Found: 14
Select item for more details and to access through your institution.
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2647, doi. 10.1093/hmg/ddm231
- By:
- Publication type:
- Article
Isolation and characterization of the Drosophila ubiquilin ortholog dUbqln: in vivo interaction with early-onset Alzheimer disease genes.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2626
- By:
- Publication type:
- Article
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn−/− mice and results in a mouse with spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2648, doi. 10.1093/hmg/ddm236
- By:
- Publication type:
- Article
Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2591, doi. 10.1093/hmg/ddm216
- By:
- Publication type:
- Article
Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2600, doi. 10.1093/hmg/ddm217
- By:
- Publication type:
- Article
Association analysis of functional variants of the FcgRIIa and FcgRIIIa genes with type 1 diabetes, celiac disease and rheumatoid arthritis.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2552, doi. 10.1093/hmg/ddm194
- By:
- Publication type:
- Article
Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2529, doi. 10.1093/hmg/ddm145
- By:
- Publication type:
- Article
Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2572, doi. 10.1093/hmg/ddm209
- By:
- Publication type:
- Article
Lymphotoxin-β regulates periderm differentiation during embryonic skin development.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2583, doi. 10.1093/hmg/ddm210
- By:
- Publication type:
- Article
Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2560, doi. 10.1093/hmg/ddm197
- By:
- Publication type:
- Article
Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2542, doi. 10.1093/hmg/ddm187
- By:
- Publication type:
- Article
Restoration of the balanced α/β-globin gene expression in β654-thalassemia mice using combined RNAi and antisense RNA approach.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2616, doi. 10.1093/hmg/ddm218
- By:
- Publication type:
- Article
Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2640, doi. 10.1093/hmg/ddm221
- By:
- Publication type:
- Article
Gene expression fingerprinting for human hereditary hemorrhagic telangiectasia.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2649, doi. 10.1093/hmg/ddm250
- By:
- Publication type:
- Article