The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome
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Polymorphic simple sequence repeat regions in chloroplast genomes: applications to the population genetics of pinesGene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20qAlu elements: an intrinsic source of human genome instabilityGenome-wide analysis of the human Alu Yb-lineageMirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype.Simultaneous genotyping of indels and SNPs by mass spectroscopy.Analyses of carnivore microsatellites and their intimate association with tRNA-derived SINEs.Linkage disequilibrium between two highly polymorphic microsatellites.A novel protein isoform of the multicopy human NAIP gene derives from intragenic Alu SINE promoters.Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13qIdentification and characterisation of novel human Y-chromosomal microsatellites from sequence database information.A case of apparent trisomy 21 without the Down's syndrome phenotype.Recently transposed Alu repeats result from multiple source genes.A genetic mapping system in Caenorhabditis elegans based on polymorphic sequence-tagged sites.The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome.Rescuing Alu: recovery of new inserts shows LINE-1 preserves Alu activity through A-tail expansionCarrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry.The abundance of various polymorphic microsatellite motifs differs between plants and vertebrates.3' Alu PCR: a simple and rapid method to isolate human polymorphic markers.Rodent BC1 RNA gene as a master gene for ID element amplification.A genetic map of chromosome 20q12-q13.1: multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locusMaternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.Normal phenotype with paternal uniparental isodisomy for chromosome 21.Oppositely imprinted genes H19 and insulin-like growth factor 2 are coexpressed in human androgenetic trophoblastHereditary overexpression of adenosine deaminase in erythrocytes: evidence for a cis-acting mutation.No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangementsComparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome.Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternalDNA typing and genetic mapping with trimeric and tetrameric tandem repeatsAnalysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocationsLinkage analysis of maturity-onset diabetes of the young (MODY): genetic heterogeneity and nonpenetrance.Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypesA cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26)Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII geneInsertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination.Active Alu element "A-tails": size does matterCharacterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.
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P2860
The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on April 1990
@en
vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
The polydeoxyadenylate tract o ...... olymorphic in the human genome
@en
The polydeoxyadenylate tract o ...... lymorphic in the human genome.
@nl
type
label
The polydeoxyadenylate tract o ...... olymorphic in the human genome
@en
The polydeoxyadenylate tract o ...... lymorphic in the human genome.
@nl
prefLabel
The polydeoxyadenylate tract o ...... olymorphic in the human genome
@en
The polydeoxyadenylate tract o ...... lymorphic in the human genome.
@nl
P2093
P2860
P356
P1476
The polydeoxyadenylate tract o ...... olymorphic in the human genome
@en
P2093
Antonarakis SE
Economou EP
P2860
P304
P356
10.1073/PNAS.87.8.2951
P407
P577
1990-04-01T00:00:00Z