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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F. O'Toole JF, et al. Among authors: heeringa s. J Clin Invest. 2010 Mar;120(3):791-802. doi: 10.1172/JCI40076. Epub 2010 Feb 22. J Clin Invest. 2010. PMID: 20179356 Free PMC article.
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rötig A, Nürnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Müller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocaña C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F. Heeringa SF, et al. J Clin Invest. 2011 May;121(5):2013-24. doi: 10.1172/JCI45693. Epub 2011 Apr 11. J Clin Invest. 2011. PMID: 21540551 Free PMC article.
A systematic approach to mapping recessive disease genes in individuals from outbred populations.
Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O'Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Schoeb DS, Ovunc B, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nürnberg P, Otto EA. Hildebrandt F, et al. Among authors: heeringa sf. PLoS Genet. 2009 Jan;5(1):e1000353. doi: 10.1371/journal.pgen.1000353. Epub 2009 Jan 23. PLoS Genet. 2009. PMID: 19165332 Free PMC article.
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F. Gbadegesin R, et al. Among authors: heeringa sf. Nephrol Dial Transplant. 2008 Apr;23(4):1291-7. doi: 10.1093/ndt/gfm759. Epub 2007 Dec 8. Nephrol Dial Transplant. 2008. PMID: 18065803
A novel TRPC6 mutation that causes childhood FSGS.
Heeringa SF, Möller CC, Du J, Yue L, Hinkes B, Chernin G, Vlangos CN, Hoyer PF, Reiser J, Hildebrandt F. Heeringa SF, et al. PLoS One. 2009 Nov 10;4(11):e7771. doi: 10.1371/journal.pone.0007771. PLoS One. 2009. PMID: 19936226 Free PMC article.
Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.
Chernin G, Vega-Warner V, Schoeb DS, Heeringa SF, Ovunc B, Saisawat P, Cleper R, Ozaltin F, Hildebrandt F; Members of the GPN Study Group. Chernin G, et al. Among authors: heeringa sf. Clin J Am Soc Nephrol. 2010 Sep;5(9):1655-62. doi: 10.2215/CJN.09351209. Epub 2010 Jul 1. Clin J Am Soc Nephrol. 2010. PMID: 20595692 Free PMC article.
166 results