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VPS13A Disease.
Peikert K, Dobson-Stone C, Rampoldi L, Miltenberger-Miltenyi G, Neiman A, De Camilli P, Hermann A, Walker RH, Monaco AP, Danek A. Peikert K, et al. Among authors: rampoldi l. 2002 Jun 14 [updated 2023 Mar 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Jun 14 [updated 2023 Mar 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301561 Free Books & Documents. Review.
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Olinger E, Schaeffer C, Kidd K, Elhassan EAE, Cheng Y, Dufour I, Schiano G, Mabillard H, Pasqualetto E, Hofmann P, Fuster DG, Kistler AD, Wilson IJ, Kmoch S, Raymond L, Robert T; Genomics England Research Consortium; Eckardt KU, Bleyer AJ Sr, Köttgen A, Conlon PJ, Wiesener M, Sayer JA, Rampoldi L, Devuyst O. Olinger E, et al. Among authors: rampoldi l. Proc Natl Acad Sci U S A. 2022 Aug 16;119(33):e2114734119. doi: 10.1073/pnas.2114734119. Epub 2022 Aug 10. Proc Natl Acad Sci U S A. 2022. PMID: 35947615 Free PMC article.
Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases.
Li Y, Cheng Y, Consolato F, Schiano G, Chong MR, Pietzner M, Nguyen NQH, Scherer N, Biggs ML, Kleber ME, Haug S, Göçmen B, Pigeyre M, Sekula P, Steinbrenner I, Schlosser P, Joseph CB, Brody JA, Grams ME, Hayward C, Schultheiss UT, Krämer BK, Kronenberg F, Peters A, Seissler J, Steubl D, Then C, Wuttke M, März W, Eckardt KU, Gieger C, Boerwinkle E, Psaty BM, Coresh J, Oefner PJ, Pare G, Langenberg C, Scherberich JE, Yu B, Akilesh S, Devuyst O, Rampoldi L, Köttgen A. Li Y, et al. Among authors: rampoldi l. JCI Insight. 2022 May 23;7(10):e157035. doi: 10.1172/jci.insight.157035. JCI Insight. 2022. PMID: 35446786 Free PMC article.
Uromodulin: Roles in Health and Disease.
Schaeffer C, Devuyst O, Rampoldi L. Schaeffer C, et al. Among authors: rampoldi l. Annu Rev Physiol. 2021 Feb 10;83:477-501. doi: 10.1146/annurev-physiol-031620-092817. Annu Rev Physiol. 2021. PMID: 33566673 Review.
Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.
Izzi C, Dordoni C, Econimo L, Delbarba E, Grati FR, Martin E, Mazza C, Savoldi G, Rampoldi L, Alberici F, Scolari F. Izzi C, et al. Among authors: rampoldi l. Kidney Int Rep. 2020 Oct 7;5(12):2341-2350. doi: 10.1016/j.ekir.2020.09.042. eCollection 2020 Dec. Kidney Int Rep. 2020. PMID: 33305128 Free PMC article.
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