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Page 1
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M. Bedin M, et al. Among authors: klaus g. J Clin Invest. 2020 Jan 2;130(1):335-344. doi: 10.1172/JCI129937. J Clin Invest. 2020. PMID: 31613795 Free PMC article. Clinical Trial.
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H, Muller J. Geoffroy V, et al. Among authors: klaus g. Hum Mutat. 2018 Jul;39(7):983-992. doi: 10.1002/humu.23539. Epub 2018 May 8. Hum Mutat. 2018. PMID: 29688594 Free article.
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. 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
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M. Bedin M, et al. Among authors: klaus g. J Clin Invest. 2022 Jun 1;132(11):e161852. doi: 10.1172/JCI161852. J Clin Invest. 2022. PMID: 35642643 Free PMC article. No abstract available.
Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.
Lehnhardt A, Karnatz C, Ahlenstiel-Grunow T, Benz K, Benz MR, Budde K, Büscher AK, Fehr T, Feldkötter M, Graf N, Höcker B, Jungraithmayr T, Klaus G, Koehler B, Konrad M, Kranz B, Montoya CR, Müller D, Neuhaus TJ, Oh J, Pape L, Pohl M, Royer-Pokora B, Querfeld U, Schneppenheim R, Staude H, Spartà G, Timmermann K, Wilkening F, Wygoda S, Bergmann C, Kemper MJ. Lehnhardt A, et al. Among authors: klaus g. Clin J Am Soc Nephrol. 2015 May 7;10(5):825-31. doi: 10.2215/CJN.10141014. Epub 2015 Mar 27. Clin J Am Soc Nephrol. 2015. PMID: 25818337 Free PMC article.
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. BMC Nephrol. 2015 Feb 18;16:22. doi: 10.1186/s12882-015-0002-z. BMC Nephrol. 2015. PMID: 25886171 Free PMC article.
Transitional Care and Adherence of Adolescents and Young Adults After Kidney Transplantation in Germany and Austria: A Binational Observatory Census Within the TRANSNephro Trial.
Kreuzer M, Prüfe J, Oldhafer M, Bethe D, Dierks ML, Müther S, Thumfart J, Hoppe B, Büscher A, Rascher W, Hansen M, Pohl M, Kemper MJ, Drube J, Rieger S, John U, Taylan C, Dittrich K, Hollenbach S, Klaus G, Fehrenbach H, Kranz B, Montoya C, Lange-Sperandio B, Ruckenbrodt B, Billing H, Staude H, Heindl-Rusai K, Brunkhorst R, Pape L. Kreuzer M, et al. Among authors: klaus g. Medicine (Baltimore). 2015 Dec;94(48):e2196. doi: 10.1097/MD.0000000000002196. Medicine (Baltimore). 2015. PMID: 26632907 Free PMC article.
Transition structures and timing of transfer from paediatric to adult-based care after kidney transplantation in Germany: a qualitative study.
Prüfe J, Dierks ML, Bethe D, Oldhafer M, Müther S, Thumfart J, Feldkötter M, Büscher A, Sauerstein K, Hansen M, Pohl M, Drube J, Thiel F, Rieger S, John U, Taylan C, Dittrich K, Hollenbach S, Klaus G, Fehrenbach H, Kranz B, Montoya C, Lange-Sperandio B, Ruckenbrod B, Billing H, Staude H, Brunkhorst R, Rusai K, Pape L, Kreuzer M. Prüfe J, et al. Among authors: klaus g. BMJ Open. 2017 Jun 12;7(6):e015593. doi: 10.1136/bmjopen-2016-015593. BMJ Open. 2017. PMID: 28606904 Free PMC article.
Presentation of pediatric Henoch-Schönlein purpura nephritis changes with age and renal histology depends on biopsy timing.
Hennies I, Gimpel C, Gellermann J, Möller K, Mayer B, Dittrich K, Büscher AK, Hansen M, Aulbert W, Wühl E, Nissel R, Schalk G, Weber LT, Pohl M, Wygoda S, Beetz R, Klaus G, Fehrenbach H, König S, Staude H, Beringer O, Bald M, Walden U, von Schnakenburg C, Bertram G, Wallot M, Häffner K, Wiech T, Hoyer PF, Pohl M; German Society of Pediatric Nephrology. Hennies I, et al. Among authors: klaus g. Pediatr Nephrol. 2018 Feb;33(2):277-286. doi: 10.1007/s00467-017-3794-1. Epub 2017 Oct 5. Pediatr Nephrol. 2018. PMID: 28983704
339 results