Rath M - 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: rath m. 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: rath m. 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

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. 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.

4

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. 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

5

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: rath m. Neurogenetics. 2018 Jan;19(1):55-59. doi: 10.1007/s10048-017-0531-7. Epub 2017 Dec 2. Neurogenetics. 2018. PMID: 29197946

6

Diagnostic Single Gene Analyses Beyond Sanger.

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

7

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: rath m. 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.

8

Postzygotic mosaicism in cerebral cavernous malformation.

Rath M, Pagenstecher A, Hoischen A, Felbor U. Rath M, et al. J Med Genet. 2020 Mar;57(3):212-216. doi: 10.1136/jmedgenet-2019-106182. Epub 2019 Aug 24. J Med Genet. 2020. PMID: 31446422 Free PMC article.

9

Precise CCM1 gene correction and inactivation in patient-derived endothelial cells: Modeling Knudson's two-hit hypothesis in vitro.

Spiegler S, Rath M, Much CD, Sendtner BS, Felbor U. Spiegler S, et al. Among authors: rath m. Mol Genet Genomic Med. 2019 Jul;7(7):e00755. doi: 10.1002/mgg3.755. Epub 2019 May 23. Mol Genet Genomic Med. 2019. PMID: 31124307 Free PMC article.

10

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.

Much CD, Schwefel K, Skowronek D, Shoubash L, von Podewils F, Elbracht M, Spiegler S, Kurth I, Flöel A, Schroeder HWS, Felbor U, Rath M. Much CD, et al. Among authors: rath m. Front Neurol. 2019 Nov 20;10:1219. doi: 10.3389/fneur.2019.01219. eCollection 2019. Front Neurol. 2019. PMID: 31824402 Free PMC article.

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