Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 24
Results: 22
Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3197, doi. 10.1093/hmg/ddm307
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- Article
Translation of SOX10 3′ untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3037, doi. 10.1093/hmg/ddm262
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- Article
Succinate inhibition of α-ketoglutarate-dependent enzymes in a yeast model of paraganglioma.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3136, doi. 10.1093/hmg/ddm275
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Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 2991, doi. 10.1093/hmg/ddm257
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- Article
Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3188, doi. 10.1093/hmg/ddm299
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- Article
The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic RNA granules.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3047, doi. 10.1093/hmg/ddm263
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- Article
An increased frequency of the 5A allele in the promoter region of the MMP3 gene is associated with abdominal aortic aneurysms.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3002, doi. 10.1093/hmg/ddm258
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- Article
Paternal age at birth is an important determinant of offspring telomere length.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3097
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- Article
Heterozygosity of mannose-binding lectin (MBL2) genotypes predicts advantage (heterosis) in relation to fatal outcome in intensive care patients.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3071, doi. 10.1093/hmg/ddm265
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Association of single-nucleotide polymorphisms in MTMR9 gene with obesity.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3017, doi. 10.1093/hmg/ddm260
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Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3198, doi. 10.1093/hmg/ddm308
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- Article
Somatic acquisition of TGFBR1*6A by epithelial and stromal cells during head and neck and colon cancer development.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3128, doi. 10.1093/hmg/ddm274
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- Article
Functional characterization of NF-κB inhibitor-like protein 1 (NFκBIL1), a candidate susceptibility gene for rheumatoid arthritis.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3027, doi. 10.1093/hmg/ddm261
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- Article
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3174, doi. 10.1093/hmg/ddm293
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An MYH9 human disease model in flies: site-directed mutagenesis of the Drosophila non-muscle myosin II results in hypomorphic alleles with dominant character.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3160, doi. 10.1093/hmg/ddm279
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- Article
hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3149, doi. 10.1093/hmg/ddm276
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- Article
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot–Marie–Tooth disease-linked mutations in NFL and HSPB1.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3103, doi. 10.1093/hmg/ddm272
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- Article
Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3059, doi. 10.1093/hmg/ddm264
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- Article
Variation in DNA repair genes XRCC3, XRCC4, XRCC5 and susceptibility to myeloma.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3117, doi. 10.1093/hmg/ddm273
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- Article
Expansions of CAG·CTG repeats in immortalized human astrocytes.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3088, doi. 10.1093/hmg/ddm270
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An insertion–deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3008, doi. 10.1093/hmg/ddm259
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- Article
BNP is a transcriptional target of the short stature homeobox gene SHOX.
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- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3081, doi. 10.1093/hmg/ddm266
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- Article