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Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumors
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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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Closing in an the BPES gene on 3q23: Mapping of a de nova reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta '-COP, distal to the breakpoint
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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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Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization
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Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta ' subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization
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Molecular analysis of lp36 breakpoints in two Merkel cell carcinomas.
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Assignment of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25 -> q26.1 by in situ hybridization.
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Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.
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Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.