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Items: 6

1.

The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor.

Syrén ML, Borsa Ghiringhelli N, Bettinelli A, Colussi G, Vargas-Poussou R, Tammaro F, Coviello DA, Tedeschi S; Italian Collaborative Group for Gitelman Syndrome.

Nephrol Dial Transplant. 2011 Feb;26(2):557-61. doi: 10.1093/ndt/gfq458. Epub 2010 Jul 30.

PMID:
20675610
2.

Long-term follow-up of patients with Bartter syndrome type I and II.

Puricelli E, Bettinelli A, Borsa N, Sironi F, Mattiello C, Tammaro F, Tedeschi S, Bianchetti MG; Italian Collaborative Group for Bartter Syndrome.

Nephrol Dial Transplant. 2010 Sep;25(9):2976-81. doi: 10.1093/ndt/gfq119. Epub 2010 Mar 10.

PMID:
20219833
3.

Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus.

Sánchez E, Palomino-Morales RJ, Ortego-Centeno N, Jiménez-Alonso J, González-Gay MA, López-Nevot MA, Sánchez-Román J, de Ramón E, González-Escribano MF, Pons-Estel BA, D'Alfonso S, Sebastiani GD; Italian collaborative group, Alarcón-Riquelme ME, Martín J.

Hum Mol Genet. 2009 Oct 1;18(19):3739-48. doi: 10.1093/hmg/ddp301. Epub 2009 Jul 7.

PMID:
19584085
4.

Kallikrein genes are associated with lupus and glomerular basement membrane-specific antibody-induced nephritis in mice and humans.

Liu K, Li QZ, Delgado-Vega AM, Abelson AK, Sánchez E, Kelly JA, Li L, Liu Y, Zhou J, Yan M, Ye Q, Liu S, Xie C, Zhou XJ, Chung SA, Pons-Estel B, Witte T, de Ramón E, Bae SC, Barizzone N, Sebastiani GD, Merrill JT, Gregersen PK, Gilkeson GG, Kimberly RP, Vyse TJ, Kim I, D'Alfonso S, Martin J, Harley JB, Criswell LA; Profile Study Group; Italian Collaborative Group; German Collaborative Group; Spanish Collaborative Group; Argentinian Collaborative Group; SLEGEN Consortium, Wakeland EK, Alarcón-Riquelme ME, Mohan C.

J Clin Invest. 2009 Apr;119(4):911-23. doi: 10.1172/JCI36728.

5.

A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus.

Orrú V, Tsai SJ, Rueda B, Fiorillo E, Stanford SM, Dasgupta J, Hartiala J, Zhao L, Ortego-Centeno N, D'Alfonso S; Italian Collaborative Group, Arnett FC, Wu H, Gonzalez-Gay MA, Tsao BP, Pons-Estel B, Alarcon-Riquelme ME, He Y, Zhang ZY, Allayee H, Chen XS, Martin J, Bottini N.

Hum Mol Genet. 2009 Feb 1;18(3):569-79. doi: 10.1093/hmg/ddn363. Epub 2008 Nov 3.

6.

Recombinant human LH supplementation versus recombinant human FSH (rFSH) step-up protocol during controlled ovarian stimulation in normogonadotrophic women with initial inadequate ovarian response to rFSH. A multicentre, prospective, randomized controlled trial.

De Placido G, Alviggi C, Perino A, Strina I, Lisi F, Fasolino A, De Palo R, Ranieri A, Colacurci N, Mollo A; Italian Collaborative Group on Recombinant Human Luteinizing Hormone.

Hum Reprod. 2005 Feb;20(2):390-6. Epub 2004 Dec 2.

PMID:
15576390

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