Skowronek D - Search Results

1

Novel postzygotic RASA1 mutation in a patient with Parkes Weber syndrome: A case report and literature review.

Pilz RA, Skowronek D, Ehresmann T, Felbor U, Rath M. Pilz RA, et al. Among authors: skowronek d. Clin Case Rep. 2024 Nov 3;12(11):e9543. doi: 10.1002/ccr3.9543. eCollection 2024 Nov. Clin Case Rep. 2024. PMID: 39498435 Free PMC article.

2

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.

Baumann A, Ruckert C, Meier C, Hutschenreiter T, Remy R, Schnur B, Döbel M, Fankep RCN, Skowronek D, Kutz O, Arnold N, Katzke AL, Forster M, Kobiela AL, Thiedig K, Zimmer A, Ritter J, Weber BHF, Honisch E, Hackmann K; Bioinformatics Working Group of the German Consortium for Hereditary Breast & Ovarian Cancer; Schmidt G, Sturm M, Ernst C. Baumann A, et al. Among authors: skowronek d. Eur J Hum Genet. 2024 Aug;32(8):987-997. doi: 10.1038/s41431-024-01647-2. Epub 2024 Jun 21. Eur J Hum Genet. 2024. PMID: 38907004 Free PMC article.

3

Endothelial Differentiation of CCM1 Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature.

Pilz RA, Skowronek D, Mellinger L, Bekeschus S, Felbor U, Rath M. Pilz RA, et al. Among authors: skowronek d. Int J Mol Sci. 2023 Feb 16;24(4):3993. doi: 10.3390/ijms24043993. Int J Mol Sci. 2023. PMID: 36835400 Free PMC article.

4

Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes.

Skowronek D, Pilz RA, Bonde L, Schamuhn OJ, Feldmann JL, Hoffjan S, Much CD, Felbor U, Rath M. Skowronek D, et al. Int J Mol Sci. 2022 Dec 9;23(24):15639. doi: 10.3390/ijms232415639. Int J Mol Sci. 2022. PMID: 36555281 Free PMC article.

5

Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion.

Pilz RA, Skowronek D, Hamed M, Weise A, Mangold E, Radbruch A, Pietsch T, Felbor U, Rath M. Pilz RA, et al. Among authors: skowronek d. Front Mol Biosci. 2022 Aug 25;9:953048. doi: 10.3389/fmolb.2022.953048. eCollection 2022. Front Mol Biosci. 2022. PMID: 36090026 Free PMC article.

6

Contact-dependent signaling triggers tumor-like proliferation of CCM3 knockout endothelial cells in co-culture with wild-type cells.

Rath M, Schwefel K, Malinverno M, Skowronek D, Leopoldi A, Pilz RA, Biedenweg D, Bekeschus S, Penninger JM, Dejana E, Felbor U. Rath M, et al. Among authors: skowronek d. Cell Mol Life Sci. 2022 Jun 4;79(6):340. doi: 10.1007/s00018-022-04355-6. Cell Mol Life Sci. 2022. PMID: 35661927 Free PMC article.

7

Bringing CCM into a dish: cell culture models for cerebral cavernous malformations.

Skowronek D, Pilz RA, Schwefel K, Much CD, Felbor U, Rath M. Skowronek D, et al. Med Genet. 2021 Dec 3;33(3):251-259. doi: 10.1515/medgen-2021-2091. eCollection 2021 Sep. Med Genet. 2021. PMID: 38835694 Free PMC article.

8

Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations.

Skowronek D, Hebebrand M, Erber R, Agaimy A, Zweier C, Felbor U, Rath M. Skowronek D, et al. Eur J Dermatol. 2020 Apr 1;30(2):179-181. doi: 10.1684/ejd.2020.3716. Eur J Dermatol. 2020. PMID: 32538359 No abstract available.

9

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: skowronek d. 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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