Pamela Poblete‐Gutiérrez

Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept

Pamela Poblete‐Gutiérrez, T. Wiederholt, Arne König et al. · Journal of Clinical Investigation · 2004 · 147 citations · Full text

Cytogenetics, Genetics, Genetic Epidemiology +20

Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia

Carsten Bergmann, Jan Senderek, Dirk Anhuf et al. · The American Journal of Human Genetics · 2006 · 106 citations · Full text

Transcriptional Regulation, Disease Mechanism, Genetic Disorder +6

Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients

Maurice A. M. Van Steensel, Valerie L. R. M. Verstraeten, Jorge Frank et al. · Journal of Investigative Dermatology · 2006 · 85 citations · Full text

Genetic Disorder, Medicine, Genetics +8

Summary of the Dutch S3-Guidelines on the treatment of psoriasis 2011

Jeffrey Zweegers, E.M.G.J. de Jong, Tamar Nijsten et al. · Dermatology Online Journal · 2014 · 55 citations · Full text

The porphyrias: clinical presentation, diagnosis and treatment.

Pamela Poblete‐Gutiérrez, T. Wiederholt, H. Merk et al. · PubMed · 2006 · 48 citations

Parasitic Disease, Clinical Symptoms, Clinical Presentation +16