New perspectives for the elucidation of genetic disorders
about
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease geneA systematic approach to mapping recessive disease genes in individuals from outbred populationsHuman genetics and genomics a decade after the release of the draft sequence of the human genomeGenetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disordersExome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisGenetics of hearing loss in Africans: use of next generation sequencing is the best way forwardIntegrated enrichment analysis of variants and pathways in genome-wide association studies indicates central role for IL-2 signaling genes in type 1 diabetes, and cytokine signaling genes in Crohn's diseaseA de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterationsMathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic deviceSNP haplotype mapping in a small ALS familyForging links between human mental retardation-associated CNVs and mouse gene knockout models.Management of High-Throughput DNA Sequencing Projects: Alpheus.Meta-analysis of heterogeneous data sources for genome-scale identification of risk genes in complex phenotypes.Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.Rapid multiplex high resolution melting method to analyze inflammatory related SNPs in preterm birth.A probabilistic method for identifying rare variants underlying complex traitsSingle gene disorders come into focus--again.Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.Integrated genomic analysis of sézary syndromeHigh-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methodsGenetic testing: predictive value of genotyping for diagnosis and management of disease.Genomic patterns of homozygosity in worldwide human populationsOn the future of genetic risk assessment.Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)A multimetric approach to analysis of genome-wide association by single markers and composite likelihood.Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesisAsthma from a pharmacogenomic point of viewStudying copy number variations using a nanofluidic platform.Refining psychiatric genetics: from 'mouse psychiatry' to understanding complex human disordersRevisiting Mendelian disorders through exome sequencing.Is gene discovery research or diagnosis?Mapping DNA quantity into electrophoretic mobility through quantum dot nanotethers for high-resolution genetic and epigenetic analysis.Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.Novel and functional DNA sequence variants within the GATA5 gene promoter in ventricular septal defects.The medical geneticist as expert in the transgenerational and developmental aspects of diseases.Heterogeneity and hypothesis testing in neuropsychiatric illness.Genetics of intellectual disability in consanguineous families.Planning the human variome project: the Spain report.
P2860
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P2860
New perspectives for the elucidation of genetic disorders
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
New perspectives for the elucidation of genetic disorders
@ast
New perspectives for the elucidation of genetic disorders
@en
type
label
New perspectives for the elucidation of genetic disorders
@ast
New perspectives for the elucidation of genetic disorders
@en
prefLabel
New perspectives for the elucidation of genetic disorders
@ast
New perspectives for the elucidation of genetic disorders
@en
P2860
P356
P1476
New perspectives for the elucidation of genetic disorders
@en
P2093
Hans-Hilger Ropers
P2860
P304
P356
10.1086/520679
P407
P577
2007-06-29T00:00:00Z