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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/oup/periodical/hmg/2009/volume_18
has manifestation of work	http://hub.abes.fr/oup/periodical/hmg/2009/volume_18/issue_12/m/web http://hub.abes.fr/oup/periodical/hmg/2009/volume_18/issue_12/m/print
Date Copyrighted	2009
Rights	© The Author 2009. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org © The Author 2009. Published by Oxford University Press. © 2009 The Author(s)
issue	12
Access Rights	creative-commons
is Is Part Of of	SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors Inverted duplications on acentric markers: mechanism of formation Contents Page Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk Large-scale analysis of exonized mammalian-wide interspersed repeats in primate genomes Subscription Page Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations Astrocytic protection of spinal motor neurons but not cortical neurons against loss of Als2/alsin function Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate Editorial Board Correlation of expression and methylation of imprinted genes with pluripotency of parthenogenetic embryonic stem cells Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT2CR-mediated behaviour Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1 Cover Page

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