Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome.
about
Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer diseaseAn investigation of modifying effects of metallothionein single-nucleotide polymorphisms on the association between mercury exposure and biomarker levelsHuman Oct3 gene family: cDNA sequences, alternative splicing, gene organization, chromosomal location, and expression at low levels in adult tissuesMutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humainA frameshift polymorphism in P2X5 elicits an allogeneic cytotoxic T lymphocyte response associated with remission of chronic myeloid leukemia.A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass traitThe human Major Histocompatibility Complex as a paradigm in genomics researchThe human DNA polymerase beta gene structure. Evidence of alternative splicing in gene expressionA 3-Mb contig from D11S987 to MLK3, a gene-rich region in 11q13A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibilityFine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophreniaInferential genotyping of Y chromosomes in Latter-Day Saints founders and comparison to Utah samples in the HapMap projectIdentification of a polymorphic gene, BCL2A1, encoding two novel hematopoietic lineage-specific minor histocompatibility antigensAutosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish originComplete sequencing shows a role for MSX1 in non-syndromic cleft lip and palateGenetic mapping of the beta 1 GABA receptor gene to human chromosome 4, using a tetranucleotide repeat polymorphismGenetic mapping of the human tryptophan hydroxylase gene on chromosome 11, using an intronic conformational polymorphismSNPdetector: a software tool for sensitive and accurate SNP detection.A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathyIntegrating ethics and science in the International HapMap ProjectSchizophrenia susceptibility loci on chromosomes 13q32 and 8p21Pharmacogenomic discovery using cell-based modelsGenetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell linesIdentification and replication of loci involved in camptothecin-induced cytotoxicity using CEPH pedigreesGenotype imputationDescent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statisticsGenetic analysis of genome-wide variation in human gene expressionFaster sequential genetic linkage computationsPrevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesHigh-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometryEstimating the frequency distribution of crossovers during meiosis from recombination data.Analysis of genome-wide RNA-sequencing data suggests age of the CEPH/Utah (CEU) lymphoblastoid cell lines systematically biases gene expression profiles.Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs.Disentangling linkage disequilibrium and linkage from dense single-nucleotide polymorphism trio data.A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.Identification and genetic mapping of a homeobox gene to the 4p16.1 region of human chromosome 4Genomic structure of the human prion protein gene.Extended homozygosity is not usually due to cytogenetic abnormality.
P2860
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P2860
Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome.
description
1990 nî lūn-bûn
@nan
1990年の論文
@ja
1990年学术文章
@wuu
1990年学术文章
@zh-cn
1990年学术文章
@zh-hans
1990年学术文章
@zh-my
1990年学术文章
@zh-sg
1990年學術文章
@yue
1990年學術文章
@zh
1990年學術文章
@zh-hant
name
Centre d'etude du polymorphism ...... c mapping of the human genome.
@en
Centre d'etude du polymorphisme humain
@nl
type
label
Centre d'etude du polymorphism ...... c mapping of the human genome.
@en
Centre d'etude du polymorphisme humain
@nl
prefLabel
Centre d'etude du polymorphism ...... c mapping of the human genome.
@en
Centre d'etude du polymorphisme humain
@nl
P2093
P50
P1433
P1476
Centre d'etude du polymorphism ...... c mapping of the human genome.
@en
P2093
P304
P356
10.1016/0888-7543(90)90491-C
P577
1990-03-01T00:00:00Z