Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 2
Results: 27
Sequences flanking the centromere ofhuman chromosome 10 are a complex patchworkof arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 205, doi. 10.1093/hmg/8.2.205
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Expression of the von Hippel-Lindau-binding protein-1 (Vbp1) in fetal and adult mouse tissues.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 229, doi. 10.1093/hmg/8.2.229
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Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 247, doi. 10.1093/hmg/8.2.247
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A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 345, doi. 10.1093/hmg/8.2.345
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Thiopurine methyltransferase alleles in British and Ghanaian populations.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 367, doi. 10.1093/hmg/8.2.367
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Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 165, doi. 10.1093/hmg/8.2.165
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Association of ulcerative colitis with rare VNTR alleles of the human intestinal mucin gene, MUC3.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 307, doi. 10.1093/hmg/8.2.307
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Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 353, doi. 10.1093/hmg/8.2.353
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Sequence analysis of an 80 kb human neocentromere.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 217, doi. 10.1093/hmg/8.2.217
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Increased expression of the NF2 tumor suppressor gene product, merlin, impairs cell motility, adhesionand spreading.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 267, doi. 10.1093/hmg/8.2.267
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Isolation and characterization of human Patched 2(PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 291, doi. 10.1093/hmg/8.2.291
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Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 299, doi. 10.1093/hmg/8.2.299
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The β3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 323, doi. 10.1093/hmg/8.2.323
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Xist RNA exhibits a banded localization on the inactive X chromosome and is excluded from autosomal material in cis.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 195, doi. 10.1093/hmg/8.2.195
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Analysis of germline mutation spectra at the Huntington's disease locus supports amitotic mutation mechanism.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 173, doi. 10.1093/hmg/8.2.173
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The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and containsan upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 337, doi. 10.1093/hmg/8.2.337
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Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 313
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Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 157, doi. 10.1093/hmg/8.2.157
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AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 277, doi. 10.1093/hmg/8.2.277
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Localization of the APECED protein in distinct nuclear structures.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 259, doi. 10.1093/hmg/8.2.259
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PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignancies.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 185, doi. 10.1093/hmg/8.2.185
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Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population:a population-based survey.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 331, doi. 10.1093/hmg/8.2.331
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A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 361, doi. 10.1093/hmg/8.2.361
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Polymorphism of the thiopurine S-methyltransferase gene in African-Americans.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 371, doi. 10.1093/hmg/8.2.371
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A full genome scan for late onset Alzheimer's disease.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 237, doi. 10.1093/hmg/8.2.237
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Repetitive conundrums of centromere structureand function.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 151, doi. 10.1093/hmg/8.2.151
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H4 acetylation, XIST RNA and replication timing are coincident and define X;autosome boundaries in two abnormal X chromosomes.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 377, doi. 10.1093/hmg/8.2.377
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