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Page 1
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T; German Competence Network for Congenital Heart Defects; Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Among authors: brook d. Genet Med. 2021 Oct;23(10):2013. doi: 10.1038/s41436-021-01279-7. Genet Med. 2021. PMID: 34522030 Free PMC article. No abstract available.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T; German Competence Network for Congenital Heart Defects; Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Among authors: brook d. Genet Med. 2021 Oct;23(10):1952-1960. doi: 10.1038/s41436-021-01212-y. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113005 Free PMC article.
A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.
Goodship JA, Hall D, Topf A, Mamasoula C, Griffin H, Rahman TJ, Glen E, Tan H, Palomino Doza J, Relton CL, Bentham J, Bhattacharya S, Cosgrove C, Brook D, Granados-Riveron J, Bu'Lock FA, O'Sullivan J, Stuart AG, Parsons J, Cordell HJ, Keavney B. Goodship JA, et al. Among authors: brook d. Circ Cardiovasc Genet. 2012 Jun;5(3):287-92. doi: 10.1161/CIRCGENETICS.111.962035. Epub 2012 Apr 13. Circ Cardiovasc Genet. 2012. PMID: 22503907 Free PMC article.
Alpha-cardiac actin mutations produce atrial septal defects.
Matsson H, Eason J, Bookwalter CS, Klar J, Gustavsson P, Sunnegårdh J, Enell H, Jonzon A, Vikkula M, Gutierrez I, Granados-Riveron J, Pope M, Bu'Lock F, Cox J, Robinson TE, Song F, Brook DJ, Marston S, Trybus KM, Dahl N. Matsson H, et al. Hum Mol Genet. 2008 Jan 15;17(2):256-65. doi: 10.1093/hmg/ddm302. Epub 2007 Oct 18. Hum Mol Genet. 2008. PMID: 17947298
Transcriptome alterations in myotonic dystrophy skeletal muscle and heart.
Wang ET, Treacy D, Eichinger K, Struck A, Estabrook J, Olafson H, Wang TT, Bhatt K, Westbrook T, Sedehizadeh S, Ward A, Day J, Brook D, Berglund JA, Cooper T, Housman D, Thornton C, Burge C. Wang ET, et al. Among authors: brook d. Hum Mol Genet. 2019 Apr 15;28(8):1312-1321. doi: 10.1093/hmg/ddy432. Hum Mol Genet. 2019. PMID: 30561649 Free PMC article.
Gene mapping and myotonic dystrophy.
Harper PS, Shaw D, Meredith L, Sarfarazi M, Brook D, Huson S. Harper PS, et al. Among authors: brook d. Prog Clin Biol Res. 1985;177:61-76. Prog Clin Biol Res. 1985. PMID: 2989839 No abstract available.
253 results