Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 3
Results: 18
Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 453, doi. 10.1093/hmg/8.3.453
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Allele-specific late replication and fragility of the most active common fragile site, FRA3B.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 431, doi. 10.1093/hmg/8.3.431
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- Article
Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 413, doi. 10.1093/hmg/8.3.413
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- Article
Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 439, doi. 10.1093/hmg/8.3.439
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- Article
Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 387, doi. 10.1093/hmg/8.3.387
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- Article
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 425, doi. 10.1093/hmg/8.3.425
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- Article
Methylation profiling of CpG islands in human breast cancer cells.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 459, doi. 10.1093/hmg/8.3.459
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- Article
Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 493, doi. 10.1093/hmg/8.3.493
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- Article
Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 509, doi. 10.1093/hmg/8.3.509
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- Article
An α-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 409, doi. 10.1093/hmg/8.3.409
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- Article
Distinct mutation patterns of breast cancer-associated alleles of the HRAS1 minisatellite locus.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 515, doi. 10.1093/hmg/8.3.515
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- Article
Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 397, doi. 10.1093/hmg/8.3.397
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- Article
The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 533
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- Article
Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 501, doi. 10.1093/hmg/8.3.501
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- Article
Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 481, doi. 10.1093/hmg/8.3.481
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- Article
The Batten disease gene product (CLN3p) is a Golgi integral membrane protein.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 523, doi. 10.1093/hmg/8.3.523
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- Article
Dystonia associated with mutation of the neuronal sodium channel and identification of the modifier Scnm1 locus on mouse chromosome 3.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 471, doi. 10.1093/hmg/8.3.471
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- Article
Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein.
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- Human Molecular Genetics, 1999, v. 8, n. 3, p. 543, doi. 10.1093/hmg/8.3.543
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- Article