SMARCA4-associated schwannomatosis
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| Published in | Acta neuropathologica Vol. 145; no. 4; pp. 505 - 507 |
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| Main Authors | , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Berlin/Heidelberg
Springer Berlin Heidelberg
01.04.2023
Springer Springer Nature B.V |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0001-6322 1432-0533 1432-0533 |
| DOI | 10.1007/s00401-023-02546-4 |
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| Audience | Academic |
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| Author | Siebert, Reiner Foulkes, William D. Nogué, Clara Dahlum, Sonja van Spaendonck-Zwarts, Karin Y. Chan-Pak-Choon, Fiona Lambie, Neil K. Robertson, Thomas Chong, Anne-Sophie Roca, Carla Mar Fan, Helen Austin, Rachel Rivera, Barbara |
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| CitedBy_id | crossref_primary_10_1093_noajnl_vdad127 crossref_primary_10_1097_CCO_0000000000000994 crossref_primary_10_1016_j_gim_2024_101287 crossref_primary_10_1158_1940_6207_CAPR_24_0115 |
| Cites_doi | 10.1007/s10048-012-0319-8 10.1056/NEJMc1803354 10.1053/j.semdp.2018.01.002 10.1007/s00439-016-1753-8 10.1002/ijc.32361 10.1007/s00401-021-02387-z 10.1172/JCI130206 10.18632/oncotarget.6459 10.1002/path.4926 10.1158/1078-0432.Ccr-17-0595 10.1038/s41379-019-0303-z 10.1002/mgg3.412 10.1007/s00401-020-02230-x |
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| DOI | 10.1007/s00401-023-02546-4 |
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| References | Errichiello, Mustafa, Vetro, Notarangelo, de Jonge, Rinaldi (CR4) 2017; 243 Bellini, Bessoltane-Bentahar, Bhalshankar, Clement, Raynal, Baulande (CR2) 2019; 145 Mansouri, Suppiah, Mamatjan, Paganini, Liu, Karimi (CR10) 2021; 141 Agaimy, Foulkes (CR1) 2018; 35 Nogué, Chong, Grau, Han, Dorca, Roca (CR11) 2022; 143 Smith, Wallace, Bowers, Rustad, Woods, Leschziner (CR13) 2012; 13 Foulkes, Kamihara, Evans, Brugières, Bourdeaut, Molenaar (CR6) 2017; 23 de Kock, Fahiminiya, Fiset, Astigarraga, Nguyen, Albrecht (CR3) 2018; 378 Kehrer-Sawatzki, Farschtschi, Mautner, Cooper (CR7) 2017; 136 Kehrer-Sawatzki, Kordes, Seiffert, Summerer, Hagel, Schüller (CR8) 2018; 6 Rivera, Nadaf, Fahiminiya, Apellaniz-Ruiz, Saskin, Chong (CR12) 2020; 130 Lin, Allen, Hecht, Killian, Ngo, Edgerly (CR9) 2019; 32 Fahiminiya, Witkowski, Nadaf, Carrot-Zhang, Goudie, Hasselblatt (CR5) 2016; 7 WD Foulkes (2546_CR6) 2017; 23 H Kehrer-Sawatzki (2546_CR8) 2018; 6 DI Lin (2546_CR9) 2019; 32 MJ Smith (2546_CR13) 2012; 13 S Fahiminiya (2546_CR5) 2016; 7 L de Kock (2546_CR3) 2018; 378 C Nogué (2546_CR11) 2022; 143 B Rivera (2546_CR12) 2020; 130 A Agaimy (2546_CR1) 2018; 35 A Bellini (2546_CR2) 2019; 145 S Mansouri (2546_CR10) 2021; 141 H Kehrer-Sawatzki (2546_CR7) 2017; 136 E Errichiello (2546_CR4) 2017; 243 |
| References_xml | – volume: 13 start-page: 141 issue: 2 year: 2012 end-page: 145 ident: CR13 article-title: Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis publication-title: Neurogenetics doi: 10.1007/s10048-012-0319-8 – volume: 378 start-page: 2238 issue: 23 year: 2018 end-page: 2240 ident: CR3 article-title: Infantile pulmonary teratoid tumor publication-title: N Engl J Med doi: 10.1056/NEJMc1803354 – volume: 35 start-page: 193 issue: 3 year: 2018 end-page: 198 ident: CR1 article-title: Hereditary SWI/SNF complex deficiency syndromes publication-title: Semin Diagn Pathol doi: 10.1053/j.semdp.2018.01.002 – volume: 136 start-page: 129 issue: 2 year: 2017 end-page: 148 ident: CR7 article-title: The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis publication-title: Hum Genet doi: 10.1007/s00439-016-1753-8 – volume: 145 start-page: 2781 issue: 10 year: 2019 end-page: 2791 ident: CR2 article-title: Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma publication-title: Int J Cancer doi: 10.1002/ijc.32361 – volume: 143 start-page: 115 issue: 1 year: 2022 end-page: 117 ident: CR11 article-title: DGCR8 and the six hit, three-step model of schwannomatosis publication-title: Acta Neuropathol doi: 10.1007/s00401-021-02387-z – volume: 130 start-page: 1479 issue: 3 year: 2020 end-page: 1490 ident: CR12 article-title: DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis publication-title: J Clin Invest doi: 10.1172/JCI130206 – volume: 7 start-page: 1732 issue: 2 year: 2016 end-page: 1740 ident: CR5 article-title: Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor publication-title: Oncotarget doi: 10.18632/oncotarget.6459 – volume: 243 start-page: 9 issue: 1 year: 2017 end-page: 15 ident: CR4 article-title: SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type publication-title: J Pathol doi: 10.1002/path.4926 – volume: 23 start-page: e62 issue: 12 year: 2017 end-page: e67 ident: CR6 article-title: Cancer surveillance in gorlin syndrome and rhabdoid tumor predisposition syndrome publication-title: Clin Cancer Res doi: 10.1158/1078-0432.Ccr-17-0595 – volume: 32 start-page: 1675 issue: 11 year: 2019 end-page: 1687 ident: CR9 article-title: SMARCA4 inactivation defines a subset of undifferentiated uterine sarcomas with rhabdoid and small cell features and germline mutation association publication-title: Mod Pathol doi: 10.1038/s41379-019-0303-z – volume: 6 start-page: 627 issue: 4 year: 2018 end-page: 637 ident: CR8 article-title: Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1 publication-title: Mol Genet Genomic Med doi: 10.1002/mgg3.412 – volume: 141 start-page: 101 issue: 1 year: 2021 end-page: 116 ident: CR10 article-title: Epigenomic, genomic, and transcriptomic landscape of schwannomatosis publication-title: Acta Neuropathol doi: 10.1007/s00401-020-02230-x – volume: 145 start-page: 2781 issue: 10 year: 2019 ident: 2546_CR2 publication-title: Int J Cancer doi: 10.1002/ijc.32361 – volume: 136 start-page: 129 issue: 2 year: 2017 ident: 2546_CR7 publication-title: Hum Genet doi: 10.1007/s00439-016-1753-8 – volume: 32 start-page: 1675 issue: 11 year: 2019 ident: 2546_CR9 publication-title: Mod Pathol doi: 10.1038/s41379-019-0303-z – volume: 35 start-page: 193 issue: 3 year: 2018 ident: 2546_CR1 publication-title: Semin Diagn Pathol doi: 10.1053/j.semdp.2018.01.002 – volume: 141 start-page: 101 issue: 1 year: 2021 ident: 2546_CR10 publication-title: Acta Neuropathol doi: 10.1007/s00401-020-02230-x – volume: 378 start-page: 2238 issue: 23 year: 2018 ident: 2546_CR3 publication-title: N Engl J Med doi: 10.1056/NEJMc1803354 – volume: 143 start-page: 115 issue: 1 year: 2022 ident: 2546_CR11 publication-title: Acta Neuropathol doi: 10.1007/s00401-021-02387-z – volume: 130 start-page: 1479 issue: 3 year: 2020 ident: 2546_CR12 publication-title: J Clin Invest doi: 10.1172/JCI130206 – volume: 13 start-page: 141 issue: 2 year: 2012 ident: 2546_CR13 publication-title: Neurogenetics doi: 10.1007/s10048-012-0319-8 – volume: 23 start-page: e62 issue: 12 year: 2017 ident: 2546_CR6 publication-title: Clin Cancer Res doi: 10.1158/1078-0432.Ccr-17-0595 – volume: 6 start-page: 627 issue: 4 year: 2018 ident: 2546_CR8 publication-title: Mol Genet Genomic Med doi: 10.1002/mgg3.412 – volume: 243 start-page: 9 issue: 1 year: 2017 ident: 2546_CR4 publication-title: J Pathol doi: 10.1002/path.4926 – volume: 7 start-page: 1732 issue: 2 year: 2016 ident: 2546_CR5 publication-title: Oncotarget doi: 10.18632/oncotarget.6459 |
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| SubjectTerms | Chromosomes Correspondence DNA Helicases - genetics DNA methylation Genes Genetics Hospitals Humans Laboratories Medicine Medicine & Public Health Neurilemmoma - genetics Neurofibromatoses - genetics Neurosciences Nuclear Proteins Pathology Retention Skin Neoplasms - genetics Transcription Factors Tumors |
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| Title | SMARCA4-associated schwannomatosis |
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