Felbor U - Search Results

1

Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.

Spiegler S, Rath M, Paperlein C, Felbor U. Spiegler S, et al. Among authors: felbor u. Mol Syndromol. 2018 Feb;9(2):60-69. doi: 10.1159/000486292. Epub 2018 Jan 25. Mol Syndromol. 2018. PMID: 29593473 Free PMC article. Review.

2

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.

Spiegler S, Kirchmaier B, Rath M, Korenke GC, Tetzlaff F, van de Vorst M, Neveling K, Acker-Palmer A, Kuss AW, Gilissen C, Fischer A, Schulte-Merker S, Felbor U. Spiegler S, et al. Among authors: felbor u. Mol Syndromol. 2016 Jul;7(3):144-52. doi: 10.1159/000446884. Epub 2016 Jun 18. Mol Syndromol. 2016. PMID: 27587990 Free PMC article.

3

Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations.

Schröder W, Najm J, Spiegler S, Mair M, Viera J, Henn W, Felbor U. Schröder W, et al. Among authors: felbor u. Neurosurg Rev. 2014 Jan;37(1):161-5. doi: 10.1007/s10143-013-0478-6. Epub 2013 May 31. Neurosurg Rev. 2014. PMID: 23722637

4

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

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 GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U. Spiegler S, et al. Among authors: felbor u. Mol Genet Genomic Med. 2014 Mar;2(2):176-85. doi: 10.1002/mgg3.60. Epub 2014 Jan 14. Mol Genet Genomic Med. 2014. PMID: 24689081 Free PMC article.

5

Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI.

Dammann P, Wrede K, Zhu Y, Matsushige T, Maderwald S, Umutlu L, Quick HH, Hehr U, Rath M, Ladd ME, Felbor U, Sure U. Dammann P, et al. Among authors: felbor u. J Neurosurg. 2017 Feb;126(2):570-577. doi: 10.3171/2016.2.JNS152322. Epub 2016 May 6. J Neurosurg. 2017. PMID: 27153162

6

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.

Rath M, Spiegler S, Nath N, Schwefel K, Di Donato N, Gerber J, Korenke GC, Hellenbroich Y, Hehr U, Gross S, Sure U, Zoll B, Gilberg E, Kaderali L, Felbor U. Rath M, et al. Among authors: felbor u. Mol Genet Genomic Med. 2016 Dec 20;5(1):21-27. doi: 10.1002/mgg3.256. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116327 Free PMC article.

7

High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.

Rath M, Jenssen SE, Schwefel K, Spiegler S, Kleimeier D, Sperling C, Kaderali L, Felbor U. Rath M, et al. Among authors: felbor u. Eur J Med Genet. 2017 Sep;60(9):479-484. doi: 10.1016/j.ejmg.2017.06.007. Epub 2017 Jun 20. Eur J Med Genet. 2017. PMID: 28645800

8

First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.

Spiegler S, Rath M, Hoffjan S, Dammann P, Sure U, Pagenstecher A, Strom T, Felbor U. Spiegler S, et al. Among authors: felbor u. Neurogenetics. 2018 Jan;19(1):55-59. doi: 10.1007/s10048-017-0531-7. Epub 2017 Dec 2. Neurogenetics. 2018. PMID: 29197946

9

Diagnostic Single Gene Analyses Beyond Sanger.

Najm J, Rath M, Schröder W, Felbor U. Najm J, et al. Among authors: felbor u. Hamostaseologie. 2018 Aug;38(3):158-165. doi: 10.5482/HAMO-17-01-0008. Epub 2018 Sep 27. Hamostaseologie. 2018. PMID: 30261521

10

Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening.

Schwefel K, Spiegler S, Ameling S, Much CD, Pilz RA, Otto O, Völker U, Felbor U, Rath M. Schwefel K, et al. Among authors: felbor u. J Cell Mol Med. 2019 Mar;23(3):1771-1783. doi: 10.1111/jcmm.14075. Epub 2018 Dec 13. J Cell Mol Med. 2019. PMID: 30549232 Free PMC article.

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