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  1. Article

    Open Access

    47 patients with FLNA associated periventricular nodular heterotopia

    Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to ini...

    Max Lange, Burkhard Kasper, Axel Bohring, Frank Rutsch… in Orphanet Journal of Rare Diseases (2015)

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  2. Article

    Open Access

    Novel genetic findings

    Axel Bohring in Head & Face Medicine (2012)

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  3. No Access

    Article

    Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

    Stephen Robertson and colleagues report that germline mutations in WTX cause an X-linked sclerosing bone dysplasia marked by increased bone density and craniofacial malformations in females and lethality in males...

    Zandra A Jenkins, Margriet van Kogelenberg, Tim Morgan, Aaron Jeffs… in Nature Genetics (2009)

  4. No Access

    Article

    Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease

    Muscle–eye–brain disease (MEB, OMIM 253280) is an autosomal recessive disorder characterized by a distinct triad of congenital muscular dystrophy, structural eye abnormalities, and cobblestone lissencephaly. C...

    Ute Hehr, Goekhan Uyanik, Claudia Gross, Maggie C. Walter, Axel Bohring… in Neurogenetics (2007)