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286 results

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Page 1
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M. Laghmani K, et al. Among authors: levtchenko e. N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27. N Engl J Med. 2016. PMID: 27120771 Free article.
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M. Schlingmann KP, et al. Among authors: levtchenko e. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5. J Am Soc Nephrol. 2016. PMID: 26047794 Free PMC article.
Gitelman syndrome.
Knoers NV, Levtchenko EN. Knoers NV, et al. Orphanet J Rare Dis. 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. Orphanet J Rare Dis. 2008. PMID: 18667063 Free PMC article. Review.
Management of bone disease in cystinosis: Statement from an international conference.
Hohenfellner K, Rauch F, Ariceta G, Awan A, Bacchetta J, Bergmann C, Bechtold S, Cassidy N, Deschenes G, Elenberg E, Gahl WA, Greil O, Harms E, Herzig N, Hoppe B, Koeppl C, Lewis MA, Levtchenko E, Nesterova G, Santos F, Schlingmann KP, Servais A, Soliman NA, Steidle G, Sweeney C, Treikauskas U, Topaloglu R, Tsygin A, Veys K, V Vigier R, Zustin J, Haffner D. Hohenfellner K, et al. Among authors: levtchenko e. J Inherit Metab Dis. 2019 Sep;42(5):1019-1029. doi: 10.1002/jimd.12134. Epub 2019 Aug 5. J Inherit Metab Dis. 2019. PMID: 31177550 Free PMC article.
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.
Verploegen MFA, Vargas-Poussou R, Walsh SB, Alpay H, Amouzegar A, Ariceta G, Atmis B, Bacchetta J, Bárány P, Baron S, Bayrakci US, Belge H, Besouw M, Blanchard A, Bökenkamp A, Boyer O, Burgmaier K, Calò LA, Decramer S, Devuyst O, van Dyck M, Ferraro PM, Fila M, Francisco T, Ghiggeri GM, Gondra L, Guarino S, Hooman N, Hoorn EJ, Houillier P, Kamperis K, Kari JA, Konrad M, Levtchenko E, Lucchetti L, Lugani F, Marzuillo P, Mohidin B, Neuhaus TJ, Osman A, Papizh S, Perelló M, Rookmaaker MB, Conti VS, Santos F, Sawaf G, Serdaroglu E, Szczepanska M, Taroni F, Topaloglu R, Trepiccione F, Vidal E, Wan ER, Weber L, Yildirim ZY, Yüksel S, Zlatanova G, Bockenhauer D, Emma F, Nijenhuis T. Verploegen MFA, et al. Among authors: levtchenko e. Nephrol Dial Transplant. 2022 Nov 23;37(12):2474-2486. doi: 10.1093/ndt/gfac029. Nephrol Dial Transplant. 2022. PMID: 35137195 Free PMC article.
Simplified screening criteria for HNF1B analysis.
Raaijmakers AA, Mekahli D, Levtchenko EN. Raaijmakers AA, et al. Kidney Int. 2015 Jun;87(6):1258-9. doi: 10.1038/ki.2015.49. Kidney Int. 2015. PMID: 26024028 Free article. No abstract available.
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results.
Bassanese G, Wlodkowski T, Servais A, Heidet L, Roccatello D, Emma F, Levtchenko E, Ariceta G, Bacchetta J, Capasso G, Jankauskiene A, Miglinas M, Ferraro PM, Montini G, Oh J, Decramer S, Levart TK, Wetzels J, Cornelissen E, Devuyst O, Zurowska A, Pape L, Buescher A, Haffner D, Marcun Varda N, Ghiggeri GM, Remuzzi G, Konrad M, Longo G, Bockenhauer D, Awan A, Andersone I, Groothoff JW, Schaefer F. Bassanese G, et al. Among authors: levtchenko e. Orphanet J Rare Dis. 2021 Jun 2;16(1):251. doi: 10.1186/s13023-021-01872-8. Orphanet J Rare Dis. 2021. PMID: 34078418 Free PMC article.
Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation.
Löwik MM, Groenen PJ, Pronk I, Lilien MR, Goldschmeding R, Dijkman HB, Levtchenko EN, Monnens LA, van den Heuvel LP. Löwik MM, et al. Among authors: levtchenko en. Kidney Int. 2007 Nov;72(10):1198-203. doi: 10.1038/sj.ki.5002469. Epub 2007 Aug 22. Kidney Int. 2007. PMID: 17713465 Free article.
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
Bongers EM, Huysmans FT, Levtchenko E, de Rooy JW, Blickman JG, Admiraal RJ, Huygen PL, Cruysberg JR, Toolens PA, Prins JB, Krabbe PF, Borm GF, Schoots J, van Bokhoven H, van Remortele AM, Hoefsloot LH, van Kampen A, Knoers NV. Bongers EM, et al. Among authors: levtchenko e. Eur J Hum Genet. 2005 Aug;13(8):935-46. doi: 10.1038/sj.ejhg.5201446. Eur J Hum Genet. 2005. PMID: 15928687
Cystinosis: a new perspective.
Veys KR, Besouw MT, Pinxten AM, Dyck MV, Casteels I, Levtchenko EN. Veys KR, et al. Acta Clin Belg. 2016 Jun;71(3):131-7. doi: 10.1179/2295333714Y.0000000113. Acta Clin Belg. 2016. PMID: 25560059 Review.
286 results