Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 3
Results: 17
A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 3, p. 421, doi. 10.1093/hmg/9.3.421
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- Article
Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 325, doi. 10.1093/hmg/9.3.325
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- Article
Altered cholesterol metabolism in human apolipoprotein E4 knock-in mice.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 353, doi. 10.1093/hmg/9.3.353
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- Article
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 367, doi. 10.1093/hmg/9.3.367
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- Article
Microsatellite instability in tumors as a model to study the process of microsatellite mutations.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 347, doi. 10.1093/hmg/9.3.347
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- Article
Mutations of a human homologue of the Drosophila eyes absent gene (EYA1 ) detected in patients with congenital cataracts and ocular anterior segment anomalies.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 363, doi. 10.1093/hmg/9.3.363
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- Article
The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 375
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- Article
Genetic evidence for a trans -heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 447, doi. 10.1093/hmg/9.3.447
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- Article
Functional analysis of novel mutations in y[sup +]LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 431, doi. 10.1093/hmg/9.3.431
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- Article
Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 439, doi. 10.1093/hmg/9.3.439
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- Article
The cell cycle control gene ZAC /PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 453, doi. 10.1093/hmg/9.3.453
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- Article
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 395, doi. 10.1093/hmg/9.3.395
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- Article
Mice deficient in the candidate tumor suppressor gene Hic1 exhibit developmental defects of structures affected in the Miller-Dieker syndrome.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 413, doi. 10.1093/hmg/9.3.413
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- Article
Huntingtin is required for normal hematopoiesis.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 387, doi. 10.1093/hmg/9.3.387
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- Article
The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 403, doi. 10.1093/hmg/9.3.403
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- Article
The human centromeric survival motor neuron gene ( SMN2) rescues embryonic lethality in Smn[sup -/-] mice and results in a mouse with spinal muscular atrophy.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 333, doi. 10.1093/hmg/9.3.333
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- Article
Reduced survival motor neuron ( Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III.
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- Human Molecular Genetics, 2000, v. 9, n. 3, p. 341, doi. 10.1093/hmg/9.3.341
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- Article