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Page 1
Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome.
Fakhouri F, Jablonski M, Lepercq J, Blouin J, Benachi A, Hourmant M, Pirson Y, Dürrbach A, Grünfeld JP, Knebelmann B, Frémeaux-Bacchi V. Fakhouri F, et al. Among authors: knebelmann b. Blood. 2008 Dec 1;112(12):4542-5. doi: 10.1182/blood-2008-03-144691. Epub 2008 Jul 24. Blood. 2008. PMID: 18658028 Free article.
Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.
Antignac C, Knebelmann B, Drouot L, Gros F, Deschênes G, Hors-Cayla MC, Zhou J, Tryggvason K, Grünfeld JP, Broyer M, et al. Antignac C, et al. Among authors: knebelmann b. J Clin Invest. 1994 Mar;93(3):1195-207. doi: 10.1172/JCI117073. J Clin Invest. 1994. PMID: 8132760 Free PMC article.
A molecular approach to inherited kidney disorders.
Knebelmann B, Antignac C, Gubler NC, Grünfeld JP. Knebelmann B, et al. Kidney Int. 1993 Dec;44(6):1205-16. doi: 10.1038/ki.1993.370. Kidney Int. 1993. PMID: 8301921 Free article. Review. No abstract available.
Genetic, clinical, and morphologic heterogeneity in Alport's syndrome.
Gubler MC, Antignac C, Deschênes G, Knebelmann B, Hors-Cayla MC, Grünfeld JP, Broyer M, Habib R. Gubler MC, et al. Among authors: knebelmann b. Adv Nephrol Necker Hosp. 1993;22:15-35. Adv Nephrol Necker Hosp. 1993. PMID: 8427057 Review. No abstract available.
170 results