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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A. Macia MS, et al. Among authors: leh s. Am J Hum Genet. 2017 Feb 2;100(2):372. doi: 10.1016/j.ajhg.2017.01.025. Am J Hum Genet. 2017. PMID: 28157543 Free PMC article. No abstract available.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A. Macia MS, et al. Among authors: leh s. Am J Hum Genet. 2017 Feb 2;100(2):323-333. doi: 10.1016/j.ajhg.2016.12.011. Epub 2017 Jan 12. Am J Hum Genet. 2017. PMID: 28089251 Free PMC article.
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH. Bredrup C, et al. Among authors: leh sm. Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20. Am J Hum Genet. 2011. PMID: 22019273 Free PMC article.
A mother and daughter with unexplained renal failure.
Christiansen RE, Fiskerstrand T, Leh S, Haukanes BI, Singh AK, Fervenza FC, Svarstad E. Christiansen RE, et al. Among authors: leh s. Nephron Clin Pract. 2011;119(1):c1-9, discussion c7-8. doi: 10.1159/000327428. Epub 2011 May 27. Nephron Clin Pract. 2011. PMID: 21625178 Free article. No abstract available.
Thrombotic microangiopathy mimicking membranoproliferative glomerulonephritis.
Brackman D, Sartz L, Leh S, Kristoffersson AC, Bjerre A, Tati R, Frémeaux-Bacchi V, Karpman D. Brackman D, et al. Among authors: leh s. Nephrol Dial Transplant. 2017 Mar 1;32(3):584. doi: 10.1093/ndt/gfx013. Nephrol Dial Transplant. 2017. PMID: 28168280 No abstract available.
Pathomechanisms of renal Fabry disease.
Eikrem Ø, Skrunes R, Tøndel C, Leh S, Houge G, Svarstad E, Marti HP. Eikrem Ø, et al. Among authors: leh s. Cell Tissue Res. 2017 Jul;369(1):53-62. doi: 10.1007/s00441-017-2609-9. Epub 2017 Apr 12. Cell Tissue Res. 2017. PMID: 28401309 Review. No abstract available.
Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease.
Skrunes R, Tøndel C, Leh S, Larsen KK, Houge G, Davidsen ES, Hollak C, van Kuilenburg ABP, Vaz FM, Svarstad E. Skrunes R, et al. Among authors: leh s. Clin J Am Soc Nephrol. 2017 Sep 7;12(9):1470-1479. doi: 10.2215/CJN.01820217. Epub 2017 Jun 16. Clin J Am Soc Nephrol. 2017. PMID: 28625968 Free PMC article.
119 results