{ "items": [ "\n\n
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\n Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.\n

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\n \n Journal article\n \n

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Soemedi R. et al, (2012), Am J Hum Genet, 91, 489 - 501

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\n Loss of endothelial furin leads to cardiac malformation and early postnatal death.\n

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\n \n Journal article\n \n

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Kim W. et al, (2012), Mol Cell Biol, 32, 3382 - 3391

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\n Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling.\n

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\n \n Journal article\n \n

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Simrick S. et al, (2012), Dev Dyn, 241, 1310 - 1324

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\n Nprl3 is required for normal development of the cardiovascular system.\n

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\n \n Journal article\n \n

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Kowalczyk MS. et al, (2012), Mamm Genome, 23, 404 - 415

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\n A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.\n

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\n \n Journal article\n \n

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Goodship JA. et al, (2012), Circ Cardiovasc Genet, 5, 287 - 292

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\n Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.\n

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\n \n Journal article\n \n

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Soemedi R. et al, (2012), Hum Mol Genet, 21, 1513 - 1520

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\n Pitx2 confers left morphological, molecular, and functional identity to the sinus venosus myocardium.\n

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\n \n Journal article\n \n

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Ammirabile G. et al, (2012), Cardiovasc Res, 93, 291 - 301

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\n Structure of the DNA-bound T-box domain of human TBX1, a transcription factor associated with the DiGeorge syndrome\n

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\n \n Journal article\n \n

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El Omari K. et al, (2012), Proteins: Structure, Function and Bioinformatics, 80, 655 - 660

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\n Aetiological Role Of Folate Deficiency In Congenital Cardiovascular Malformation: Evidence From \"Mendelian Randomisation\" And Meta-Analysis\n

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\n \n Conference paper\n \n

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Mamasoula C. et al, (2012), GENETIC EPIDEMIOLOGY, 36, 157 - 158

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\n Functional significance of SRJ domain mutations in CITED2.\n

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\n \n Journal article\n \n

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Chen C-M. et al, (2012), PLoS One, 7

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\n High Content Imaging Assay to Study Sprouting Angiogenesis Demonstrates A Key Role for Macrophage Endothelial Cell Interactions\n

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\n \n Conference paper\n \n

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Zen AAH. and Bhattacharya S., (2012), CIRCULATION, 126

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\n High-throughput analysis of mouse embryos by magnetic resonance imaging.\n

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\n \n Journal article\n \n

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Bamforth SD. et al, (2012), Cold Spring Harb Protoc, 2012, 93 - 101

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\n Barbituric acid analogs as therapeutic agents.\n

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\n \n Patent\n \n

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De Belin J. et al, (2011)

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\n Identification of compounds that modify transcriptional responses to hypoxia.\n

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\n \n Patent\n \n

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Livingston DM. et al, (2011)

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\n Novel transcription transactivator protein.\n

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\n \n Patent\n \n

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Bhattacharya S. et al, (2011)

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\n Furin is the major processing enzyme of the cardiac-specific growth factor bone morphogenetic protein 10.\n

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\n \n Journal article\n \n

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Susan-Resiga D. et al, (2011), J Biol Chem, 286, 22785 - 22794

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\n Semi-automatic segmentation of multiple mouse embryos in MR images.\n

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\n \n Journal article\n \n

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Baghdadi L. et al, (2011), BMC Bioinformatics, 12

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\n Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.\n

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\n \n Journal article\n \n

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Engelen E. et al, (2011), Nat Genet, 43, 607 - 611

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\n The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.\n

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\n \n Journal article\n \n

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Cross SH. et al, (2011), Hum Mol Genet, 20, 223 - 234

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\n A comparison of exogenous promoter activity at the ROSA26 locus using a \u03a6iC31 integrase mediated cassette exchange approach in mouse ES cells.\n

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\n \n Journal article\n \n

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Chen C-M. et al, (2011), PLoS One, 6

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