Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 13
Results: 19
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 2018, doi. 10.1093/hmg/ddn099
- By:
- Publication type:
- Article
Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 2006, doi. 10.1093/hmg/ddn098
- By:
- Publication type:
- Article
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1877, doi. 10.1093/hmg/ddn083
- By:
- Publication type:
- Article
Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1946, doi. 10.1093/hmg/ddn092
- By:
- Publication type:
- Article
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1956, doi. 10.1093/hmg/ddn093
- By:
- Publication type:
- Article
De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 2058, doi. 10.1093/hmg/ddn105
- By:
- Publication type:
- Article
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1904, doi. 10.1093/hmg/ddn088
- By:
- Publication type:
- Article
APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 2039, doi. 10.1093/hmg/ddn101
- By:
- Publication type:
- Article
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 2030, doi. 10.1093/hmg/ddn100
- By:
- Publication type:
- Article
Endocannabinoid receptor 1 gene variations increase risk for obesity and modulate body mass index in European populations.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1916, doi. 10.1093/hmg/ddn089
- By:
- Publication type:
- Article
Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1938, doi. 10.1093/hmg/ddn091
- By:
- Publication type:
- Article
DNA double-strand break repair in parental chromatin of mouse zygotes, the first cell cycle as an origin of de novo mutation.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1922, doi. 10.1093/hmg/ddn090
- By:
- Publication type:
- Article
The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 2047, doi. 10.1093/hmg/ddn102
- By:
- Publication type:
- Article
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1968, doi. 10.1093/hmg/ddn094
- By:
- Publication type:
- Article
Haemoglobin S and haemoglobin C: ‘quick but costly’ versus ‘slow but gratis’ genetic adaptations to Plasmodium falciparum malaria.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 2070, doi. 10.1093/hmg/ddn111
- By:
- Publication type:
- Article
Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1890
- By:
- Publication type:
- Article
Genetic background conversion ameliorates semi-lethality and permits behavioral analyses in cystathionine β-synthase-deficient mice, an animal model for hyperhomocysteinemia.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1994, doi. 10.1093/hmg/ddn097
- By:
- Publication type:
- Article
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1988, doi. 10.1093/hmg/ddn096
- By:
- Publication type:
- Article
Functional definition of the mutation cluster region of adenomatous polyposis coli in colorectal tumours.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1978, doi. 10.1093/hmg/ddn095
- By:
- Publication type:
- Article