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

Bằng Schlingmann, Karl P, Gudermann, Thomas
Được phát hành 2005

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

Bằng Seyberth, Hannsjörg W., Schlingmann, Karl P.
Được phát hành 2011

Juvenile onset IIH and CYP24A1 mutations

Bằng Schlingmann, Karl P., Cassar, Walburga, Konrad, Martin
Xuất bản năm 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

Bằng 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
Xuất bản năm J Appl Genet (2017)

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

Bằng 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.
Được phát hành 2014

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

Bằng 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
Xuất bản năm 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

Bằng 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
Được phát hành 2006

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Bằng 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
Xuất bản năm Am J Hum Genet (2015)

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

Bằng 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
Xuất bản năm J Am Soc Nephrol (2016)

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

Bằng 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
Xuất bản năm J Inherit Metab Dis (2019)

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

Bằng 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
Xuất bản năm J Am Soc Nephrol (2021)