 2017 Jul 3.

PMID:
28674909
15.

Chromosomal Microarray and Fetal Growth Restriction.

Prefumo F, Fichera A, Fratelli N, Izzi C.

Fetal Diagn Ther. 2017;42(3):240. doi: 10.1159/000458723. Epub 2017 Mar 4. No abstract available.

PMID:
28259892
16.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S.

N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. Epub 2017 Jan 25.

17.

[Hyperuricemia and Gout].

Delbarba E, Terlizzi V, Dallera N, Izzi C, Scolari F.

G Ital Nefrol. 2016 Malattie Metaboliche e Rene;33(S68). pii: gin/33.S68.16. Italian.

PMID:
27960024
18.

[ADPKD: predictors of Renal Disease progression].

Scolari F, Dallera N, Saletti A, Terlizzi V, Izzi C.

G Ital Nefrol. 2016 Sep-Oct;33(5). pii: gin/33.5.17. Italian.

PMID:
27796018
19.

[Molecular diagnosis of ADPKD].

Scolari F, Savoldi G, Mazza C, Izzi C.

G Ital Nefrol. 2016 Sep-Oct;33(5). pii: gin/33.5.16. Italian.

PMID:
27796017
20.

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M.

Sci Rep. 2016 Aug 8;6:30850. doi: 10.1038/srep30850.

21.

[Genetics and genetic counseling].

Izzi C, Liut F, Dallera N, Mazza C, Magistroni R, Savoldi G, Scolari F.

G Ital Nefrol. 2016 Mar-Apr;33(2). pii: gin/33.2.4. Review. Italian.

PMID:
27067213
22.

[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease].

Magistroni R, Izzi C, Scolari F.

G Ital Nefrol. 2016 Mar-Apr;33(2). pii: gin/33.2.3. Italian.

PMID:
27067212
23.

[Genetics of mesangial IgA nephropathy].

Delbarba E, Pedroni B, Dallera N, Izzi C, Scolari F.

G Ital Nefrol. 2015;32 Suppl 64. pii: gin/32.S64.12. Italian.

PMID:
26479059
24.

Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis.

Malvestiti F, Agrati C, Grimi B, Pompilii E, Izzi C, Martinoni L, Gaetani E, Liuti MR, Trotta A, Maggi F, Simoni G, Grati FR.

Prenat Diagn. 2015 Nov;35(11):1117-27. doi: 10.1002/pd.4656. Epub 2015 Sep 11.

PMID:
26213308
25.

Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis.

Gregorini G, Izzi C, Ravani P, Obici L, Dallera N, Del Barba A, Negrinelli A, Tardanico R, Nardi M, Biasi L, Scalvini T, Merlini G, Scolari F.

Kidney Int. 2015 Jun;87(6):1223-9. doi: 10.1038/ki.2014.389. Epub 2015 Jan 7.

PMID:
25565309
26.

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Kiryluk K, Li Y, Scolari F, Sanna-Cherchi S, Choi M, Verbitsky M, Fasel D, Lata S, Prakash S, Shapiro S, Fischman C, Snyder HJ, Appel G, Izzi C, Viola BF, Dallera N, Del Vecchio L, Barlassina C, Salvi E, Bertinetto FE, Amoroso A, Savoldi S, Rocchietti M, Amore A, Peruzzi L, Coppo R, Salvadori M, Ravani P, Magistroni R, Ghiggeri GM, Caridi G, Bodria M, Lugani F, Allegri L, Delsante M, Maiorana M, Magnano A, Frasca G, Boer E, Boscutti G, Ponticelli C, Mignani R, Marcantoni C, Di Landro D, Santoro D, Pani A, Polci R, Feriozzi S, Chicca S, Galliani M, Gigante M, Gesualdo L, Zamboli P, Battaglia GG, Garozzo M, Maixnerová D, Tesar V, Eitner F, Rauen T, Floege J, Kovacs T, Nagy J, Mucha K, Pączek L, Zaniew M, Mizerska-Wasiak M, Roszkowska-Blaim M, Pawlaczyk K, Gale D, Barratt J, Thibaudin L, Berthoux F, Canaud G, Boland A, Metzger M, Panzer U, Suzuki H, Goto S, Narita I, Caliskan Y, Xie J, Hou P, Chen N, Zhang H, Wyatt RJ, Novak J, Julian BA, Feehally J, Stengel B, Cusi D, Lifton RP, Gharavi AG.

Nat Genet. 2014 Nov;46(11):1187-96. doi: 10.1038/ng.3118. Epub 2014 Oct 12.

27.

The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia.

Izzi C, Dallera N, Manenti C, Caridi G, Ghiggeri G, Rampoldi L, Scolari F.

Kidney Int. 2014 Oct;86(4):863-4. doi: 10.1038/ki.2013.445. No abstract available.

28.

Uromodulin: from monogenic to multifactorial diseases.

Scolari F, Izzi C, Ghiggeri GM.

Nephrol Dial Transplant. 2015 Aug;30(8):1250-6. doi: 10.1093/ndt/gfu300. Epub 2014 Sep 16. Review.

PMID:
25228753
29.

Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.

Pazzaglia UE, Donzelli CM, Izzi C, Baldi M, Di Gaetano G, Bondioni M.

Skeletal Radiol. 2014 Sep;43(9):1205-15. doi: 10.1007/s00256-014-1899-1. Epub 2014 May 25.

PMID:
24859745
30.

Fetal abdominal wall defects.

Prefumo F, Izzi C.

Best Pract Res Clin Obstet Gynaecol. 2014 Apr;28(3):391-402. doi: 10.1016/j.bpobgyn.2013.10.003. Epub 2013 Dec 3. Review.

PMID:
24342556
31.

Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.

Savoldi G, Izzi C, Signorelli M, Bondioni MP, Romani C, Lanzi G, Moratto D, Verdoni L, Pinotti M, Prefumo F, Superti-Furga A, Pilotta A.

Am J Med Genet A. 2013 Oct;161A(10):2614-9. doi: 10.1002/ajmg.a.36115. Epub 2013 Aug 15.

PMID:
23950054
32.

Mutations in DSTYK and dominant urinary tract malformations.

Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, Materna-Kiryluk A, Santamaria G, Murtas C, Ristoska-Bojkovska N, Izzi C, Kacak N, Bianco B, Giberti S, Gigante M, Piaggio G, Gesualdo L, Vukic DK, 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 VD, Drummond IA, Tasic V, Lifton RP, Ghiggeri GM, Gharavi AG.

N Engl J Med. 2013 Aug 15;369(7):621-9. doi: 10.1056/NEJMoa1214479. Epub 2013 Jul 17.

33.

Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.

Migliore C, Athanasakis E, Dahoun S, Wonkam A, Lees M, Calabrese O, Connell F, Lynch SA, Izzi C, Pompilii E, Thakur S, van Maarle M, Wilson LC, Meroni G.

Eur J Med Genet. 2013 Aug;56(8):404-10. doi: 10.1016/j.ejmg.2013.05.009. Epub 2013 Jun 19.

PMID:
23791568
34.

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA.

Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296.

PMID:
23420520
35.

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

Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, Carrea A, Somenzi D, Murtas C, Ristoska-Bojkovska N, Izzi C, Bianco B, Zaniew M, Flogelova H, Weng PL, 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 WK, Lifton RP, Sanders S, State M, Clark LN, Saraga M, Padmanabhan S, Dominiczak AF, Foroud T, Gesualdo L, Gucev Z, Allegri L, Latos-Bielenska A, Cusi D, Scolari F, Tasic V, Hakonarson H, Ghiggeri GM, Gharavi AG.

Am J Hum Genet. 2012 Dec 7;91(6):987-97. doi: 10.1016/j.ajhg.2012.10.007. Epub 2012 Nov 15.

36.

Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis.

Kiryluk K, Li Y, Sanna-Cherchi S, Rohanizadegan M, Suzuki H, Eitner F, Snyder HJ, Choi M, Hou P, Scolari F, Izzi C, Gigante M, Gesualdo L, Savoldi S, Amoroso A, Cusi D, Zamboli P, Julian BA, Novak J, Wyatt RJ, Mucha K, Perola M, Kristiansson K, Viktorin A, Magnusson PK, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Boland A, Metzger M, Thibaudin L, Wanner C, Jager KJ, Goto S, Maixnerova D, Karnib HH, Nagy J, Panzer U, Xie J, Chen N, Tesar V, Narita I, Berthoux F, Floege J, Stengel B, Zhang H, Lifton RP, Gharavi AG.

PLoS Genet. 2012;8(6):e1002765. doi: 10.1371/journal.pgen.1002765. Epub 2012 Jun 21.

37.

[Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates].

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.

G Ital Nefrol. 2012 Mar-Apr;29(2):137-41. Italian. No abstract available.

PMID:
22538938
38.

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.

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.

Kidney Int. 2012 Apr;81(8):769-78. doi: 10.1038/ki.2011.456. Epub 2012 Jan 11.

39.

Genome-wide association study identifies susceptibility loci for IgA nephropathy.

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, Scolari F, Chen N, Zhang H, Lifton RP.

Nat Genet. 2011 Mar 13;43(4):321-7. doi: 10.1038/ng.787.

40.

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

Uliana V, Marcocci E, Mucciolo M, Meloni I, Izzi C, Manno C, Bruttini M, Mari F, Scolari F, Renieri A, Salviati L.

Pediatr Nephrol. 2011 May;26(5):717-24. doi: 10.1007/s00467-010-1693-9. Epub 2010 Dec 14.

PMID:
21380622
41.

The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy.

Izzi C, Maffei P, Milan G, Tardanico R, Foini P, Marshall J, Marega A, Scolari F.

Kidney Int. 2011 Mar;79(6):691-692. doi: 10.1038/ki.2010.514. No abstract available.

42.

[Genetics and nosological classification of renal cystic diseases].

Izzi C, Sottini L, Dallera N, Capistrano M, Foini P, Scolari F.

G Ital Nefrol. 2010 Sep-Oct;27 Suppl 50:S63-9. Italian.

PMID:
20922698
43.

Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.

Gentilin B, Forzano F, Bedeschi MF, Rizzuti T, Faravelli F, Izzi C, Lituania M, Rodriguez-Perez C, Bondioni MP, Savoldi G, Grosso E, Botta G, Viora E, Baffico AM, Lalatta F.

Ultrasound Obstet Gynecol. 2010 Sep;36(3):315-23. doi: 10.1002/uog.7761.

44.

Type I hyperprolinemia: genotype/phenotype correlations.

Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D.

Hum Mutat. 2010 Aug;31(8):961-5. doi: 10.1002/humu.21296.

PMID:
20524212
45.

IgA nephropathy--the case for a genetic basis becomes stronger.

Kiryluk K, Gharavi AG, Izzi C, Scolari F.

Nephrol Dial Transplant. 2010 Feb;25(2):336-8. doi: 10.1093/ndt/gfp593. Epub 2009 Nov 13. No abstract available.

PMID:
19914997
46.

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.

Micale L, Turturo MG, Fusco C, Augello B, Jurado LA, Izzi C, Digilio MC, Milani D, Lapi E, Zelante L, Merla G.

Eur J Hum Genet. 2010 Mar;18(3):317-23. doi: 10.1038/ejhg.2009.181. Epub 2009 Oct 21.

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Renal outcome in patients with congenital anomalies of the kidney and urinary tract.

Sanna-Cherchi S, Ravani P, Corbani V, Parodi S, Haupt R, Piaggio G, Innocenti ML, Somenzi D, Trivelli A, Caridi G, Izzi C, Scolari F, Mattioli G, Allegri L, Ghiggeri GM.

Kidney Int. 2009 Sep;76(5):528-33. doi: 10.1038/ki.2009.220. Epub 2009 Jun 17.

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A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.

Weng PL, Sanna-Cherchi S, Hensle T, Shapiro E, Werzberger A, Caridi G, Izzi C, Konka A, Reese AC, Cheng R, Werzberger S, Schlussel RN, Burk RD, Lee JH, Ravazzolo R, Scolari F, Ghiggeri GM, Glassberg K, Gharavi AG.

J Am Soc Nephrol. 2009 Jul;20(7):1633-40. doi: 10.1681/ASN.2008111199. Epub 2009 May 14.

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

Sanna-Cherchi S, Caridi G, Weng PL, Dagnino M, Seri M, Konka A, Somenzi D, Carrea A, Izzi C, Casu D, Allegri L, Schmidt-Ott KM, Barasch J, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG.

Am J Hum Genet. 2007 Mar;80(3):539-49. Epub 2007 Jan 26.

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IgA nephropathy: the presence of familial disease does not confer an increased risk for progression.

Izzi C, Ravani P, Torres D, Prati E, Viola BF, Guerini S, Foramitti M, Frascà G, Amoroso A, Ghiggeri GM, Schena FP, Scolari F.

Am J Kidney Dis. 2006 May;47(5):761-9.

PMID:
16632014

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