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Items: 1 to 20 of 106

1.

Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor.

Bourdeaut F, Lequin D, Brugières L, Reynaud S, Dufour C, Doz F, André N, Stephan JL, Pérel Y, Oberlin O, Orbach D, Bergeron C, Rialland X, Fréneaux P, Ranchere D, Figarella-Branger D, Audry G, Puget S, Evans DG, Pinas JC, Capra V, Mosseri V, Coupier I, Gauthier-Villars M, Pierron G, Delattre O.

Clin Cancer Res. 2011 Jan 1;17(1):31-8. doi: 10.1158/1078-0432.CCR-10-1795.

2.

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.

Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA.

Pediatr Blood Cancer. 2011 Jan;56(1):7-15. doi: 10.1002/pbc.22831.

3.

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
4.

Molecular analysis of the rhabdoid predisposition syndrome in a child: a novel germline hSNF5/INI1 mutation and absence of c-myc amplification.

Fujisawa H, Takabatake Y, Fukusato T, Tachibana O, Tsuchiya Y, Yamashita J.

J Neurooncol. 2003 Jul;63(3):257-62.

PMID:
12892231
5.

hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities.

Bourdeaut F, Fréneaux P, Thuille B, Lellouch-Tubiana A, Nicolas A, Couturier J, Pierron G, Sainte-Rose C, Bergeron C, Bouvier R, Rialland X, Laurence V, Michon J, Sastre-Garau X, Delattre O.

J Pathol. 2007 Feb;211(3):323-30.

PMID:
17152049
6.

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

Gigante L, Paganini I, Frontali M, Ciabattoni S, Sangiuolo FC, Papi L.

Fam Cancer. 2016 Jan;15(1):123-6. doi: 10.1007/s10689-015-9836-6.

PMID:
26342593
7.

Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.

Sévenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O.

Am J Hum Genet. 1999 Nov;65(5):1342-8.

8.

Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS).

Kordes U, Bartelheim K, Modena P, Massimino M, Biassoni V, Reinhard H, Hasselblatt M, Schneppenheim R, Frühwald MC.

Pediatr Blood Cancer. 2014 May;61(5):919-21. doi: 10.1002/pbc.24793. Epub 2013 Oct 3.

PMID:
24123847
9.

Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system.

Bruggers CS, Bleyl SB, Pysher T, Barnette P, Afify Z, Walker M, Biegel JA.

Pediatr Blood Cancer. 2011 Jul 1;56(7):1026-31. doi: 10.1002/pbc.22757. Epub 2010 Sep 16.

10.

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.

11.

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
12.

Rhabdoid tumor of the kidney is a component of the rhabdoid predisposition syndrome.

Lee HY, Yoon CS, Sevenet N, Rajalingam V, Delattre O, Walford NQ.

Pediatr Dev Pathol. 2002 Jul-Aug;5(4):395-9. Epub 2002 May 21.

PMID:
12016529
13.

Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome.

Frühwald MC, Hasselblatt M, Wirth S, Köhler G, Schneppenheim R, Subero JI, Siebert R, Kordes U, Jürgens H, Vormoor J.

Pediatr Blood Cancer. 2006 Sep;47(3):273-8.

PMID:
16206192
14.

Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.

Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B.

Cancer Res. 1999 Jan 1;59(1):74-9.

15.

Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene.

Taylor MD, Gokgoz N, Andrulis IL, Mainprize TG, Drake JM, Rutka JT.

Am J Hum Genet. 2000 Apr;66(4):1403-6. Epub 2000 Mar 14.

16.

Rhabdoid tumour: a malignancy of early childhood with variable primary site, histology and clinical behaviour.

Wu X, Dagar V, Algar E, Muscat A, Bandopadhayay P, Ashley D, Wo Chow C.

Pathology. 2008 Dec;40(7):664-70. doi: 10.1080/00313020802436451.

PMID:
18985520
17.

Cyclin D1 is overexpressed in atypical teratoid/rhabdoid tumor with hSNF5/INI1 gene inactivation.

Fujisawa H, Misaki K, Takabatake Y, Hasegawa M, Yamashita J.

J Neurooncol. 2005 Jun;73(2):117-24.

PMID:
15981100
18.

Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors.

Biegel JA, Tan L, Zhang F, Wainwright L, Russo P, Rorke LB.

Clin Cancer Res. 2002 Nov;8(11):3461-7.

19.

Infrequent SMARCB1/INI1 gene alteration in epithelioid sarcoma: a useful tool in distinguishing epithelioid sarcoma from malignant rhabdoid tumor.

Kohashi K, Izumi T, Oda Y, Yamamoto H, Tamiya S, Taguchi T, Iwamoto Y, Hasegawa T, Tsuneyoshi M.

Hum Pathol. 2009 Mar;40(3):349-55. doi: 10.1016/j.humpath.2008.08.007. Epub 2008 Oct 29.

PMID:
18973917
20.

High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors.

Hasselblatt M, Isken S, Linge A, Eikmeier K, Jeibmann A, Oyen F, Nagel I, Richter J, Bartelheim K, Kordes U, Schneppenheim R, Frühwald M, Siebert R, Paulus W.

Genes Chromosomes Cancer. 2013 Feb;52(2):185-90. doi: 10.1002/gcc.22018. Epub 2012 Oct 17.

PMID:
23074045

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