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Stanier, Philippe
One or more keywords matched the following items that are connected to Stanier, Philippe
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Academic Article High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.
Academic Article Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Academic Article Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse.
Academic Article Evaluation of allelic expression of imprinted genes in adult human blood.
Academic Article DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed.
Academic Article Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.
Academic Article Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
Academic Article Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression.
Academic Article Investigation of the Annexin A5 M2 haplotype in 500 white European couples who have experienced recurrent spontaneous abortion.
Academic Article The speech gene FOXP2 is not imprinted.
Academic Article Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.
Academic Article Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing.
Academic Article Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice.
Academic Article Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
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