Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 9
Results: 20
Decreased expression of striatal signaling genes in a mouse model of Huntington's disease.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1259
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- Article
A full genome scan for age-related maculopathy.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1329
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- Article
A novel protein with RNA-binding motifs interacts with ataxin-2.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1303
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Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structure.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1357
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- Article
Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham Study.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1315
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- Article
Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1393
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- Article
Mutational analysis of the GPC3 /GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.
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- Human Molecular Genetics, 2000, v. 9, n. 9
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- Article
MECP2 mutations account for most cases of typical forms of Rett syndrome.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1377
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Evaluation of fine mapping strategies for a multifactorial disease locus: systematic linkage and association analysis of IDDM1 in the HLA region on chromosome 6p21.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1291
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Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1403
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Linkage and linkage disequilibrium in chromosome band 1p36 in American Chaldeans with inflammatory bowel disease.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1425
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- Article
Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1433
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Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1443
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- Article
Biochemical and structural analysis of missense mutations in N -acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1283
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- Article
Disruption of two novel genes by a translocation co-segregating with schizophrenia.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1415
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A transcription-activating polymorphism in the ACHE promoter associated with acute sensitivity to anti-acetylcholinesterases.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1273
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- Article
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1369
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- Article
KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1351
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- Article
Spectrum of Δ [sup 7]-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
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- Human Molecular Genetics, 2000, v. 9, n. 9
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- Article
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1453
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- Article