Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 19
Results: 15
Calcium-permeable AMPA receptors promote misfolding of mutant SOD1 protein and development of amyotrophic lateral sclerosis in a transgenic mouse model.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2183, doi. 10.1093/hmg/ddh246
- By:
- Publication type:
- Article
SNPs in the promoter of a B cell-specific antisense transcript, SAS-ZFAT, determine susceptibility to autoimmune thyroid disease.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2221, doi. 10.1093/hmg/ddh245
- By:
- Publication type:
- Article
Promoter-restricted histone code, not the differentially methylated DNA regions or antisense transcripts, marks the imprinting status of IGF2R in human and mouse.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2233
- By:
- Publication type:
- Article
Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2289, doi. 10.1093/hmg/ddh243
- By:
- Publication type:
- Article
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2165, doi. 10.1093/hmg/ddh242
- By:
- Publication type:
- Article
Age-associated alteration of gene expression patterns in mouse oocytes.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2263, doi. 10.1093/hmg/ddh241
- By:
- Publication type:
- Article
The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2333, doi. 10.1093/hmg/ddh240
- By:
- Publication type:
- Article
Genome-wide linkage analysis of a composite index of neuroticism and mood-related scales in extreme selected sibships.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2173, doi. 10.1093/hmg/ddh239
- By:
- Publication type:
- Article
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2303, doi. 10.1093/hmg/ddh238
- By:
- Publication type:
- Article
Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2207, doi. 10.1093/hmg/ddh236
- By:
- Publication type:
- Article
In vivo function of the conserved non-catalytic domain of Werner syndrome helicase in DNA replication.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2247, doi. 10.1093/hmg/ddh234
- By:
- Publication type:
- Article
Meta-analysis of genome-wide scans for hypertension and blood pressure in Caucasians shows evidence of susceptibility regions on chromosomes 2 and 3.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2325, doi. 10.1093/hmg/ddh237
- By:
- Publication type:
- Article
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2313, doi. 10.1093/hmg/ddh235
- By:
- Publication type:
- Article
A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2197
- By:
- Publication type:
- Article
The expression of human mitochondrial ferritin rescues respiratory function infrataxin-deficient yeast.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2279, doi. 10.1093/hmg/ddh232
- By:
- Publication type:
- Article