Neuronal expression of the fukutin gene.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3083
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 20
Results: 20
1
2
Influence of allele lineage on the role of the insulin minisatellite in susceptibility to type 1 diabetes.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.2929
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- Publication type:
- Article
3
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3065
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- Publication type:
- Article
4
Molecular evolution of multiple recurrent cancers of the bladder.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.2973
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- Publication type:
- Article
5
Differential chromatin packaging of genomic imprinted regions between expressed and non-expressed alleles.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3029
- By:
- Publication type:
- Article
6
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3037
- By:
- Publication type:
- Article
7
Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3001
- By:
- Publication type:
- Article
8
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3011
- By:
- Publication type:
- Article
9
Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3075
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- Publication type:
- Article
10
Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3055
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- Publication type:
- Article
11
Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3101
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- Publication type:
- Article
12
Allele association studies with SSR and SNP markers at known physical distances within a 1 Mb region embracing the ALDH2 locus in the Japanese, demonstrates linkage disequilibrium extending up to 400 kb.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.2993
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- Publication type:
- Article
13
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3019
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- Publication type:
- Article
14
A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3091
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- Publication type:
- Article
15
Caveolin-3 deficiency causes muscle degeneration in mice.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3047
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- Publication type:
- Article
16
Gene expression profiling of primary breast carcinomas using arrays of candidate genes.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.2981
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- Publication type:
- Article
17
The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.2959
- By:
- Publication type:
- Article
18
Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.2967
- By:
- Publication type:
- Article
19
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20
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- Publication type:
- Article
20
Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: demography, chromosome recombination frequency and selection.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.2947
- By:
- Publication type:
- Article