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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/oup/periodical/hmg/2003/volume_12
has manifestation of work	http://hub.abes.fr/oup/periodical/hmg/2003/volume_12/issue_24/m/print http://hub.abes.fr/oup/periodical/hmg/2003/volume_12/issue_24/m/web
Date Copyrighted	2003
issue	24
is Is Part Of of	Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11 Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension Reduction in frataxin causes progressive accumulation of mitochondrial damage Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis Phosphorylation influences the translation state of FMRP-associated polyribosomes Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis Autophagy regulates the processing of amino terminal huntingtin fragments Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas Promoter-restricted H3 Lys 4 di-methylation is an epigenetic mark for monoallelic expression Classifying the estrogen receptor status of breast cancers by expression profiles reveals a poor prognosis subpopulation exhibiting high expression of the ERBB2 receptor Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns−/−) produced by targeted disruption of the gene defective in Morquio A disease Impact of selection, mutation rate and genetic drift on human genetic variation Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)

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