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Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report
Eckardt, Kai-Uwe, Alper, Seth L., Antignac, Corinne, Bleyer, Anthony J., Chauveau, Dominique, Dahan, Karin, Deltas, Constantinos, Hosking, Andrew, Kmoch, Stanislav, Rampoldi, Luca, Wiesener, Michael, Wolf, Matthias T., Devuyst, Olivier
Published in Kidney international (01.10.2015)
Published in Kidney international (01.10.2015)
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Journal Article
Conference Proceeding
Nephronophthisis: a pathological and genetic perspective
Wolf, Matthias T. F., Bonsib, Stephen M., Larsen, Christopher P., Hildebrandt, Friedhelm
Published in Pediatric nephrology (Berlin, West) (01.07.2024)
Published in Pediatric nephrology (Berlin, West) (01.07.2024)
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Journal Article
Nephronophthisis
Wolf, Matthias T. F., Hildebrandt, Friedhelm
Published in Pediatric nephrology (Berlin, West) (01.02.2011)
Published in Pediatric nephrology (Berlin, West) (01.02.2011)
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Journal Article
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency
Wood, William D., Elmaghrabi, Ayah, Gotway, Garrett, Wolf, Matthias T. F.
Published in Pediatric nephrology (Berlin, West) (01.06.2022)
Published in Pediatric nephrology (Berlin, West) (01.06.2022)
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Journal Article
A rare case of hyporeninemic hypertension: Answers
Mashmoushi, Ahmad, Choudhary, Abha, Thomas, Christie P., Wolf, Matthias T. F.
Published in Pediatric nephrology (Berlin, West) (01.03.2021)
Published in Pediatric nephrology (Berlin, West) (01.03.2021)
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Journal Article
A rare case of hyporeninemic hypertension: Questions
Mashmoushi, Ahmad, Choudhary, Abha, Thomas, Christie P., Wolf, Matthias T. F.
Published in Pediatric nephrology (Berlin, West) (01.03.2021)
Published in Pediatric nephrology (Berlin, West) (01.03.2021)
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Journal Article
Evidence of Oligogenic Inheritance in Nephronophthisis
Hoefele, Julia, Wolf, Matthias T.F., O’Toole, John F., Otto, Edgar A., Schultheiss, Ulla, De[Combining Circumflex Accent]schenes, Georges, Attanasio, Massimo, Utsch, Boris, Antignac, Corinne, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.10.2007)
Published in Journal of the American Society of Nephrology (01.10.2007)
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Journal Article
Ghrelin enhances tubular magnesium absorption in the kidney
Nie, Mingzhu, Zhang, Jing, Bal, Manjot, Duran, Claudia, An, Sung Wan, Zigman, Jeffrey M., Baum, Michel, Hiremath, Chitkale, Marciano, Denise K., Wolf, Matthias T. F.
Published in Frontiers in physiology (04.04.2024)
Published in Frontiers in physiology (04.04.2024)
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Journal Article
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations
Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo, Nuernberg, Peter, Reinhardt, Richard, Reis, André, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno, Beck, Bodo B.
Published in Scientific reports (08.03.2018)
Published in Scientific reports (08.03.2018)
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Journal Article
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Delous, Marion, Baala, Lekbir, Salomon, Rémi, Laclef, Christine, Vierkotten, Jeanette, Tory, Kàlmàn, Golzio, Christelle, Lacoste, Tiphanie, Besse, Laurianne, Ozilou, Catherine, Moutkine, Imane, Hellman, Nathan E, Anselme, Isabelle, Silbermann, Flora, Vesque, Christine, Gerhardt, Christoph, Rattenberry, Eleanor, Wolf, Matthias T F, Gubler, Marie Claire, Martinovic, Jéléna, Encha-Razavi, Féréchté, Boddaert, Nathalie, Gonzales, Marie, Macher, Marie Alice, Nivet, Hubert, Champion, Gérard, Berthélémé, Jean Pierre, Niaudet, Patrick, McDonald, Fiona, Hildebrandt, Friedhelm, Johnson, Colin A, Vekemans, Michel, Antignac, Corinne, Rüther, Ulrich, Schneider-Maunoury, Sylvie, Attié-Bitach, Tania, Saunier, Sophie
Published in Nature genetics (01.07.2007)
Published in Nature genetics (01.07.2007)
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Journal Article
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
Otto, Edgar A, Schermer, Bernhard, Obara, Tomoko, O'Toole, John F, Hiller, Karl S, Mueller, Adelheid M, Ruf, Rainer G, Hoefele, Julia, Beekmann, Frank, Landau, Daniel, Foreman, John W, Goodship, Judith A, Strachan, Tom, Kispert, Andreas, Wolf, Matthias T, Gagnadoux, Marie F, Nivet, Hubert, Antignac, Corinne, Walz, Gerd, Drummond, Iain A, Benzing, Thomas, Hildebrandt, Friedhelm
Published in Nature genetics (01.08.2003)
Published in Nature genetics (01.08.2003)
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Journal Article
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression
Zaucke, Frank, Boehnlein, Joana M., Steffens, Sarah, Polishchuk, Roman S., Rampoldi, Luca, Fischer, Andreas, Pasch, Andreas, Boehm, Christoph W. A., Baasner, Anne, Attanasio, Massimo, Hoppe, Bernd, Hopfer, Helmut, Beck, Bodo B., Sayer, John A., Hildebrandt, Friedhelm, Wolf, Matthias T. F.
Published in Human molecular genetics (15.05.2010)
Published in Human molecular genetics (15.05.2010)
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Journal Article
Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD
Beck, Bodo B., Trachtman, Howard, Gitman, Michael, Miller, Ilene, Sayer, John A., Pannes, Andrea, Baasner, Anne, Hildebrandt, Friedhelm, Wolf, Matthias T.F.
Published in American journal of kidney diseases (01.11.2011)
Published in American journal of kidney diseases (01.11.2011)
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Journal Article
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution
Otto, Edgar, Hoefele, Julia, Ruf, Rainer, Mueller, Adelheid M., Hiller, Karl S., Wolf, Matthias T.F., Schuermann, Maria J., Becker, Achim, Birkenhäger, Ralf, Sudbrak, Ralf, Hennies, Hans C., Nürnberg, Peter, Hildebrandt, Friedhelm
Published in American journal of human genetics (01.11.2002)
Published in American journal of human genetics (01.11.2002)
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Journal Article
A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations
Hildebrandt, Friedhelm, Heeringa, Saskia F., Rüschendorf, Franz, Attanasio, Massimo, Nürnberg, Gudrun, Becker, Christian, Seelow, Dominik, Huebner, Norbert, Chernin, Gil, Vlangos, Christopher N., Zhou, Weibin, O'Toole, John F., Hoskins, Bethan E., Wolf, Matthias T. F., Hinkes, Bernward G., Chaib, Hassan, Ashraf, Shazia, Schoeb, Dominik S., Ovunc, Bugsu, Allen, Susan J., Vega-Warner, Virginia, Wise, Eric, Harville, Heather M., Lyons, Robert H., Washburn, Joseph, MacDonald, James, Nürnberg, Peter, Otto, Edgar A.
Published in PLoS genetics (01.01.2009)
Published in PLoS genetics (01.01.2009)
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Journal Article
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing
Otto, Edgar A, Helou, Juliana, Allen, Susan J, O'Toole, John F, Wise, Eric L, Ashraf, Shazia, Attanasio, Massimo, Zhou, Weibin, Wolf, Matthias T.F, Hildebrandt, Friedhelm
Published in Human mutation (01.03.2008)
Published in Human mutation (01.03.2008)
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Journal Article
Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β
Bleyer, Anthony J., Wolf, Matthias T., Kidd, Kendrah O., Zivna, Martina, Kmoch, Stanislav
Published in Pediatric nephrology (Berlin, West) (01.05.2022)
Published in Pediatric nephrology (Berlin, West) (01.05.2022)
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Journal Article
Uromodulin regulates renal magnesium homeostasis through the ion channel transient receptor potential melastatin 6 (TRPM6)
Nie, Mingzhu, Bal, Manjot S., Liu, Jie, Yang, Zhufeng, Rivera, Carolina, Wu, Xue-Ru, Hoenderop, Joost G.J., Bindels, René J.M., Marciano, Denise K., Wolf, Matthias T.F.
Published in The Journal of biological chemistry (19.10.2018)
Published in The Journal of biological chemistry (19.10.2018)
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Journal Article
Early therapy with sirolimus reduces size of a large solid renal mass but not seizure activity in an infant with tuberous sclerosis
Hani, Salar Bani, Artunduaga, Maddy, Ludwig, Kathleen, Bissler, John J., Wolf, Matthias T. F.
Published in Journal of nephrology (01.01.2024)
Published in Journal of nephrology (01.01.2024)
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Journal Article
Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients
Nie, Mingzhu, Bal, Manjot S., Yang, Zhufeng, Liu, Jie, Rivera, Carolina, Wenzel, Andrea, Beck, Bodo B., Sakhaee, Khashayar, Marciano, Denise K., Wolf, Matthias T.F.
Published in Journal of the American Society of Nephrology (01.11.2016)
Published in Journal of the American Society of Nephrology (01.11.2016)
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Journal Article