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Items: 1 to 20 of 294

1.

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.

J Pathol. 2013 Sep;231(1):35-43. doi: 10.1002/path.4225.

PMID:
23775540
2.

Ovarian small cell carcinoma of hypercalcemic type - evidence of germline origin and SMARCA4 gene inactivation. a pilot study.

Kupryjańczyk J, Dansonka-Mieszkowska A, Moes-Sosnowska J, Plisiecka-Hałasa J, Szafron L, Podgórska A, Rzepecka IK, Konopka B, Budziłowska A, Rembiszewska A, Grajkowska W, Spiewankiewicz B.

Pol J Pathol. 2013 Dec;64(4):238-46.

3.

No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour.

Foulkes WD, Clarke BA, Hasselblatt M, Majewski J, Albrecht S, McCluggage WG.

J Pathol. 2014 Jul;233(3):209-14. doi: 10.1002/path.4362. Epub 2014 May 20.

PMID:
24752781
4.

Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor.

Fahiminiya S, Witkowski L, Nadaf J, Carrot-Zhang J, Goudie C, Hasselblatt M, Johann P, Kool M, Lee RS, Gayden T, Roberts CW, Biegel JA, Jabado N, Majewski J, Foulkes WD.

Oncotarget. 2016 Jan 12;7(2):1732-40. doi: 10.18632/oncotarget.6459.

5.

Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

Schneppenheim R, Frühwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R.

Am J Hum Genet. 2010 Feb 12;86(2):279-84. doi: 10.1016/j.ajhg.2010.01.013. Epub 2010 Feb 4.

6.

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD.

Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23.

PMID:
24658002
7.

SMARCA4-Mutated Atypical Teratoid/Rhabdoid Tumor with Retained BRG1 Expression.

Masliah-Planchon J, Machet MC, Fréneaux P, Jourdain A, Mortemousque I, Raïs KA, Ballet S, Jouvet A, Figarella-Branger D, Delattre O, Bourdeaut F.

Pediatr Blood Cancer. 2016 Mar;63(3):568-9. doi: 10.1002/pbc.25772. Epub 2015 Oct 15. No abstract available.

PMID:
26469284
8.

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.

Acta Neuropathol. 2014 Sep;128(3):453-6. doi: 10.1007/s00401-014-1323-x. Epub 2014 Jul 25. No abstract available.

PMID:
25060813
9.

Rhabdoid tumor predisposition syndrome.

Sredni ST, Tomita T.

Pediatr Dev Pathol. 2015 Jan-Feb;18(1):49-58. doi: 10.2350/14-07-1531-MISC.1. Epub 2014 Dec 10.

PMID:
25494491
10.

Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (Malignant Rhabdoid Tumor of the Ovary): A Review with Recent Developments on Pathogenesis.

Witkowski L, Goudie C, Foulkes WD, McCluggage WG.

Surg Pathol Clin. 2016 Jun;9(2):215-26. doi: 10.1016/j.path.2016.01.005. Epub 2016 Apr 12. Review.

PMID:
27241105
11.

Dual loss of the SWI/SNF complex ATPases SMARCA4/BRG1 and SMARCA2/BRM is highly sensitive and specific for small cell carcinoma of the ovary, hypercalcaemic type.

Karnezis AN, Wang Y, Ramos P, Hendricks WP, Oliva E, D'Angelo E, Prat J, Nucci MR, Nielsen TO, Chow C, Leung S, Kommoss F, Kommoss S, Silva A, Ronnett BM, Rabban JT, Bowtell DD, Weissman BE, Trent JM, Gilks CB, Huntsman DG.

J Pathol. 2016 Feb;238(3):389-400. doi: 10.1002/path.4633. Epub 2015 Dec 21.

12.

Immunohistochemical expression of embryonic stem cell markers in malignant rhabdoid tumors.

Deisch J, Raisanen J, Rakheja D.

Pediatr Dev Pathol. 2011 Sep-Oct;14(5):353-9. doi: 10.2350/10-09-0902-OA.1. Epub 2011 Mar 21.

PMID:
21417895
13.

Pattern of SMARCB1 (INI1) and SMARCA4 (BRG1) in poorly differentiated endometrioid adenocarcinoma of the uterus: analysis of a series with emphasis on a novel SMARCA4-deficient dedifferentiated rhabdoid variant.

Strehl JD, Wachter DL, Fiedler J, Heimerl E, Beckmann MW, Hartmann A, Agaimy A.

Ann Diagn Pathol. 2015 Aug;19(4):198-202. doi: 10.1016/j.anndiagpath.2015.04.001. Epub 2015 Apr 7.

PMID:
25920939
14.

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

Ramos P, Karnezis AN, Craig DW, Sekulic A, Russell ML, Hendricks WP, Corneveaux JJ, Barrett MT, Shumansky K, Yang Y, Shah SP, Prentice LM, Marra MA, Kiefer J, Zismann VL, McEachron TA, Salhia B, Prat J, D'Angelo E, Clarke BA, Pressey JG, Farley JH, Anthony SP, Roden RB, Cunliffe HE, Huntsman DG, Trent JM.

Nat Genet. 2014 May;46(5):427-9. doi: 10.1038/ng.2928. Epub 2014 Mar 23.

15.

Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Report of a Bilateral Case in a Teenager Associated with SMARCA4 Germline Mutation.

Lavrut PM, Le Loarer F, Normand C, Grosos C, Dubois R, Buenerd A, Conter C, Dijoud F, Blay JY, Collardeau-Frachon S.

Pediatr Dev Pathol. 2016 Jan-Feb;19(1):56-60. doi: 10.2350/15-04-1624-CR.1. Epub 2015 Jul 31.

PMID:
26230154
16.

Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).

Bailey S, Murray MJ, Witkowski L, Hook E, Hasselblatt M, Crawford R, Foulkes WD, Tischkowitz M, Nicholson JC.

Pediatr Blood Cancer. 2015 Apr;62(4):728-30. doi: 10.1002/pbc.25279. Epub 2014 Oct 12.

PMID:
25307865
17.

Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.

Ammerlaan AC, Ararou A, Houben MP, Baas F, Tijssen CC, Teepen JL, Wesseling P, Hulsebos TJ.

Br J Cancer. 2008 Jan 29;98(2):474-9. Epub 2007 Dec 18.

18.

Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type.

Moes-Sosnowska J, Szafron L, Nowakowska D, Dansonka-Mieszkowska A, Budzilowska A, Konopka B, Plisiecka-Halasa J, Podgorska A, Rzepecka IK, Kupryjanczyk J.

Orphanet J Rare Dis. 2015 Mar 15;10:32. doi: 10.1186/s13023-015-0247-4.

19.

Genetic and epigenetic screening for gene alterations of the chromatin-remodeling factor, SMARCA4/BRG1, in lung tumors.

Medina PP, Carretero J, Fraga MF, Esteller M, Sidransky D, Sanchez-Cespedes M.

Genes Chromosomes Cancer. 2004 Oct;41(2):170-7. Erratum in: Genes Chromosomes Cancer. 2005 Feb;42(2):211.

PMID:
15287030
20.

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation.

Janson K, Nedzi LA, David O, Schorin M, Walsh JW, Bhattacharjee M, Pridjian G, Tan L, Judkins AR, Biegel JA.

Pediatr Blood Cancer. 2006 Sep;47(3):279-84.

PMID:
16261613

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