Literature DB >> 15744040

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

P Aubourg, M Krahn, R Bernard, K Nguyen, O Forzano, I Boccaccio, V Delague, A De Sandre-Giovannoli, J Pouget, D Depétris, M-G Mattei, N Philip, N Lévy.   

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Year:  2005        PMID： 15744040      PMCID： PMC1736008          DOI： 10.1136/jmg.2004.021899

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

1.  Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

Authors:  Roberto Di Fabio; Giovanna Comanducci; Francesca Piccolo; Filippo Maria Santorelli; Teresa De Berardinis; Alessandra Tessa; Umberto Sabatini; Francesco Pierelli; Carlo Casali
Journal:  Cerebellum       Date:  2013-02       Impact factor: 3.847

Review 2.  The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.

Authors:  Carolyn P Graeber; David G Hunter; Elizabeth C Engle
Journal:  Semin Ophthalmol       Date:  2013 Sep-Nov       Impact factor: 1.975

Review 3.  Recent progress in understanding congenital cranial dysinnervation disorders.

Authors:  Darren T Oystreck; Elizabeth C Engle; Thomas M Bosley
Journal:  J Neuroophthalmol       Date:  2011-03       Impact factor: 3.042

4.  Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.

Authors:  Gang Liu; Xue Chen; Xiantao Sun; Hu Liu; Kanxing Zhao; Qinglin Chang; Xinyuan Pan; Xiuying Wang; Songtao Yuan; Qinghuai Liu; Chen Zhao
Journal:  Mol Vis       Date:  2014-01-06       Impact factor: 2.367
  4 in total

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