130 related articles for article (PubMed ID: 34231212)
1. Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
Sabatella M; Mantere T; Waanders E; Neveling K; Mensenkamp AR; van Dijk F; Hehir-Kwa JY; Derks R; Kwint M; O'Gorman L; Tropa Martins M; Gidding CE; Lequin MH; Küsters B; Wesseling P; Nelen M; Biegel JA; Hoischen A; Jongmans MC; Kuiper RP
J Pathol; 2021 Oct; 255(2):202-211. PubMed ID: 34231212
[TBL] [Abstract][Full Text] [Related]
2. Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.
Blackburn PR; McGee RB; Mostafavi R; Carroll AJ; Mikhail FM; Armstrong GT; Furtado LV; Chiang J; Wheeler DA; Carey SS; Nichols KE; Upadhyaya SA
Genes Chromosomes Cancer; 2024 Jan; 63(1):e23195. PubMed ID: 37548271
[TBL] [Abstract][Full Text] [Related]
3. Atypical teratoid/rhabdoid tumour-TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition.
Lee JC; Tran QT; McGee RB; Perrino MR; Upadhyaya SA; Hanzlik EM; Pytel N; Carroll AJ; Orisme W; Eldomery M; Wang L; Blackburn PR; Furtado LV; Viaene AN; Luo M; Kalish JM; Pinto SN; Bag AK; Orr BA
Neuropathol Appl Neurobiol; 2024 Apr; 50(2):e12971. PubMed ID: 38488196
[No Abstract] [Full Text] [Related]
4. Subclassification of epithelioid sarcoma with potential therapeutic impact.
Haefliger S; Chervova O; Davies C; Nottley S; Hargreaves S; Sumathi VP; Amary F; Tirabosco R; Pillay N; Beck S; Flanagan AM; Lyskjaer I
J Pathol; 2023 Aug; 260(4):368-375. PubMed ID: 37316954
[TBL] [Abstract][Full Text] [Related]
5. An adult with recurrent atypical teratoid rhabdoid tumor of the spine.
Charles AJ; Smith VL; Goodwin CR; Johnson MO
CNS Oncol; 2024 Jan; 13(1):CNS105. PubMed ID: 38380555
[TBL] [Abstract][Full Text] [Related]
6. Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.
Kehrer-Sawatzki H; Kordes U; Seiffert S; Summerer A; Hagel C; Schüller U; Farschtschi S; Schneppenheim R; Bendszus M; Godel T; Mautner VF
Mol Genet Genomic Med; 2018 May; 6(4):627-37. PubMed ID: 29779243
[TBL] [Abstract][Full Text] [Related]
7. Imaging and multi-omics datasets converge to define different neural progenitor origins for ATRT-SHH subgroups.
Lobón-Iglesias MJ; Andrianteranagna M; Han ZY; Chauvin C; Masliah-Planchon J; Manriquez V; Tauziede-Espariat A; Turczynski S; Bouarich-Bourimi R; Frah M; Dufour C; Blauwblomme T; Cardoen L; Pierron G; Maillot L; Guillemot D; Reynaud S; Bourneix C; Pouponnot C; Surdez D; Bohec M; Baulande S; Delattre O; Piaggio E; Ayrault O; Waterfall JJ; Servant N; Beccaria K; Dangouloff-Ros V; Bourdeaut F
Nat Commun; 2023 Oct; 14(1):6669. PubMed ID: 37863903
[TBL] [Abstract][Full Text] [Related]
8. Haplotype-resolved germline and somatic alterations in renal medullary carcinomas.
Tan KT; Kim H; Carrot-Zhang J; Zhang Y; Kim WJ; Kugener G; Wala JA; Howard TP; Chi YY; Beroukhim R; Li H; Ha G; Alper SL; Perlman EJ; Mullen EA; Hahn WC; Meyerson M; Hong AL
Genome Med; 2021 Jul; 13(1):114. PubMed ID: 34261517
[TBL] [Abstract][Full Text] [Related]
9. Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Del Gobbo GF; Wang X; Couse M; Mackay L; Goldsmith C; Marshall AE; Liang Y; Lambert C; Zhang S; Dhillon H; Fanslow C; Rowell WJ; ; Marshall CR; Kernohan KD; Boycott KM
Am J Med Genet A; 2024 May; 194(5):e63522. PubMed ID: 38131126
[TBL] [Abstract][Full Text] [Related]
10. Optical genome mapping identifies structural variants in potentially new cancer predisposition candidate genes in pediatric cancer patients.
Wagener R; Brandes D; Jung M; Huetzen MA; Bergmann AK; Panier S; Picard D; Fischer U; Jachimowicz RD; Borkhardt A; Brozou T
Int J Cancer; 2024 Feb; 154(4):607-614. PubMed ID: 37776287
[TBL] [Abstract][Full Text] [Related]
11. TRIM28 inactivation in epithelial nephroblastoma is frequent and often associated with predisposing TRIM28 germline variants.
Wegert J; Fischer AK; Palhazi B; Treger TD; Hilgers C; Ziegler B; Jung H; Jüttner E; Waha A; Fuchs J; Warmann SW; Frühwald MC; Hubertus J; Pritchard-Jones K; Graf N; Behjati S; Furtwängler R; Gessler M; Vokuhl C
J Pathol; 2024 Jan; 262(1):10-21. PubMed ID: 37792584
[TBL] [Abstract][Full Text] [Related]
12. Whole-exome sequencing identifies germline mutation in
Nordfors K; Haapasalo J; Afyounian E; Tuominen J; Annala M; Häyrynen S; Karhu R; Helén P; Lohi O; Nykter M; Haapasalo H; Granberg KJ
Cold Spring Harb Mol Case Stud; 2018 Apr; 4(2):. PubMed ID: 29602769
[TBL] [Abstract][Full Text] [Related]
13. Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing.
Helman E; Lawrence MS; Stewart C; Sougnez C; Getz G; Meyerson M
Genome Res; 2014 Jul; 24(7):1053-63. PubMed ID: 24823667
[TBL] [Abstract][Full Text] [Related]
14. A SINE-VNTR-Alu at the LRIG2 locus is associated with proximal and distal gene expression in CRISPR and population models.
Hall A; Middlehurst B; Cadogan MAM; Reed X; Billingsley KJ; Bubb VJ; Quinn JP
Sci Rep; 2024 Jan; 14(1):792. PubMed ID: 38191889
[TBL] [Abstract][Full Text] [Related]
15. Concurrent
El-Ayadi M; Egervari K; Merkler D; McKee TA; Gumy-Pause F; Stichel D; Capper D; Pietsch T; Ansari M; von Bueren AO
Front Neurol; 2018; 9():398. PubMed ID: 29971034
[TBL] [Abstract][Full Text] [Related]
16. CRISPR deletion of a SINE-VNTR-
Fröhlich A; Hughes LS; Middlehurst B; Pfaff AL; Bubb VJ; Koks S; Quinn JP
Front Neurol; 2023; 14():1273036. PubMed ID: 37840928
[TBL] [Abstract][Full Text] [Related]
17. Contribution of
Chu C; Ljungström V; Tran A; Jin H; Park PJ
medRxiv; 2024 Apr; ():. PubMed ID: 38699361
[TBL] [Abstract][Full Text] [Related]
18. Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.
Birkeälv S; Harland M; Matsuyama LSAS; Rashid M; Mehta I; Laye JP; Haase K; Mell T; Iyer V; Robles-Espinoza CD; McDermott U; van Loo P; Kuijjer ML; Possik PA; Maria Engler SS; Bishop DT; Newton-Bishop J; Adams DJ
J Pathol; 2023 Jan; 259(1):56-68. PubMed ID: 36219477
[TBL] [Abstract][Full Text] [Related]
19. Rare germline structural variants increase risk for pediatric solid tumors.
Gillani R; Collins RL; Crowdis J; Garza A; Jones JK; Walker M; Sanchis-Juan A; Whelan C; Pierce-Hoffman E; Talkowski M; Brand H; Haigis K; LoPiccolo J; AlDubayan SH; Gusev A; Crompton BD; Janeway KA; Van Allen EM
bioRxiv; 2024 Apr; ():. PubMed ID: 38746320
[TBL] [Abstract][Full Text] [Related]
20. Advancing drug discovery using the power of the human genome.
Heilbron K; Mozaffari SV; Vacic V; Yue P; Wang W; Shi J; Jubb AM; Pitts SJ; Wang X
J Pathol; 2021 Jul; 254(4):418-429. PubMed ID: 33748968
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]