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Syndrome mit breitem Tumorspektrum

Die klinische Diagnose erblicher Tumorsyndrome ist ein wesentlicher Bestandteil der humangenetischen Beratung. Bei seltenen Syndromen, die mit einem breiten Spektrum an Tumoren und phänotypischen Überschneidungen einhergehen, ist dies nicht immer einfach. In diesem Artikel sollen deshalb die typischen und wegweisenden Merkmale der wichtigsten seltenen Tumordispositionssyndrome...

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren’s Disease

Dupuytren´s disease, a fibromatosis of the connective tissue in the palm, is a common complex disease with a strong genetic component. Up to date nine genetic loci have been found to be associated with the disease. Six of these loci contain genes that code for Wnt signalling proteins. In spite of this striking first insight into the genetic factors in Dupuytren´s disease, much of...

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer

Karin Kast 0 Teresa M Neuhann Heike Grgens Kerstin Becker Katja Keller 0 Barbara Klink Daniela Aust Wolfgang Distler 0 Evelin Schrck Hans K Schackert 0 Department of Gynecology and Obstetrics ... . Katja Keller, Kerstin Becker and Barbara Klink were involved in data acquisition and communication with the patients. Daniela Aust and Heike Grgens were fundamental for the analysis and interpretation of

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

Francoise Boidein Benedicte Duban-Bedu Bruno Delobel Joris Andrieux Kerstin Becker Elke Holinski-Feder Sau Wai Cheung 0 Pawel Stankiewicz 0 1 0 Department of Molecular and Human Genetics, Baylor College of