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106 results

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Page 1
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
Zhao Y, Wang Y, Shi L, McDonald-McGinn DM, Crowley TB, McGinn DE, Tran OT, Miller D, Lin JR, Zackai E, Johnston HR, Chow EWC, Vorstman JAS, Vingerhoets C, van Amelsvoort T, Gothelf D, Swillen A, Breckpot J, Vermeesch JR, Eliez S, Schneider M, van den Bree MBM, Owen MJ, Kates WR, Repetto GM, Shashi V, Schoch K, Bearden CE, Digilio MC, Unolt M, Putotto C, Marino B, Pontillo M, Armando M, Vicari S, Angkustsiri K, Campbell L, Busa T, Heine-Suñer D, Murphy KC, Murphy D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium (IBBC); Zhang ZD, Goldmuntz E, Gur RE, Emanuel BS, Zheng D, Marshall CR, Bassett AS, Wang T, Morrow BE. Zhao Y, et al. Among authors: breckpot j. NPJ Genom Med. 2023 Jul 18;8(1):17. doi: 10.1038/s41525-023-00363-y. NPJ Genom Med. 2023. PMID: 37463940 Free PMC article.
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.
Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'Lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DR; UK10K Consortium; Wilson DI, Mital S, Hurles ME. Al Turki S, et al. Among authors: breckpot j. Am J Hum Genet. 2016 Mar 3;98(3):592. doi: 10.1016/j.ajhg.2016.02.016. Epub 2016 Mar 3. Am J Hum Genet. 2016. PMID: 28863274 Free PMC article. No abstract available.
Proceedings of the 13th International Newborn Brain Conference: Fetal and/or neonatal brain development, both normal and abnormal.
Abdi K, Abramsky R, Andescavage N, Bambi J, Basu S, Bearer C, Benner EJ, Biselele T, Bliznyuk N, Breckpot J, Carey G, Chao A, Christiansen LI, Comani S, Croce P, De Vos M, Dereymaeker A, Dubois L, Eisch AJ, Epstein A, Geva N, Geva Y, Gewillig M, Gillis S, Goldberg RN, Gram M, Gregory S, Guez-Barber D, Hayakawa M, Henriksen NL, Hermans T, Hershkovitz R, Holgersen K, Holmqvist B, Jain V, Jansen K, Kandula V, Kapse K, Kawaguchi M, Khair A, Khazaei M, Kidokoro H, Kiffer FC, Kisilewicz K, Kumai S, Lacaille H, Ley D, Limperopoulos C, Lindholm SEH, Lukusa P, Lundberg R, MacFarlane P, Matak P, Mavinga L, Mayer C, Mbayabo G, Mitsumatsu T, Mubungu G, Murnick J, Nakata T, Narita H, Nataraj P, Natsume J, Naulaers G, Nikam R, Ortenlöf N, Ottolini K, Pan X, Pankratova S, Pegram K, Penn AA, Pradhan S, Raeisi K, Rickman N, Rikard B, Rotem R, Sangild PT, Sato Y, Sawamura F, Shany E, Shelef I, Shiraki A, Smets L, Sura L, Suzui R, Suzuki T, Tady BP, Taga G, Tamburro G, Thewissen L, Thompson JW, Thymann T, Tokat C, Vacher CM, Valdes C, Vallius S, Vatolin S, Watanabe H, Weintraub AY, Weiss M, Yamamoto H, Yaniv SS, Younge N, Yun S, Zappasodi F. Abdi K, et al. Among authors: breckpot j. J Neonatal Perinatal Med. 2022;15(2):411-426. doi: 10.3233/NPM-229002. J Neonatal Perinatal Med. 2022. PMID: 35431185 No abstract available.
Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls.
Mamasoula C, Prentice RR, Pierscionek T, Pangilinan F, Mills JL, Druschel C, Pass K, Russell MW, Hall D, Töpf A, Brown DL, Zelenika D, Bentham J, Cosgrove C, Bhattacharya S, Riveron JG, Setchfield K, Brook JD, Bu'Lock FA, Thornborough C, Rahman TJ, Doza JP, Tan HL, O'Sullivan J, Stuart AG, Blue G, Winlaw D, Postma AV, Mulder BJ, Zwinderman AH, van Engelen K, Moorman AF, Rauch A, Gewillig M, Breckpot J, Devriendt K, Lathrop GM, Farrall M, Goodship JA, Cordell HJ, Brody LC, Keavney BD. Mamasoula C, et al. Among authors: breckpot j. Circ Cardiovasc Genet. 2013 Aug;6(4):347-53. doi: 10.1161/CIRCGENETICS.113.000191. Epub 2013 Jul 22. Circ Cardiovasc Genet. 2013. PMID: 23876493 Free PMC article.
Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI.
Jacobs J, Van Aelst L, Breckpot J, Corveleyn A, Kuiperi C, Dupont M, Heggermont W, De Vadder K, Willems R, Van Cleemput J, Bogaert JG, Robyns T. Jacobs J, et al. Among authors: breckpot j. Eur J Hum Genet. 2023 Nov;31(11):1323-1332. doi: 10.1038/s41431-023-01357-1. Epub 2023 Apr 10. Eur J Hum Genet. 2023. PMID: 37032351 Free PMC article.
106 results