| Item Type | Name |
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Academic Article
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Conservation of synteny between the genome of the pufferfish (Fugu rubripes) and the region on human chromosome 14 (14q24.3) associated with familial Alzheimer disease (AD3 locus)
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Academic Article
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Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35.
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Academic Article
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Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.
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Academic Article
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Cloning and characterization of the Drosophila presenilin homologue.
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Academic Article
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[Rapid isolation of CpG-islands by PCR-amplification of genomic DNA fragments using a "CpG-enriched" primer].
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Academic Article
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[Presenilins: detection and characterization of Alzheimer's disease genes].
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Academic Article
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[An attempt to locate the gene for congenital cataracts using linkage analysis].
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Academic Article
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[Study of alpha-satellite DNA in cosmid libraries, specific for chromosomes 13, 21, and 22, using fluorescence in situ hybridization].
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Academic Article
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Cholesterol 25-hydroxylase on chromosome 10q is a susceptibility gene for sporadic Alzheimer's disease.
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Academic Article
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Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.
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Academic Article
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Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia.
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Academic Article
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Human-specific histone methylation signatures at transcription start sites in prefrontal neurons.
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Academic Article
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[Structural analysis of alphoid DNA of primates. I. Heterogeneity of nucleotide sequence of alphoid repeats in human DNA].
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Academic Article
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Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes.
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Academic Article
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Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
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Academic Article
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Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease.
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Academic Article
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Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease.
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Academic Article
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Unusual variability of the complex dinucleotide repeat block at the SPN locus.
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Academic Article
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An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene.
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Academic Article
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Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.
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Academic Article
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MicroRNA in schizophrenia: genetic and expression analysis of miR-130b (22q11).
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Academic Article
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Decreased rate of evolution in Y chromosome STR loci of increased size of the repeat unit.
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Academic Article
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[Mapping the gene for palmoplantar hyperkeratosis (thylosis) to chromosome 17 in the 17q12-q24 region].
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Academic Article
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Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
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Academic Article
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Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14.
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Academic Article
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[Molecular genetics of the human brain].
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Academic Article
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[Further analysis of location of the gene for inborn dominant Nochurli cataract].
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Academic Article
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[Mapping of the dominant gene of hyperkeratosis palmaris et plantaris in man].
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Academic Article
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A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene.
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Concept
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Chromosomes, Human, Pair 16
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Concept
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Chromosomes, Human, Pair 18
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Concept
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Chromosomes, Human, Pair 17
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Concept
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Chromosomes, Human, Pair 10
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Concept
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Chromosomes, Human, Pair 9
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Concept
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Chromosomes, Human, Pair 22
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Concept
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Chromosomes, Human, Pair 14
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Concept
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Chromosomes, Human, Pair 1
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Concept
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Chromosomes, Human, Pair 3
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Concept
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Chromosomes, Human, Pair 21
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Concept
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Chromosomes, Human, Pair 8
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Concept
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Chromosome Mapping
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Concept
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Chromosome Aberrations
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Concept
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Chromosomes, Human, Pair 2
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Concept
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Chromosomes, Human, Pair 13
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Academic Article
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Clusters of alpha satellite on human chromosome 21 are dispersed far onto the short arm and lack ancient layers.
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Academic Article
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[Direct detection of loci with pathologic trinucleotide repeats in diseases with anticipation].
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Academic Article
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Species specific variant of human centromeric DNA repeats: localization on chromosome 18 and recent amplification in human ancestral line.
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Academic Article
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[Interindividual hyperpolymorphism of autosomal satellites III of human DNA].
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Academic Article
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Complete genomic and epigenetic maps of human centromeres.
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Academic Article
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Mosaic loss of the Y chromosome in human neurodegenerative and oncological diseases.
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