Publications:

Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology

Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,

Publication Date: 2022-09-17

Variant appearance in text: TTN: 68576C>T; Thr22859Ile

PubMed Link: 36124685

Variant Present in the following documents:

• noac220_suppl_supplementary_table_s3.xlsx, sheet 1

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A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.

Intractable & Rare Diseases Research

Algahtani, Hussein H; Shirah, Bader B; Algahtani, Raghad R; Al-Qahtani, Mohammad H MH; Abdulkareem, Angham Abdulrahman AA; Naseer, Muhammad Imran MI

Publication Date: 2019-05

Variant appearance in text: TTN: 68576C>T

PubMed Link: 31218166

Variant Present in the following documents:

• Main text

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Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Acta Neuropathologica

Vasli, Nasim N; Böhm, Johann J; Le Gras, Stéphanie S; Muller, Jean J; Pizot, Cécile C; Jost, Bernard B; Echaniz-Laguna, Andoni A; Laugel, Vincent V; Tranchant, Christine C; Bernard, Rafaelle R; Plewniak, Frédéric F; Vicaire, Serge S; Levy, Nicolas N; Chelly, Jamel J; Mandel, Jean-Louis JL; Biancalana, Valérie V; Laporte, Jocelyn J

Publication Date: 2012-08

Variant appearance in text: TTN: 68576C>T

PubMed Link: 22526018

Variant Present in the following documents:

• Main text
• 401_2012_982_MOESM4_ESM.pdf
• 401_2012_982_MOESM1_ESM.pdf

View BVdb publication page