Publication: High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors
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Spiegler, S., Najm, J., Liu, J., Gkalympoudis, S., Schröder, W., Borck, G., Brockmann, K., Elbracht, M., Fauth, C., Ferbert, A., Freudenberg, L., Grasshoff, U., Hellenbroich, Y., Henn, W., Hoffjan, S., Hüning, I., Korenke, G. C., Kroisel, P. M., Kunstmann, E., … Felbor, U. (2014). High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors. Molecular Genetics & Genomic Medicine, 2(2), 176–185. https://doi.org/10.1002/mgg3.60
Abstract
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Abstract
Cerebral cavernous malformations (CCM) are prevalent vascular malformations occurring in familial autosomal dominantly inherited or isolated forms. Once CCM are diagnosed by magnetic resonance imaging, the indication for genetic testing requires either a positive family history of cavernous lesions or clinical symptoms such as chronic headaches, epilepsy, neurological deficits, and hemorrhagic stroke or the occurrence of multiple lesions in an isolated case. Following these inclusion criteria, the mutation detection rates in a consecu
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- Spiegler, Stefanie
- Najm, Juliane
- Liu, Jian
- Gkalympoudis, Stephanie
- Schröder, Winnie
- Borck, Guntram
- Brockmann, Knut
- Elbracht, Miriam
- Fauth, Christine
- Ferbert, Andreas
- Freudenberg, Leonie
- Grasshoff, Ute
- Hellenbroich, Yorck
- Henn, Wolfram
- Hoffjan, Sabine
- Hüning, Irina
- Korenke, G Christoph
- Kroisel, Peter M
- Kunstmann, Erdmute
- Mair, Martina
- Munk-Schulenburg, Susanne
- Nikoubashman, Omid
- Pauli, Silke
- Rudnik-Schöneborn, Sabine
- Sudholt, Irene
- Sure, Ulrich
- Tinschert, Sigrid
- Wiednig, Michaela
- Zoll, Barbara
- Ginsberg, Mark H
- Felbor, Ute
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Spiegler, S., Najm, J., Liu, J., Gkalympoudis, S., Schröder, W., Borck, G., Brockmann, K., Elbracht, M., Fauth, C., Ferbert, A., Freudenberg, L., Grasshoff, U., Hellenbroich, Y., Henn, W., Hoffjan, S., Hüning, I., Korenke, G. C., Kroisel, P. M., Kunstmann, E., … Felbor, U. (2014). High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors. Molecular Genetics & Genomic Medicine, 2(2), 176–185. https://doi.org/10.1002/mgg3.60
