Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 6
Results: 22
A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 989, doi. 10.1093/hmg/8.6.989
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- Article
Sialidase-mediated depletion of G[sub m2] ganglioside in Tay-Sachs neuroglia cells.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1111, doi. 10.1093/hmg/8.6.1111
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- Article
Gene shifting: a novel therapy for mitochondrial myopathy.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1047, doi. 10.1093/hmg/8.6.1047
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- Article
Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 947, doi. 10.1093/hmg/8.6.947
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- Article
Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1017, doi. 10.1093/hmg/8.6.1017
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- Article
Characterization of regions functional in the nuclear localization of the Fanconi anemia group A protein.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1007, doi. 10.1093/hmg/8.6.1007
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Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1061, doi. 10.1093/hmg/8.6.1061
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- Article
Correlations of genotype and phenotype in hypophosphatasia.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1039, doi. 10.1093/hmg/8.6.1039
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- Article
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 971, doi. 10.1093/hmg/8.6.971
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T-STAR/ETOILE: a novel relative of SAM68 that interacts with an RNA-binding protein implicated in spermatogenesis.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 959, doi. 10.1093/hmg/8.6.959
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- Article
Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL).
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1091, doi. 10.1093/hmg/8.6.1091
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- Article
Adenovirus-mediated expression of mutant DRPLA proteins with expanded polyglutamine stretches in neuronally differentiated PC12 cells. Preferential intranuclear aggregate formation and apoptosis.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 997, doi. 10.1093/hmg/8.6.997
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- Article
Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1053, doi. 10.1093/hmg/8.6.1053
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- Article
Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1099, doi. 10.1093/hmg/8.6.1099
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Intracellular localization and loss of copper responsiveness on Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo [sup blo]) and brindled (Mo [sup br]) mouse mutants.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1069, doi. 10.1093/hmg/8.6.1069
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The timing of XIST replication: dominance of the domain.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1085, doi. 10.1093/hmg/8.6.1085
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Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1077, doi. 10.1093/hmg/8.6.1077
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The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1125, doi. 10.1093/hmg/8.6.1125
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PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activitation by Brn-2 and affects cell survival.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 977, doi. 10.1093/hmg/8.6.977
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Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1025, doi. 10.1093/hmg/8.6.1025
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\Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1117, doi. 10.1093/hmg/8.6.1117
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Novel genetic association between the corneodesmosin (MHC S) gene and susceptibility to psoriasis.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1135, doi. 10.1093/hmg/8.6.1135
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- Article