Isabella Wimplinger

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (2008)

Najm, Juliane, Horn, Denise, Wimplinger, Isabella, Golden, Jeffrey A, Chizhikov, Victor V, Sudi, Jyotsna, ...

CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a...

Molekulargenetische Charakterisierung von Patienten mit dem MLS-Syndrom : Identifizierung des ursächlichen Krankheitsgens (2007)

Wimplinger, Isabella

Das MIDAS-(Mikrophthalmie, dermale Aplasie, Sklerocornea) oder MLS-(microphthalmia with linear skin defects) Syndrom ist durch uni-/bilaterale Mikrophthalmie, Sklerocornea und lineare Hautdefekte...

Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

Wimplinger, Isabella, Morleo, Manuela, Rosenberger, Georg, Iaconis, Daniela, Orth, Ulrike, Meinecke, Peter, ...

The microphthalmia with linear skin defects syndrome (MLS, or MIDAS) is an X-linked dominant male-lethal disorder almost invariably associated with segmental monosomy of the Xp22 region. In two...