Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 7
Results: 23
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1245, doi. 10.1093/hmg/8.7.1245
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Defective chromosome segregation, microtubule bundling and nuclear bridging in inner centromere protein gene (Incenp)-disrupted mice.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1145, doi. 10.1093/hmg/8.7.1145
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Ultrastructural localization and progressive formation of neuropil aggregates in Huntington's disease transgenic mice.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1227, doi. 10.1093/hmg/8.7.1227
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Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1185, doi. 10.1093/hmg/8.7.1185
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New gene family defined by MORC, a nuclear protein required for mouse spermatogenesis.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 201, doi. 10.1093/hmg/8.7.1201
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Identification of survival motor neuron as a transcriptional activator-binding protein.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1219, doi. 10.1093/hmg/8.7.1219
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Expression of human F8B, a gene nested within the coagulation factor VIII gene, produces multiple eye defects and developmental alterations in chimeric and transgenic mice.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1291, doi. 10.1093/hmg/8.7.1291
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Up71 and Up140, two novel transcripts of utrophin that are homologues of short forms of dystrophin.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1271, doi. 10.1093/hmg/8.7.1271
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- Article
The cytotoxic T lymphocyte antigen-4 is a major Graves' disease locus.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1195, doi. 10.1093/hmg/8.7.1195
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- Article
A missense mutation in connexin26, D66H, cases mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1237, doi. 10.1093/hmg/8.7.1237
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Presenilins interact with Rab 11, a small GTPase involved in the regulation of vesicular transport.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1263, doi. 10.1093/hmg/8.7.1263
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A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3'-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1253, doi. 10.1093/hmg/8.7.1253
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- Article
Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1309, doi. 10.1093/hmg/8.7.1309
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Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1321, doi. 10.1093/hmg/8.7.1321
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High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1169, doi. 10.1093/hmg/8.7.1169
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Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1329, doi. 10.1093/hmg/8.7.1329
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Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1303, doi. 10.1093/hmg/8.7.1303
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Multipoint analysis of human chromosome 11p15/mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene specificity of H19 silencing in Wilms' tumorigenesis and methylation hyper-dependence of H19 imprinting.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1337, doi. 10.1093/hmg/8.7.1337
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LIT1, an imprinted antisense RNA in the human KvLQT1 locus indentified by screening for differntially expressed transcripts using monochromosomal hybrids.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1209, doi. 10.1093/hmg/8.7.1209
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Allelic and locus heterogeneity in inherited venous malformations.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1279, doi. 10.1093/hmg/8.7.1279
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A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1177, doi. 10.1093/hmg/8.7.1177
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A common molecular basis for rearrangement disorders on chromosome 22q11.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1157, doi. 10.1093/hmg/8.7.1157
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Extensive gene order differences within regions of conserved synteny between the Fugu and human genomes: implications for chromosomal evolution and the cloning of disease genes.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1313, doi. 10.1093/hmg/8.7.1313
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