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Items: 11

1.

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
2.

SMARCB1 mutations are not a common cause of multiple meningiomas.

Hadfield KD, Smith MJ, Trump D, Newman WG, Evans DG.

J Med Genet. 2010 Aug;47(8):567-8. doi: 10.1136/jmg.2009.075721. Epub 2010 May 14.

PMID:
20472658
3.

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
4.

The neurofibromatoses. Part 2: NF2 and schwannomatosis.

Lu-Emerson C, Plotkin SR.

Rev Neurol Dis. 2009 Summer;6(3):E81-6. Review.

PMID:
19898272
5.

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
6.

Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations.

Smith MJ, Boyd CD, MacCollin MM, Plotkin SR.

Clin Genet. 2009 May;75(5):501-2. doi: 10.1111/j.1399-0004.2009.01156.x. Epub 2009 Mar 23. No abstract available.

PMID:
19320657
7.

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis.

Boyd C, Smith MJ, Kluwe L, Balogh A, Maccollin M, Plotkin SR.

Clin Genet. 2008 Oct;74(4):358-66. doi: 10.1111/j.1399-0004.2008.01060.x. Epub 2008 Jul 21.

PMID:
18647326
8.

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
9.

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
10.

Germline mutation of INI1/SMARCB1 in familial schwannomatosis.

Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P.

Am J Hum Genet. 2007 Apr;80(4):805-10. Epub 2007 Feb 16.

11.

Diagnostic criteria for schwannomatosis.

MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, Lev M, Mautner VF, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A, Roach ES.

Neurology. 2005 Jun 14;64(11):1838-45. Review.

PMID:
15955931
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