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Items: 1 to 20 of 116

1.

SMARCB1 involvement in the development of leiomyoma in a patient with schwannomatosis.

Hulsebos TJ, Kenter S, Siebers-Renelt U, Hans V, Wesseling P, Flucke U.

Am J Surg Pathol. 2014 Mar;38(3):421-5. doi: 10.1097/PAS.0000000000000110.

PMID:
24525513
2.

Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.

Paganini I, Sestini R, Cacciatore M, Capone GL, Candita L, Paolello C, Sbaraglia M, Dei Tos AP, Rossi S, Papi L.

Hum Pathol. 2015 Aug;46(8):1226-31. doi: 10.1016/j.humpath.2015.04.008. Epub 2015 May 6.

PMID:
26001331
3.

RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas.

Melean G, Velasco A, Hernández-Imaz E, Rodríguez-Álvarez FJ, Martín Y, Valero A, Hernández-Chico C.

Neurogenetics. 2012 Aug;13(3):267-74. doi: 10.1007/s10048-012-0335-8. Epub 2012 Jul 1.

PMID:
22752724
4.

Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.

van den Munckhof P, Christiaans I, Kenter SB, Baas F, Hulsebos TJ.

Neurogenetics. 2012 Feb;13(1):1-7. doi: 10.1007/s10048-011-0300-y. Epub 2011 Oct 26.

PMID:
22038540
5.

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

Gossai N, Biegel JA, Messiaen L, Berry SA, Moertel CL.

Am J Med Genet A. 2015 Dec;167A(12):3186-91. doi: 10.1002/ajmg.a.37356. Epub 2015 Sep 14.

PMID:
26364901
6.

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.

Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L.

Hum Mutat. 2008 Feb;29(2):227-31.

PMID:
18072270
7.

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells.

Hulsebos TJ, Kenter S, Baas F, Nannenberg EA, Bleeker FE, van Minkelen R, van den Ouweland AM, Wesseling P, Flucke U.

Genes Chromosomes Cancer. 2016 Apr;55(4):350-4. doi: 10.1002/gcc.22338. Epub 2016 Jan 22.

PMID:
26799435
8.

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.

Smith MJ, Wallace AJ, Bowers NL, Eaton H, Evans DG.

Cancer Genet. 2014 Sep;207(9):373-8. doi: 10.1016/j.cancergen.2014.04.001. Epub 2014 Apr 8.

PMID:
24933152
9.

An unusual case of schwannomatosis with bilateral maxillary sinus schwannomas and a novel SMARCB1 gene mutation.

Toms J, Harrison J, Richard H, Childers A, Reiter ER, Graham RS.

J Neurosurg Spine. 2016 Jan;24(1):160-6. doi: 10.3171/2015.4.SPINE15192. Epub 2015 Oct 2.

PMID:
26431068
10.

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.

Rousseau G, Noguchi T, Bourdon V, Sobol H, Olschwang S.

BMC Neurol. 2011 Jan 24;11:9. doi: 10.1186/1471-2377-11-9.

11.

Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.

Christiaans I, Kenter SB, Brink HC, van Os TA, Baas F, van den Munckhof P, Kidd AM, Hulsebos TJ.

J Med Genet. 2011 Feb;48(2):93-7. doi: 10.1136/jmg.2010.082420. Epub 2010 Oct 7.

PMID:
20930055
12.

SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis.

Hulsebos TJ, Kenter SB, Jakobs ME, Baas F, Chong B, Delatycki MB.

Clin Genet. 2010 Jan;77(1):86-91. doi: 10.1111/j.1399-0004.2009.01249.x. Epub 2009 Nov 3.

PMID:
19912265
13.

A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.

Zhang K, Lin JW, Wang J, Wu X, Gao H, Hsieh YC, Hwu P, Liu YR, Su L, Chiou HY, Wang D, Yuan YC, Whang-Peng J, Chiu WT, Yen Y.

Genet Med. 2014 Oct;16(10):787-92. doi: 10.1038/gim.2014.39. Epub 2014 Apr 24.

14.

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.

Smith MJ, Wallace AJ, Bowers NL, Rustad CF, Woods CG, Leschziner GD, Ferner RE, Evans DG.

Neurogenetics. 2012 May;13(2):141-5. doi: 10.1007/s10048-012-0319-8. Epub 2012 Mar 22.

PMID:
22434358
15.

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

Smith MJ, Walker JA, Shen Y, Stemmer-Rachamimov A, Gusella JF, Plotkin SR.

Hum Mol Genet. 2012 Dec 15;21(24):5239-45. doi: 10.1093/hmg/dds370. Epub 2012 Sep 4.

16.

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.

Bacci C, Sestini R, Provenzano A, Paganini I, Mancini I, Porfirio B, Vivarelli R, Genuardi M, Papi L.

Neurogenetics. 2010 Feb;11(1):73-80. doi: 10.1007/s10048-009-0204-2. Epub 2009 Jul 7.

PMID:
19582488
17.

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.

Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, McCann E, Trump D, Prescott T, Evans DG.

J Med Genet. 2008 Jun;45(6):332-9. doi: 10.1136/jmg.2007.056499. Epub 2008 Feb 19. Erratum in: J Med Genet. 2008 Sep;45(9):608.

PMID:
18285426
18.

Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors.

Hulsebos TJ, Kenter S, Verhagen WI, Baas F, Flucke U, Wesseling P.

Acta Neuropathol. 2014 Sep;128(3):439-48. doi: 10.1007/s00401-014-1281-3. Epub 2014 Apr 17.

PMID:
24740647
19.

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM.

Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22.

20.

Familial schwannomatosis with a germline mutation of SMARCB1 in Japan.

Asai K, Tani S, Mineharu Y, Tsurusaki Y, Imai Y, Agawa Y, Iwaki K, Matsumoto N, Sakai N.

Brain Tumor Pathol. 2015 Jul;32(3):216-20. doi: 10.1007/s10014-015-0213-9. Epub 2015 Jan 29.

PMID:
25631985

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