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Your search keyword '"Chong, Anne-Sophie"' showing total 5 results
Start Over Author "Chong, Anne-Sophie" Journal acta neuropathologica
5 results on '"Chong, Anne-Sophie"'

1. SMARCA4-associated schwannomatosis

Author

Chan-Pak-Choon, Fiona, primary, Roca, Carla, additional, Chong, Anne-Sophie, additional, Nogué, Clara, additional, Dahlum, Sonja, additional, Austin, Rachel, additional, Mar Fan, Helen, additional, van Spaendonck-Zwarts, Karin Y., additional, Lambie, Neil K., additional, Robertson, Thomas, additional, Siebert, Reiner, additional, Rivera, Barbara, additional, and Foulkes, William D., additional

Published
2023
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2. DGCR8 and the six hit, three-step model of schwannomatosis

Author

Nogué, Clara, primary, Chong, Anne-Sophie, additional, Grau, Elia, additional, Han, HyeRim, additional, Dorca, Eduard, additional, Roca, Carla, additional, Mosquera, Jose Luis, additional, Lázaro, Conxi, additional, Foulkes, William D., additional, Brunet, Joan, additional, and Rivera, Barbara, additional

Published
2021
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4. Molecular characterization of DICER1-mutated pituitary blastoma

Author

Nadaf, Javad, primary, de Kock, Leanne, additional, Chong, Anne-Sophie, additional, Korbonits, Márta, additional, Thorner, Paul, additional, Benlimame, Naciba, additional, Fu, Lili, additional, Peet, Andrew, additional, Warner, Justin, additional, Ploner, Oswald, additional, Shuangshoti, Shanop, additional, Albrecht, Steffen, additional, Hamel, Nancy, additional, Priest, John R., additional, Rivera, Barbara, additional, Ragoussis, Jiannis, additional, and Foulkes, William D., additional

Published
2021
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5. DGCR8 and the six hit, three-step model of schwannomatosis.

Author

Nogué, Clara, Chong, Anne-Sophie, Grau, Elia, Han, HyeRim, Dorca, Eduard, Roca, Carla, Mosquera, Jose Luis, Lázaro, Conxi, Foulkes, William D., Brunet, Joan, and Rivera, Barbara

Subjects
*SOMATIC mutation, *22Q11 deletion syndrome, *TUMOR suppressor genes, *DIGEORGE syndrome, *DNA analysis
Abstract

Following this pattern, most of the I LZTR1/SMARCB1 i -schwannomas acquire a somatic loss of Chrm22 (thus, deleting the three genes) and a somatic mutation affecting the remaining wild-type I NF2 i copy on the GPV allele. As described for I LZTR1 i [[2]], in the I DGCR8 i path to schwannomatosis, the required loss of I NF2 i and the structure of Chrm22 would result in a complete loss of both I DGCR8 i alleles, which is likely incompatible with tumor formation in this cell type. In total, while all tumors had at least one alteration of I NF2 i , four tumors had no somatic mutations on the retained (not deleted) allele (30.8%). [Extracted from the article]

Published
2022
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