Lothar Károlyi

Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes [published erratum appears in Hum Mol Genet 1997 Apr;6(4):650]

Lothar Károlyi, Martin Konrad, Arnold Köckerling et al. · Human Molecular Genetics · 1997 · 190 citations · Full text

Electrolyte Disorder, Genetics, Renal Pathology +19

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

Henny H. Lemmink, Nine Knoers, Lothar Károlyi et al. · Kidney International · 1998 · 158 citations · Full text

Predominant Localization, Mendelian Disorder, Gitelman Syndrome +7

Novel Molecular Variants of the Na-K-2Cl Cotransporter Gene Are Responsible for Antenatal Bartter Syndrome

Rosa Vargas‐Poussou, Delphine Feldmann, Martin Vollmer et al. · The American Journal of Human Genetics · 1998 · 155 citations · Full text

Developmental Anomaly, Developmental Biology, Genetic Disorder +6

Mutations in the ROMK Gene in Antenatal Bartter Syndrome Are Associated with Impaired K+Channel Function

Christian Derst, Martin Konrad, Arnold Köckerling et al. · Biochemical and Biophysical Research Communications · 1997 · 99 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +9

Algorithm for the identification of bacterial pathogens in positive blood cultures by real-time LightCycler polymerase chain reaction (PCR) with sequence-specific probes

Nele Wellinghausen, Beate Wirths, Axel R. Franz et al. · Diagnostic Microbiology and Infectious Disease · 2004 · 85 citations

Polymerase Chain Reaction, Medical Microbiology, Sequence-specific Probes +12