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104 results

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Page 1
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. Garavelli L, et al. Among authors: breckpot j. Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10. Genet Med. 2017. PMID: 27831545 Free PMC article.
Cell-free DNA methylome analysis for early preeclampsia prediction.
De Borre M, Che H, Yu Q, Lannoo L, De Ridder K, Vancoillie L, Dreesen P, Van Den Ackerveken M, Aerden M, Galle E, Breckpot J, Van Keirsbilck J, Gyselaers W, Devriendt K, Vermeesch JR, Van Calsteren K, Thienpont B. De Borre M, et al. Among authors: breckpot j. Nat Med. 2023 Sep;29(9):2206-2215. doi: 10.1038/s41591-023-02510-5. Epub 2023 Aug 28. Nat Med. 2023. PMID: 37640858
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.
Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants.
Verbesselt J, Solot CB, Van Den Heuvel E, Crowley TB, Giunta V, Breckpot J, McDonald-McGinn DM, Zink I, Swillen A. Verbesselt J, et al. Among authors: breckpot j. Genes (Basel). 2023 Mar 9;14(3):679. doi: 10.3390/genes14030679. Genes (Basel). 2023. PMID: 36980951 Free PMC article.
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM. Blagowidow N, et al. Among authors: breckpot j. Genes (Basel). 2023 Jan 6;14(1):160. doi: 10.3390/genes14010160. Genes (Basel). 2023. PMID: 36672900 Free PMC article. Review.
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Thienpont B, et al. Among authors: breckpot j. J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573. Epub 2009 Oct 14. J Med Genet. 2010. PMID: 19833603
104 results