Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 5
Results: 24
Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 5, p. 795, doi. 10.1093/hmg/8.5.795
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- Article
A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 783, doi. 10.1093/hmg/8.5.783
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- Article
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 831, doi. 10.1093/hmg/8.5.831
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- Article
Dysferlin is a plasma membrane protein and is expressed early in human development.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 855, doi. 10.1093/hmg/8.5.855
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- Article
Impaired synaptic plasticity in mice carrying the Huntington's disease mutation.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 839, doi. 10.1093/hmg/8.5.839
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- Article
Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 5, p. 723, doi. 10.1093/hmg/8.5.723
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- Article
Zim1, a maternally expressed mouse Kruppel-type zinc-finger gene located in proximal chromosome 7.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 847, doi. 10.1093/hmg/8.5.847
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- Article
Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 731, doi. 10.1093/hmg/8.5.731
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- Article
Formation of polyglutamine inclusions in non-CNS tissue.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 813, doi. 10.1093/hmg/8.5.813
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- Article
Extremely complex repeat shuffling during germline mutation at human minisatellite B6.7.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 879, doi. 10.1093/hmg/8.5.879
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- Article
Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 863, doi. 10.1093/hmg/8.5.863
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- Article
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 899, doi. 10.1093/hmg/8.5.899
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- Article
Germline BRCA1 alterations in a population-based series of ovarian cancer cases.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 889, doi. 10.1093/hmg/8.5.889
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- Article
DNA pooling identifies QTLs on chromosome 4 for general cognitive ability in children.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 915, doi. 10.1093/hmg/8.5.915
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- Article
Genome-wide scan for autism susceptibility genes.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 805
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- Publication type:
- Article
Transchromosomal mouse embryonic stem cell lines and chimeric mice that contain freely segregating segments of human chromosome 21.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 923, doi. 10.1093/hmg/8.5.923
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- Article
Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 823, doi. 10.1093/hmg/8.5.823
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- Publication type:
- Article
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 743, doi. 10.1093/hmg/8.5.743
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- Article
The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 775, doi. 10.1093/hmg/8.5.775
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- Article
Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 907, doi. 10.1093/hmg/8.5.907
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- Article
A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 763, doi. 10.1093/hmg/8.5.763
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- Article
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 935, doi. 10.1093/hmg/8.5.935
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- Article
Generation of an ∼2.4 Mb human X centromere-based minichromosome by targeted telomere-associated chromosome fragmentation in DT40.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 751, doi. 10.1093/hmg/8.5.751
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- Article
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 5, p. 871, doi. 10.1093/hmg/8.5.871
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- Article