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Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Among authors: mekahli d. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
Rationale, design and objectives of ARegPKD, a European ARPKD registry study.
Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, Duzova A, Goebel H, Haffner D, Hero B, Hoppe B, Illig T, Jankauskiene A, Klopp N, König J, Litwin M, Mekahli D, Ranchin B, Sander A, Testa S, Weber LT, Wicher D, Yuzbasioglu A, Zerres K, Dötsch J, Schaefer F, Liebau MC; ESCAPE Study Group; GPN Study Group. Ebner K, et al. Among authors: mekahli d. BMC Nephrol. 2015 Feb 18;16:22. doi: 10.1186/s12882-015-0002-z. BMC Nephrol. 2015. PMID: 25886171 Free PMC article.
Simplified screening criteria for HNF1B analysis.
Raaijmakers AA, Mekahli D, Levtchenko EN. Raaijmakers AA, et al. Among authors: mekahli d. Kidney Int. 2015 Jun;87(6):1258-9. doi: 10.1038/ki.2015.49. Kidney Int. 2015. PMID: 26024028 Free article. No abstract available.
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
Audrézet MP, Corbiere C, Lebbah S, Morinière V, Broux F, Louillet F, Fischbach M, Zaloszyc A, Cloarec S, Merieau E, Baudouin V, Deschênes G, Roussey G, Maestri S, Visconti C, Boyer O, Abel C, Lahoche A, Randrianaivo H, Bessenay L, Mekahli D, Ouertani I, Decramer S, Ryckenwaert A, Cornec-Le Gall E, Salomon R, Ferec C, Heidet L. Audrézet MP, et al. Among authors: mekahli d. J Am Soc Nephrol. 2016 Mar;27(3):722-9. doi: 10.1681/ASN.2014101051. Epub 2015 Jul 2. J Am Soc Nephrol. 2016. PMID: 26139440 Free PMC article.
The Case | Hypercalcemia in a child with chronic kidney disease.
De Rechter S, Levtchenko E, Evenepoel P, Mekahli D. De Rechter S, et al. Among authors: mekahli d. Kidney Int. 2016 Jul;90(1):233-4. doi: 10.1016/j.kint.2015.12.060. Kidney Int. 2016. PMID: 27312459 Free article. No abstract available.
Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-EDTA) Registry.
Mekahli D, van Stralen KJ, Bonthuis M, Jager KJ, Balat A, Benetti E, Godefroid N, Edvardsson VO, Heaf JG, Jankauskiene A, Kerecuk L, Marinova S, Puteo F, Seeman T, Zurowska A, Pirenne J, Schaefer F, Groothoff JW; ESPN/ERA-EDTA Registry. Mekahli D, et al. Am J Kidney Dis. 2016 Nov;68(5):782-788. doi: 10.1053/j.ajkd.2016.06.019. Epub 2016 Aug 21. Am J Kidney Dis. 2016. PMID: 27555106
Evidence for Bone and Mineral Metabolism Alterations in Children With Autosomal Dominant Polycystic Kidney Disease.
De Rechter S, Bacchetta J, Godefroid N, Dubourg L, Cochat P, Maquet J, Raes A, De Schepper J, Vermeersch P, Van Dyck M, Levtchenko E, D'Haese P, Evenepoel P, Mekahli D. De Rechter S, et al. Among authors: d haese p, mekahli d. J Clin Endocrinol Metab. 2017 Nov 1;102(11):4210-4217. doi: 10.1210/jc.2017-01157. J Clin Endocrinol Metab. 2017. PMID: 29092060
124 results