Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 8
Results: 27
The mouse Peutz-Jeghers syndrome gene Lkb1 encodes a nuclear protein kinase.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1479, doi. 10.1093/hmg/8.8.1479
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- Article
Use of a human minichromosome as a cloning and expression vector for mammalian cells.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1417, doi. 10.1093/hmg/8.8.1417
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PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggests a single entity with Cowden syndrome.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1461, doi. 10.1093/hmg/8.8.1461
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- Article
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1517, doi. 10.1093/hmg/8.8.1517
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An L1 element intronic insertion in the black-eyed white (MITF[sup mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1431, doi. 10.1093/hmg/8.8.1431
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Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotropic lateral sclerosis kindreds.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1451, doi. 10.1093/hmg/8.8.1451
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Targeted disruption of the lysosomal [alpha]-mannosidase gene results in mice resembling a mild form of human [alpha]-mannosidosis.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1365, doi. 10.1093/hmg/8.8.1365
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Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1473, doi. 10.1093/hmg/8.8.1473
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The pattern of replication at a human telomeric region (16p13.3): its relationship to chromosome structure and gene expression.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1373, doi. 10.1093/hmg/8.8.1373
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Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1491, doi. 10.1093/hmg/8.8.1491
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Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1509, doi. 10.1093/hmg/8.8.1509
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High prevalence of symptoms of Meniere's disease in three families with a mutation on the COCH gene.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1425, doi. 10.1093/hmg/8.8.1425
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- Article
Mild impairment of learning and memory in mice overexpressing the mSim2 gene located on chromosome 16: an animal model of Down's syndrome.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1409, doi. 10.1093/hmg/8.8.1409
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Cellular dysfunction of LQT5-minK mutants: abnormalities of I [sub Ks3] I [sub Kr] and trafficking in long QT syndrome.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1499, doi. 10.1093/hmg/8.8.1499
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Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1357, doi. 10.1093/hmg/8.8.1357
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Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1557, doi. 10.1093/hmg/8.8.1557
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Linkage and association of atopic asthma to markers on chromosome 13 in the Japanese population.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1487, doi. 10.1093/hmg/8.8.1487
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Novel alternatively spliced isoforms of the neurofibromatosis type 2 tumor suppressor are targeted to the nucleus and cytoplasmic granules.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1561, doi. 10.1093/hmg/8.8.1561
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A common functional polymorphism (C->A substitution at position -863) in the promoter region of the tumour necrosis factor-Alpha(TNF-Alpha) gene associated with reduced circulating levels of TNF-Alpha.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1443, doi. 10.1093/hmg/8.8.1443
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Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1523, doi. 10.1093/hmg/8.8.1523
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Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubles throughout the cell cycle.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1387, doi. 10.1093/hmg/8.8.1387
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RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1571, doi. 10.1093/hmg/8.8.1571
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A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1541, doi. 10.1093/hmg/8.8.1541
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Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1547, doi. 10.1093/hmg/8.8.1547
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Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased ABeta42 secretion.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1529, doi. 10.1093/hmg/8.8.1529
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MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1397, doi. 10.1093/hmg/8.8.1397
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Mutation of the Na-K-Cl co-transporter gene Sic12a2 results in deafness in mice.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1579, doi. 10.1093/hmg/8.8.1579
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- Article