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Journal of Neurology|August 14, 2001
The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disordersV Pingault, N Bondurand, C Le Caignec, et al.
European Journal of Neurology|November 17, 2007
Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factorL Peter, F Niel, H Catenoix, et al.
American Journal of Medical Genetics. Part A|November 5, 2004
De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation patternG Tachdjian, A Aboura, M Benkhalifa, et al.
Human Mutation|April 27, 2004
Allelic heterogeneity of SMARD1 at the IGHMBP2 locusI Maystadt, M Zarhrate, P Landrieu, et al.
Pathologie-Biologie|December 15, 2010
De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic featuresA Debost-Legrand, Y Capri, L Gouas, et al.
Molecular Human Reproduction|August 10, 2004
DNA microarray analysis of gene expression profiles in deep endometriosis using laser capture microdissectionS Matsuzaki, M Canis, C Vaurs-Barrière, et al.
Morphologie : Bulletin De L'Association Des Anatomistes|August 23, 2005
An unusual familial chromosome 9 "variant" with variable phenotype: characterization by CGH analysisC Goumy, M Mihaescu, A Tchirkov, et al.
Neurology|July 27, 2001
Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27P Francalanci, E Eymard-Pierre, C Dionisi-Vici, et al.
Neurology|December 21, 2007
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like diseaseM Henneke, P Combes, S Diekmann, et al.
Neurology|June 4, 2008
Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorderA Vanderver, Y Hathout, J Maletkovic, et al.
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