Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 12
Results: 20
Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1795, doi. 10.1093/hmg/9.12.1795
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- Article
Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1813, doi. 10.1093/hmg/9.12.1813
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- Article
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1753, doi. 10.1093/hmg/9.12.1753
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- Article
Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiency.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1843, doi. 10.1093/hmg/9.12.1843
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- Article
Link between a novel human γ D-crystallin allele and a unique cataract phenotype explained by protein crystallography.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1779, doi. 10.1093/hmg/9.12.1779
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- Article
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1729, doi. 10.1093/hmg/9.12.1729
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- Article
The TSC1 gene product, hamartin, negatively regulates cell proliferation.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1721, doi. 10.1093/hmg/9.12.1721
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- Article
Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1829, doi. 10.1093/hmg/9.12.1829
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- Article
Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1873, doi. 10.1093/hmg/9.12.1873
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- Article
Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1759, doi. 10.1093/hmg/9.12.1759
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- Article
Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1771, doi. 10.1093/hmg/9.12.1771
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- Article
A Cre- lox recombination system for the targeted integration of circular yeast artificial chromosomes into embryonic stem cells.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1745, doi. 10.1093/hmg/9.12.1745
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- Article
Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1865, doi. 10.1093/hmg/9.12.1865
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- Article
Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1881, doi. 10.1093/hmg/9.12.1881
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- Article
A mouse model of galactose-induced cataracts.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1821
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- Article
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1787, doi. 10.1093/hmg/9.12.1787
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- Article
Human mini-chromosomes with minimal centromeres.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1891, doi. 10.1093/hmg/9.12.1891
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- Article
Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene ( Sim2 ) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1853, doi. 10.1093/hmg/9.12.1853
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- Article
Expression pattern of the Nijmegen breakage syndrome gene, Nbs1, during murine development.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1739, doi. 10.1093/hmg/9.12.1739
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- Article
Mice with a targeted disruption of the Fanconi anemia homolog Fanca.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1805, doi. 10.1093/hmg/9.12.1805
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- Article