Works matching IS 14345161 AND DT 2001 AND VI 46 AND IP 5
Results: 10
Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin.
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- Journal of Human Genetics, 2001, v. 46, n. 5, p. 245, doi. 10.1007/s100380170073
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Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator.
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- Journal of Human Genetics, 2001, v. 46, n. 5, p. 251, doi. 10.1007/s100380170074
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Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.
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- Journal of Human Genetics, 2001, v. 46, n. 5, p. 260, doi. 10.1007/s100380170075
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A rapid and simple method for sex identification by heteroduplex analysis, using denaturing high-performance liquid chromatography (DHPLC).
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- Journal of Human Genetics, 2001, v. 46, n. 5, p. 263, doi. 10.1007/s100380170076
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A nucleotide variant in the promoter region of the interleukin-6 gene associated with decreased bone mineral density.
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- Journal of Human Genetics, 2001, v. 46, n. 5, p. 267, doi. 10.1007/s100380170077
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- Article
The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.
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- Journal of Human Genetics, 2001, v. 46, n. 5, p. 273, doi. 10.1007/s100380170078
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Risk factor-gene interaction in carotid atherosclerosis: effect of gene polymorphisms of renin-angiotensin system.
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- Journal of Human Genetics, 2001, v. 46, n. 5, p. 278, doi. 10.1007/s100380170079
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Identification of three missense mutations in the peroxisome proliferator-activated receptor α gene in Japanese subjects with maturity-onset diabetes of the young.
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- Journal of Human Genetics, 2001, v. 46, n. 5, p. 285, doi. 10.1007/s100380170080
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Cloning and sequencing of a novel human gene which encodes a putative hydroxylase.
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- Journal of Human Genetics, 2001, v. 46, n. 5, p. 289, doi. 10.1007/s100380170081
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Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis.
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- Journal of Human Genetics, 2001, v. 46, n. 5, p. 293, doi. 10.1007/s100380170082
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- Article