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Journal Article
Beck, Bodo B., Trachtman, Howard ORCID: 0000-0001-7447-9489, Gitman, Michael, Miller, Ilene, Sayer, John A.
ORCID: 0000-0003-1881-3782, Pannes, Andrea, Baasner, Anne, Hildebrandt, Friedhelm and Wolf, Matthias T. F.
(2011).
Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD.
Am. J. Kidney Dis., 58 (5).
S. 821 - 826.
PHILADELPHIA:
W B SAUNDERS CO-ELSEVIER INC.
ISSN 0272-6386
Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung ORCID: 0000-0002-8741-6177, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A.
ORCID: 0000-0003-1881-3782, Bockenhauer, Detlef
ORCID: 0000-0001-5878-941X, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P. and Hildebrandt, Friedhelm
(2016).
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Kidney Int., 89 (2).
S. 468 - 476.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755
Mueller, Roman-Ulrich, Haas, Christian S. and Sayer, John A. ORCID: 0000-0003-1881-3782
(2018).
Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan.
Clin. Kidney J., 11 (1).
S. 62 - 70.
OXFORD:
OXFORD UNIV PRESS.
ISSN 2048-8513
Mueller, Roman-Ulrich, Messchendorp, A. Lianne, Birn, Henrik, Capasso, Giovambattista ORCID: 0000-0003-3469-8614, Cornec-Le Gall, Emilie, Devuyst, Olivier
ORCID: 0000-0003-3744-4767, van Eerde, Albertien, Guirchoun, Patrick, Harris, Tess, Hoorn, Ewout J., Knoers, Nine V. A. M., Korst, Uwe, Mekahli, Djalila, Le Meur, Yannick, Nijenhuis, Tom, Ong, Albert C. M., Sayer, John A., Schaefer, Franz, Servais, Aude, Tesar, Vladimir, Torra, Roser, Walsh, Stephen B. and Gansevoort, Ron T.
.
An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International.
Nephrol. Dial. Transplant..
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2385
Wopperer, Florian J., Knaup, Karl X., Stanzick, Kira J., Schneider, Karen, Jobst-Schwan, Tilman, Ekici, Arif B., Uebe, Steffen, Wenzel, Andrea, Schliep, Stefan, Schuerfeld, Carsten, Seitz, Randolf, Bernhardt, Wanja, Goedel, Markus, Wiesener, Antje, Popp, Bernt ORCID: 0000-0002-3679-1081, Stark, Klaus J., Groene, Hermann-Josef, Friedrich, Bjoern, Weiss, Martin, Basic-Jukic, Nikolina
ORCID: 0000-0002-0221-2758, Schiffer, Mario, Schroeppel, Bernd, Huettel, Bruno, Beck, Bodo B., Sayer, John A., Ziegler, Christine, Buettner-Herold, Maike, Amann, Kerstin, Heid, Iris M., Reis, Andre, Pasutto, Francesca and Wiesener, Michael S.
(2022).
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.
Kidney Int., 102 (2).
S. 405 - 421.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755
Zivna, Martina, Kidd, Kendrah, Zaidan, Mohamad, Vyletal, Petr ORCID: 0000-0002-9357-1237, Baresova, Veronika, Hodanova, Katerina, Sovova, Jana, Hartmannova, Hana, Votruba, Miroslav, Treslova, Helena, Jedlickova, Ivana, Sikora, Jakub, Hulkova, Helena, Robins, Victoria, Hnizda, Ales, Zivny, Jan, Papagregoriou, Gregory, Mesnard, Laurent, Beck, Bodo B., Wenzel, Andrea, Tory, Kalman, Haeeffner, Karsten, Wolf, Matthias T. F., Bleyer, Michael E., Sayer, John A., Ong, Albert C. M., Balogh, Lidia, Jakubowska, Anna, Laszkiewicz, Agnieszka
ORCID: 0000-0002-0317-4255, Clissold, Rhian, Shaw-Smith, Charles, Munshi, Raj, Haws, Robert M., Izzi, Claudia, Capelli, Irene, Santostefano, Marisa, Graziano, Claudio
ORCID: 0000-0003-3875-6869, Scolari, Francesco, Sussman, Amy, Trachtman, Howard
ORCID: 0000-0001-7447-9489, Decramer, Stephane, Matignon, Marie, Grimbert, Philippe, Shoemaker, Lawrence R., Stavrou, Christoforos, Abdelwahed, Mayssa, Belghith, Neila, Sinclair, Matthew, Claes, Kathleen, Kopel, Tal, Moe, Sharon, Deltas, Constantinos, Knebelmann, Bertrand, Rampoldi, Luca, Kmoch, Stanislav and Bleyer, Anthony J.
(2020).
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int., 98 (6).
S. 1589 - 1605.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755