Literature DB >> 19320657

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

M J Smith, C D Boyd, M M MacCollin, S R Plotkin.   

Abstract

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Year:  2009        PMID： 19320657     DOI： 10.1111/j.1399-0004.2009.01156.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.

Authors:  Miriam J Smith; Andrew J Wallace; Naomi L Bowers; Cecilie F Rustad; C Geoff Woods; Guy D Leschziner; Rosalie E Ferner; D Gareth R Evans
Journal:  Neurogenetics       Date:  2012-03-22       Impact factor: 2.660

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

Authors:  Guillaume Rousseau; Tetsuro Noguchi; Violaine Bourdon; Hagay Sobol; Sylviane Olschwang
Journal:  BMC Neurol       Date:  2011-01-24       Impact factor: 2.474

3.  Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

Authors:  Miriam J Smith; James A Walker; Yiping Shen; Anat Stemmer-Rachamimov; James F Gusella; Scott R Plotkin
Journal:  Hum Mol Genet       Date:  2012-09-04       Impact factor: 6.150
  3 in total

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