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Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.
Bauwens M, De Man V, Audo I, Balikova I, Zein WM, Smirnov V, Held S, Vermeer S, Loos E, Jacob J, Casteels I, Désir J, Depasse F, Van de Sompele S, Van Heetvelde M, De Bruyne M, Andrieu C, Condroyer C, Antonio A, Hufnagel R, Carvalho AL, Marques JP, Zeitz C, De Baere E, Damme M. Bauwens M, et al. Among authors: held s. Clin Genet. 2025 Jan;107(1):44-55. doi: 10.1111/cge.14614. Epub 2024 Aug 28. Clin Genet. 2025. PMID: 39199020 Free PMC article.
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Velde HM, Reurink J, Held S, Li CHZ, Yzer S, Oostrik J, Weeda J, Haer-Wigman L, Yntema HG, Roosing S, Pauleikhoff L, Lange C, Whelan L, Dockery A, Zhu J, Keegan DJ, Farrar GJ, Kremer H, Lanting CP, Damme M, Pennings RJE. Velde HM, et al. Among authors: held s. Hum Genet. 2022 Nov;141(11):1723-1738. doi: 10.1007/s00439-022-02441-0. Epub 2022 Feb 28. Hum Genet. 2022. PMID: 35226187 Free PMC article.
Physiological shedding and C-terminal proteolytic processing of TMEM106B.
Held S, Erck C, Kemppainen S, Bleibaum F, Giridhar NJ, Feederle R, Krenner C, Juopperi SP, Calliari A, Mentrup T, Schröder B, Dickson DW, Rauramaa T, Petrucelli L, Prudencio M, Hiltunen M, Lüningschrör P, Capell A, Damme M. Held S, et al. Cell Rep. 2024 Dec 21;44(1):115107. doi: 10.1016/j.celrep.2024.115107. Online ahead of print. Cell Rep. 2024. PMID: 39709600 Free article.
Evaluation of circulating tumor DNA as a prognostic and predictive biomarker in BRAF V600E mutated colorectal cancer-results from the FIRE-4.5 study.
Klein-Scory S, Baraniskin A, Schmiegel W, Mika T, Schroers R, Held S, Heinrich K, Tougeron D, Modest DP, Schwaner I, Eucker J, Pihusch R, Stauch M, Kaiser F, Kahl C, Karthaus M, Müller C, Burkart C, Stintzing S, Heinemann V. Klein-Scory S, et al. Among authors: held s. Mol Oncol. 2024 Dec 4. doi: 10.1002/1878-0261.13778. Online ahead of print. Mol Oncol. 2024. PMID: 39630848 Free article.
Corrigendum to "Prognostic and predictive value of CA 19-9 inlocally advanced pancreatic cancer treated with multiagent induction chemotherapy: results from a prospective, multicenter phase II trial (NEOLAP-AIO-PAK-0113)": [ESMO Open 7 (2024) 100552].
Hartlapp I, Valta-Seufzer D, Siveke JT, Algül H, Goekkurt E, Siegler G, Martens UM, Waldschmidt D, Pelzer U, Fuchs M, Kullmann F, Boeck S, Ettrich TJ, Held S, Keller R, Anger F, Germer CT, Stang A, Kimmel B, Heinemann V, Kunzmann V; German Pancreatic Cancer Group (AIO-PAK) and NEOLAP investigators. Hartlapp I, et al. Among authors: held s. ESMO Open. 2024 Oct;9(10):103705. doi: 10.1016/j.esmoop.2024.103705. Epub 2024 Aug 29. ESMO Open. 2024. PMID: 39461776 Free PMC article. No abstract available.
255 results