Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 4
Results: 20
Characterization of dystrophin and utrophin diversity in the mouse.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 593, doi. 10.1093/hmg/8.4.593
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Cloning and characterization of a secreted frizzled-related protein that is expressed by the retinal pigment epithelium.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 575, doi. 10.1093/hmg/8.4.575
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A genome-wide screen for asthma-associated quantitative trait loci in a mouse model of allergic asthma.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 601, doi. 10.1093/hmg/8.4.601
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In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 555, doi. 10.1093/hmg/8.4.555
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Bex1, a gene with increased expression in parthenogenetic embryos, is a member of a novel gene family on the mouse X chromosome.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 611, doi. 10.1093/hmg/8.4.611
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Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 607, doi. 10.1093/hmg/8.4.607
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Excess of high activity monoamine oxidase A gene promoter alleles in female patients with panic disorder.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 621, doi. 10.1093/hmg/8.4.621
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Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 639, doi. 10.1093/hmg/8.4.639
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Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 655, doi. 10.1093/hmg/8.4.655
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Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 673, doi. 10.1093/hmg/8.4.673
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Structural and functional characterization of the mouse promoter: implications for campomelic dysplasia.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 691, doi. 10.1093/hmg/8.4.691
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MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 661, doi. 10.1093/hmg/8.4.661
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Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (/) arise from a winged helix/forkhead transcriptionfactor gene.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 625, doi. 10.1093/hmg/8.4.625
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Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 683, doi. 10.1093/hmg/8.4.683
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Inner ear and kidney anomalies caused by IAP insertion in an intron of the gene in a mouse model of BOR syndrome.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 645, doi. 10.1093/hmg/8.4.645
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Genetic mapping of a maternal locus responsible for familial hydatidiform moles.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 667, doi. 10.1093/hmg/8.4.667
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Functional domains of the SYT and SYT-SSX synovial sarcoma translocation proteins and co-localization with the SNF protein BRM in the nucleus.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 585, doi. 10.1093/hmg/8.4.585
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A wide variety of mutations in the gene are responsible for autosomal recessive parkinsonism in Europe.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 567
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Isolation and embryonic expression of the novel mouse gene , the homologue of , a candidate gene for the Miller-Dieker syndrome.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 697, doi. 10.1093/hmg/8.4.697
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Association of an extended haplotype in the gene with progressive supranuclear palsy.
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- Human Molecular Genetics, 1999, v. 8, n. 4, p. 711, doi. 10.1093/hmg/8.4.711
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