Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 4
Results: 22
The UTX gene escapes X inactivation in mice and humans.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 737, doi. 10.1093/hmg/7.4.737
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Conserved use of a non-canonical 5′ splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 685, doi. 10.1093/hmg/7.4.685
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IMPT1, an imprinted gene similar to polyspecific transporter and multi-drug resistance genes.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 597, doi. 10.1093/hmg/7.4.597
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Specific interaction between the XNP /ATR-X gene product and the SET domain of the human EZH2 protein.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 679, doi. 10.1093/hmg/7.4.679
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Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 709, doi. 10.1093/hmg/7.4.709
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Localization of motor-related proteins and associated complexes to active, but not inactive, centromeres.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 671, doi. 10.1093/hmg/7.4.671
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Non-disjunction of chromosome 18.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 661, doi. 10.1093/hmg/7.4.661
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Dystrophins in vertebrates and invertebrates.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 589, doi. 10.1093/hmg/7.4.589
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A sea urchin gene encoding dystrophin-related proteins.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 581, doi. 10.1093/hmg/7.4.581
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Identification of four new mutations in the short-chain acyl-CoA dehydrogenase ( SCAD) gene in two patients: one of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case ...
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 619, doi. 10.1093/hmg/7.4.619
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Metaphase fragility of the human RNU1 and RNU2 loci is induced by actinomycin D through a p53-dependent pathway.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 609
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ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 629, doi. 10.1093/hmg/7.4.629
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Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 703, doi. 10.1093/hmg/7.4.703
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A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 715
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- Article
Replication of a common fragile site, FRA3B, occurs late in S phase and is delayed further upon induction: implications for the mechanism of fragile site induction.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 755, doi. 10.1093/hmg/7.4.755
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Sequencing of the α-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 751, doi. 10.1093/hmg/7.4.751
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Characterization of lpd (lipid defect): a novel mutation on mouse chromosome 16 associated with a defect in triglyceride metabolism.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 743, doi. 10.1093/hmg/7.4.743
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Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 693, doi. 10.1093/hmg/7.4.693
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- Article
Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 723, doi. 10.1093/hmg/7.4.715
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The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 637, doi. 10.1093/hmg/7.4.637
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Novel mutation processes in the evolution of a haploid minisatellite, MSY1: array homogenization without homogenization.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 655, doi. 10.1093/hmg/7.4.655
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Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 ( DYF155S1 ).
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 643, doi. 10.1093/hmg/7.4.643
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- Article