A critical role of TRPM channel-kinase for human magnesium transport

od Schlingmann, Karl P, Gudermann, Thomas
Izdano 2005

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects

od Seyberth, Hannsjörg W., Schlingmann, Karl P.
Izdano 2011

Juvenile onset IIH and CYP24A1 mutations

od Schlingmann, Karl P., Cassar, Walburga, Konrad, Martin
izdano v Bone Rep (2018)

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases

od Pronicka, Ewa, Ciara, Elżbieta, Halat, Paulina, Janiec, Agnieszka, Wójcik, Marek, Rowińska, Elżbieta, Rokicki, Dariusz, Płudowski, Paweł, Wojciechowska, Ewa, Wierzbicka, Aldona, Książyk, Janusz B., Jacoszek, Agnieszka, Konrad, Martin, Schlingmann, Karl P., Litwin, Mieczysław
izdano v J Appl Genet (2017)

CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

od Arjona, Francisco J., de Baaij, Jeroen H. F., Schlingmann, Karl P., Lameris, Anke L. L., van Wijk, Erwin, Flik, Gert, Regele, Sabrina, Korenke, G. Christoph, Neophytou, Birgit, Rust, Stephan, Reintjes, Nadine, Konrad, Martin, Bindels, René J. M., Hoenderop, Joost G. J.
Izdano 2014

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

od Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja, Holm, Rikke, Baumann, Matthias, König, Jens, Lee, Jessica J.Y., Drögemöller, Britt, Imminger, Katrin, Beck, Bodo B., Altmüller, Janine, Thiele, Holger, Waldegger, Siegfried, van’t Hoff, William, Kleta, Robert, Warth, Richard, van Karnebeek, Clara D.M., Vilsen, Bente, Bockenhauer, Detlef, Konrad, Martin
izdano v Am J Hum Genet (2018)

Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement

od Konrad, Martin, Schaller, André, Seelow, Dominik, Pandey, Amit V., Waldegger, Siegfried, Lesslauer, Annegret, Vitzthum, Helga, Suzuki, Yoshiro, Luk, John M., Becker, Christian, Schlingmann, Karl P., Schmid, Marcel, Rodriguez-Soriano, Juan, Ariceta, Gema, Cano, Francisco, Enriquez, Ricardo, Jüppner, Harald, Bakkaloglu, Sevcan A., Hediger, Matthias A., Gallati, Sabina, Neuhauss, Stephan C. F., Nürnberg, Peter, Weber, Stefanie
Izdano 2006

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

od Park, Julien H., Hogrebe, Max, Grüneberg, Marianne, DuChesne, Ingrid, von der Heiden, Ava L., Reunert, Janine, Schlingmann, Karl P., Boycott, Kym M., Beaulieu, Chandree L., Mhanni, Aziz A., Innes, A. Micheil, Hörtnagel, Konstanze, Biskup, Saskia, Gleixner, Eva M., Kurlemann, Gerhard, Fiedler, Barbara, Omran, Heymut, Rutsch, Frank, Wada, Yoshinao, Tsiakas, Konstantinos, Santer, René, Nebert, Daniel W., Rust, Stephan, Marquardt, Thorsten
izdano v Am J Hum Genet (2015)

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

od Schlingmann, Karl P., Ruminska, Justyna, Kaufmann, Martin, Dursun, Ismail, Patti, Monica, Kranz, Birgitta, Pronicka, Ewa, Ciara, Elzbieta, Akcay, Teoman, Bulus, Derya, Cornelissen, Elisabeth A.M., Gawlik, Aneta, Sikora, Przemysław, Patzer, Ludwig, Galiano, Matthias, Boyadzhiev, Veselin, Dumic, Miroslav, Vivante, Asaf, Kleta, Robert, Dekel, Benjamin, Levtchenko, Elena, Bindels, René J., Rust, Stephan, Forster, Ian C., Hernando, Nati, Jones, Glenville, Wagner, Carsten A., Konrad, Martin
izdano v J Am Soc Nephrol (2016)

Management of bone disease in cystinosis: Statement from an international conference

od Hohenfellner, Katharina, Rauch, Frank, Ariceta, Gema, Awan, Atif, Bacchetta, Justine, Bergmann, Carsten, Bechtold, Susanne, Cassidy, Noelle, Deschenes, Geroges, Elenberg, Ewa, Gahl, William A., Greil, Oliver, Harms, Erik, Herzig, Nadine, Hoppe, Bernd, Koeppl, Christian, Lewis, Malcolm A., Levtchenko, Elena, Nesterova, Galina, Santos, Fernando, Schlingmann, Karl P., Servais, Aude, Soliman, Neveen A., Steidle, Guenther, Sweeney, Clodagh, Treikauskas, Ulrike, Topaloglu, Rezan, Tsygin, Alexey, Veys, Koenraad, v. Vigier, Rodo, Zustin, Jozef, Haffner, Dieter
izdano v J Inherit Metab Dis (2019)

Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness

od Schlingmann, Karl P., Renigunta, Aparna, Hoorn, Ewout J., Forst, Anna-Lena, Renigunta, Vijay, Atanasov, Velko, Mahendran, Sinthura, Barakat, Tahsin Stefan, Gillion, Valentine, Godefroid, Nathalie, Brooks, Alice S., Lugtenberg, Dorien, Lake, Jennifer, Debaix, Huguette, Rudin, Christoph, Knebelmann, Bertrand, Tellier, Stephanie, Rousset-Rouvière, Caroline, Viering, Daan, de Baaij, Jeroen H. F., Weber, Stefanie, Palygin, Oleg, Staruschenko, Alexander, Kleta, Robert, Houillier, Pascal, Bockenhauer, Detlef, Devuyst, Olivier, Vargas-Poussou, Rosa, Warth, Richard, Zdebik, Anselm A., Konrad, Martin
izdano v J Am Soc Nephrol (2021)