Imprinting Disorders: Novel Findings and Translation into Diagnostics and Management

medizinischegenetik 4 - 2020
Wissenschaftliche Koordination: Thomas Eggermann, Bernhard Horsthemke
Kurze Zusammenfassung
Imprinting disorders (ImpDis) are a group of human congenital diseases involving one or more genes that are expressed from only the paternal or the maternal allele. Currently é100 imprinted human genes and twelve imprinting disorders have been recognized. From a clinical point of view, imprinting disorders are a heterogeneous group of diseases, which mainly affect growth, neurodevelopment and metabolism, but there is a considerable phenotypic overlap between some disorders (e. g. the Prader- Willi, Temple and Schaaf-Yang syndromes).
Schwerpunkt Bild
Bildcollage: GfH


Imprinting disorders: novel findings and translation into diagnostics and management
Eggermann Thomas, Horsthemke Bernhard Download PDF

Basics and disturbances of genomic imprinting
Prawitt Dirk, Haaf Thomas Download PDF

Molecular testing for imprinting disorders
Beygo Jasmin, Kanber Deniz, Eggermann Thomas, Begemann Matthias Download PDF

Clinical spectrum and management of imprinting disorders
Elbracht Miriam, Binder Gerhard, Hiort Olaf, Kiewert Cordula, Kratz Christian, Eggermann Thomas Download PDF

Novel strategies to cure imprinting disorders
Horsthemke Bernhard, Zechner Ulrich Download PDF