Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.
about
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.Single-gene disorders: what role could moonlighting enzymes play?DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.Moonlighting function of glycerol kinase causes systems-level changes in rat hepatoma cellsCFTR mutation analysis and haplotype associations in CF patientsDAX1: Increasing complexity in the roles of this novel nuclear receptorClinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlationFunctional analysis of mutations in TGIF associated with holoprosencephaly.Firing up the nature/nurture controversy: bioethics and genetic determinismLoss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like diseaseNew insights from monogenic diabetes for "common" type 2 diabetesHoloprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humansHsp90 selectively modulates phenotype in vertebrate developmentMechanisms and consequences of somatic mosaicism in humansA mutation in SCARB2 is a modifier in Gaucher diseaseGene preference in maple syrup urine disease.Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.Epidemiological survey of idiopathic scoliosis and sequence alignment analysis of multiple candidate genes.Identifying modifier loci in existing genome scan dataAnalysis of heterogeneity and epistasis in physiological mixed populations by combined structural equation modelling and latent class analysis.Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis.The impact of genomic neighborhood on the evolution of human and chimpanzee transcriptome.Disease-associated pathophysiologic structures in pediatric rheumatic diseases show characteristics of scale-free networks seen in physiologic systems: implications for pathogenesis and treatment.Finding unique filter sets in PLATO: a precursor to efficient interaction analysis in GWAS data.In silico and functional studies of the regulation of the glucocerebrosidase gene.Saturation of the human phenomeVariable expressivity and mutation databases: The androgen receptor gene mutations database.Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.Global metabolic effects of glycerol kinase overexpression in rat hepatoma cells.Holoprosencephaly: a guide to diagnosis and clinical managementFunctional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.Update and perspectives on congenital disorders of glycosylation.Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].Quantitative analyses link modulation of sonic hedgehog signaling to continuous variation in facial growth and shapeGlycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genes.Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.Medical genetics: 3. An approach to the adult with a genetic disorder.Sodium channels and neurological disease: insights from Scn8a mutations in the mouse.
P2860
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P2860
Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
Phenotypes of patients with "s ...... difiers, and systems dynamics.
@en
Phenotypes of patients with "s ...... difiers, and systems dynamics.
@nl
type
label
Phenotypes of patients with "s ...... difiers, and systems dynamics.
@en
Phenotypes of patients with "s ...... difiers, and systems dynamics.
@nl
altLabel
Phenotypes of patients with "s ...... odifiers, and systems dynamics
@en
prefLabel
Phenotypes of patients with "s ...... difiers, and systems dynamics.
@en
Phenotypes of patients with "s ...... difiers, and systems dynamics.
@nl
P356
P1476
Phenotypes of patients with "s ...... difiers, and systems dynamics.
@en
P2093
E R McCabe
K M Dipple
P304
P356
10.1086/302938
P407
P577
2000-05-01T00:00:00Z