Works matching IS 03406717 AND DT 2005 AND VI 118 AND IP 3/4
Results: 30
Allelic imbalance analysis of oral tongue squamous cell carcinoma by high-density single nucleotide polymorphism arrays using whole-genome amplified DNA.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 504, doi. 10.1007/s00439-005-0069-x
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- Article
Extensive Sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 331, doi. 10.1007/s00439-005-0065-1
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Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 382, doi. 10.1007/s00439-005-0012-1
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The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 372, doi. 10.1007/s00439-005-0059-z
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Acyl-CoA: cholesterol acyltransferase-2 gene polymorphisms and their association with plasma lipids and coronary artery disease risks.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 393, doi. 10.1007/s00439-005-0055-3
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A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 499, doi. 10.1007/s00439-005-0031-y
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One step closer to fixing association studies: evidence for age- and gender-specific allele frequency variations and deviations from Hardy-Weinberg expectations in controls.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 322, doi. 10.1007/s00439-005-0057-1
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- Article
Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 309, doi. 10.1007/s00439-005-0061-5
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Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 356, doi. 10.1007/s00439-005-0054-4
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A new locus ( RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 501, doi. 10.1007/s00439-005-0063-3
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Comprehensive genetic evaluation of common E-cadherin sequence variants and prostate cancer risk: strong confirmation of functional promoter SNP.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 339, doi. 10.1007/s00439-005-0060-6
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Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 348, doi. 10.1007/s00439-005-0036-6
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Geography is a better determinant of human genetic differentiation than ethnicity.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 366, doi. 10.1007/s00439-005-0039-3
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Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.
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- 2005
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- Correction Notice
An analysis of genetic variation across the MBL2 locus in Dutch Caucasians indicates that 3′ haplotypes could modify circulating levels of mannose-binding lectin.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 404, doi. 10.1007/s00439-005-0053-5
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The EPAS1 gene influences the aerobic–anaerobic contribution in elite endurance athletes.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 416, doi. 10.1007/s00439-005-0066-0
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Comparison of three methods to estimate genetic ancestry and control for stratification in genetic association studies among admixed populations.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 424, doi. 10.1007/s00439-005-0067-z
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Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 434, doi. 10.1007/s00439-005-0073-1
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HUMAN GENE MUTATIONS.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 534, doi. 10.1007/s00439-005-0040-x
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- Article
A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 451, doi. 10.1007/s00439-005-0064-2
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A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 458, doi. 10.1007/s00439-005-0068-y
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Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 466, doi. 10.1007/s00439-005-0048-2
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Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 444, doi. 10.1007/s00439-005-0051-7
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Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 477, doi. 10.1007/s00439-005-0074-0
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Linkage methods in human genetics before the computer.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 515, doi. 10.1007/s00439-005-0049-1
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Human gene mutations.
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- 2005
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- Correction Notice
Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 508, doi. 10.1007/s00439-005-0075-z
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Impaired transcriptional upregulation of Parkin promoter variant under oxidative stress and proteasomal inhibition: clinical association.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 484, doi. 10.1007/s00439-005-0038-4
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- Article
HUMAN GENE MUTATIONS.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 539, doi. 10.1007/s00439-005-0041-9
- Publication type:
- Article
Generation or birth cohort effect on cancer risk in Li–Fraumeni syndrome.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 489, doi. 10.1007/s00439-005-0016-x
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- Article