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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
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Carrier screening for cystic fibrosis in a prenatal setting.
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Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation
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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
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Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish patients with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease
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Genetic counselling and testing for hereditary breast and ovarian cancer: the gent(le) approach
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Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
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Molecular diagnostic evaluation of NF1 patients using the combined approach of karyotyping, fluorescent in situ hybridisation, the protein truncation assay and heteroduplex analysis
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Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?
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Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.