Christa Schmidt

Lynch Syndrome Associated with Two <i>MLH1</i> Promoter Variants and Allelic Imbalance of <i>MLH1</i> Expression

Luke B. Hesson, Deborah Packham, Chau‐To Kwok et al. · Human Mutation · 2015 · 53 citations · Full text

Genetics, Pathology, Molecular Genetics +17

Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria

Christa Schmidt · Kidney International · 2003 · 38 citations

Natural Sciences, Genetics, Molecular Biology +8

Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease

Carsten Bergmann, Valeska Frank, Fabian Küpper et al. · Journal of Human Genetics · 2006 · 26 citations · Full text

Urology, Mendelian Disorder, Genetic Disorder +10

Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease

Christa Schmidt, Alexandra Albers, Juergen Tomiuk et al. · Clinical Nephrology · 2002 · 26 citations

Genetics, Renal Pathology, Genetic Epidemiology +22

Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.

Christa Schmidt, Juergen Tomiuk, Elke Botzenhart et al. · PubMed · 2003 · 25 citations

Genetics, Renal Pathology, Genetic Epidemiology +21