An imprinted antisense transcript at the human GNAS1 locus.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 835, doi. 10.1093/hmg/9.5.835
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 5
Results: 22
1
2
Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 829, doi. 10.1093/hmg/9.5.829
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- Publication type:
- Article
3
The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 821, doi. 10.1093/hmg/9.5.821
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- Publication type:
- Article
4
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 813, doi. 10.1093/hmg/9.5.813
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- Publication type:
- Article
5
Allele diversity and germline mutation at the insulin minisatellite.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 713, doi. 10.1093/hmg/9.5.713
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- Publication type:
- Article
6
Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 745, doi. 10.1093/hmg/9.5.745
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- Publication type:
- Article
7
Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulated.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 769, doi. 10.1093/hmg/9.5.769
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- Publication type:
- Article
8
Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 779, doi. 10.1093/hmg/9.5.779
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- Publication type:
- Article
9
Batten disease: evaluation of CLN3 mutations on protein localization and function.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 735, doi. 10.1093/hmg/9.5.735
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- Publication type:
- Article
10
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 795, doi. 10.1093/hmg/9.5.795
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- Publication type:
- Article
11
The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 663, doi. 10.1093/hmg/9.5.663
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- Publication type:
- Article
12
Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 787, doi. 10.1093/hmg/9.5.787
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- Publication type:
- Article
13
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 695, doi. 10.1093/hmg/9.5.695
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- Publication type:
- Article
14
High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 725, doi. 10.1093/hmg/9.5.725
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- Publication type:
- Article
15
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 765, doi. 10.1093/hmg/9.5.765
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- Publication type:
- Article
16
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 849, doi. 10.1093/hmg/9.5.849
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- Publication type:
- Article
17
Doublecortin mutations cluster in evolutionarily conserved functional domains.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 703, doi. 10.1093/hmg/9.5.703
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- Publication type:
- Article
18
Retention of imprinting of the human apoptosis-related gene TSSC3 in human brain tumors.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 757, doi. 10.1093/hmg/9.5.757
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- Publication type:
- Article
19
Increased motoneuron survival and improved neuromuscular function in transgenic ALS mice after intraspinal injection of an adeno-associated virus encoding Bcl-2.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 803, doi. 10.1093/hmg/9.5.803
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- Publication type:
- Article
20
RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2 β and affect splicing.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 685, doi. 10.1093/hmg/9.5.685
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- Publication type:
- Article
21
Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 843, doi. 10.1093/hmg/9.5.843
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- Publication type:
- Article
22
Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 675, doi. 10.1093/hmg/9.5.675
- By:
- Publication type:
- Article