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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2010 | 1 |
2013 | 1 |
2014 | 1 |
2020 | 1 |
2021 | 1 |
2024 | 0 |
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Page 1
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
Am J Hum Genet. 2010 Feb 12;86(2):279-84. doi: 10.1016/j.ajhg.2010.01.013. Epub 2010 Feb 4.
Am J Hum Genet. 2010.
PMID: 20137775
Free PMC article.
Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.
Witkowski L, Lalonde E, Zhang J, Albrecht S, Hamel N, Cavallone L, May ST, Nicholson JC, Coleman N, Murray MJ, Tauber PF, Huntsman DG, Schönberger S, Yandell D, Hasselblatt M, Tischkowitz MD, Majewski J, Foulkes WD.
Witkowski L, et al.
J Pathol. 2013 Sep;231(1):35-43. doi: 10.1002/path.4225.
J Pathol. 2013.
PMID: 23775540
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SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis.
Hasselblatt M, Nagel I, Oyen F, Bartelheim K, Russell RB, Schüller U, Junckerstorff R, Rosenblum M, Alassiri AH, Rossi S, Schmid I, Gottardo NG, Toledano H, Viscardi E, Balbin M, Witkowski L, Lu Q, Betts MJ, Foulkes WD, Siebert R, Frühwald MC, Schneppenheim R.
Hasselblatt M, et al.
Acta Neuropathol. 2014 Sep;128(3):453-6. doi: 10.1007/s00401-014-1323-x. Epub 2014 Jul 25.
Acta Neuropathol. 2014.
PMID: 25060813
No abstract available.
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Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous SMARCA4 Deletion Detected by High-Resolution aCGH.
Mitrakos A, Lazaros L, Pantou A, Mavrou A, Kanavakis E, Tzetis M.
Mitrakos A, et al.
Mol Syndromol. 2020 Jul;11(3):141-145. doi: 10.1159/000508563. Epub 2020 Jun 13.
Mol Syndromol. 2020.
PMID: 32903985
Free PMC article.
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Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review.
Pastorczak A, Krajewska K, Urbanska Z, Szmyd B, Salacinska-Los E, Kobos J, Mlynarski W, Trelinska J.
Pastorczak A, et al.
Fam Cancer. 2021 Oct;20(4):355-362. doi: 10.1007/s10689-021-00258-w. Epub 2021 Apr 28.
Fam Cancer. 2021.
PMID: 33907931
Free PMC article.
Review.
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