Franziska Ringpfeil

Pseudoxanthoma elasticum: Mutations in the <i>MRP6</i> gene encoding a transmembrane ATP-binding cassette (ABC) transporter

Franziska Ringpfeil, Mark Lebwohl, Angela M. Christiano et al. · Proceedings of the National Academy of Sciences · 2000 · 396 citations

Life Sciences, Genetics, Molecular Genetics +13

Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

Dessislava Markova, Yaqun Zou, Franziska Ringpfeil et al. · The American Journal of Human Genetics · 2003 · 153 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Darier disease – novel mutations in ATP2A2 and genotype–phenotype correlation

Franziska Ringpfeil, A. Raus, John J. DiGiovanna et al. · Experimental Dermatology · 2001 · 120 citations

Medicine, Dermatology, Genetics +16

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum

Leena Pulkkinen, Aoi Nakano, Franziska Ringpfeil et al. · Human Genetics · 2001 · 85 citations

Life Sciences, Genetics, Molecular Genetics +15

Pseudoxanthoma Elasticum Is a Recessive Disease Characterized by Compound Heterozygosity

Franziska Ringpfeil, Kelly McGuigan, Lauren Fuchsel et al. · Journal of Investigative Dermatology · 2006 · 84 citations · Full text

Life Sciences, Dermatology, Genetics +13