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Why are congenital heart defects being missed?
van Nisselrooij AEL, Teunissen AKK, Clur SA, Rozendaal L, Pajkrt E, Linskens IH, Rammeloo L, van Lith JMM, Blom NA, Haak MC. van Nisselrooij AEL, et al. Among authors: clur sa. Ultrasound Obstet Gynecol. 2020 Jun;55(6):747-757. doi: 10.1002/uog.20358. Ultrasound Obstet Gynecol. 2020. PMID: 31131945 Free PMC article.
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
van Nisselrooij AEL, Lugthart MA, Clur SA, Linskens IH, Pajkrt E, Rammeloo LA, Rozendaal L, Blom NA, van Lith JMM, Knegt AC, Hoffer MJV, Aten E, Santen GWE, Haak MC. van Nisselrooij AEL, et al. Among authors: clur sa. Genet Med. 2020 Jul;22(7):1206-1214. doi: 10.1038/s41436-020-0791-8. Epub 2020 Apr 28. Genet Med. 2020. PMID: 32341573 Free PMC article.
Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case.
Bruyndonckx L, Vogelzang JL, Bugiani M, Straver B, Kuipers IM, Onland W, Nannenberg EA, Clur SA, van der Crabben SN. Bruyndonckx L, et al. Among authors: clur sa. Am J Med Genet A. 2021 Aug;185(8):2464-2470. doi: 10.1002/ajmg.a.62231. Epub 2021 May 5. Am J Med Genet A. 2021. PMID: 33949776 Free PMC article. Review.
Pregnancy complications in singleton pregnancies with isolated fetal heart defects.
van Velzen CL, Türkeri F, Pajkrt E, Clur SA, Rijlaarsdam ME, Bax CJ, Hruda J, de Groot CJ, Blom NA, Haak MC. van Velzen CL, et al. Among authors: clur sa. Acta Obstet Gynecol Scand. 2016 Nov;95(11):1273-1280. doi: 10.1111/aogs.12955. Epub 2016 Sep 1. Acta Obstet Gynecol Scand. 2016. PMID: 27496177 Free article.
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
Lahrouchi N, Postma AV, Salazar CM, De Laughter DM, Tjong F, Piherová L, Bowling FZ, Zimmerman D, Lodder EM, Ta-Shma A, Perles Z, Beekman L, Ilgun A, Gunst Q, Hababa M, Škorić-Milosavljević D, Stránecký V, Tomek V, de Knijff P, de Leeuw R, Robinson JY, Burn SC, Mustafa H, Ambrose M, Moss T, Jacober J, Niyazov DM, Wolf B, Kim KH, Cherny S, Rousounides A, Aristidou-Kallika A, Tanteles G, Ange-Line B, Denommé-Pichon AS, Francannet C, Ortiz D, Haak MC, Ten Harkel AD, Manten GT, Dutman AC, Bouman K, Magliozzi M, Radio FC, Santen GW, Herkert JC, Brown HA, Elpeleg O, van den Hoff MJ, Mulder B, Airola MV, Kmoch S, Barnett JV, Clur SA, Frohman MA, Bezzina CR. Lahrouchi N, et al. Among authors: clur sa. J Clin Invest. 2021 Mar 1;131(5):e142148. doi: 10.1172/JCI142148. J Clin Invest. 2021. PMID: 33645542 Free PMC article.
Factors related to fetal demise in cases with congenital heart defects.
Snoep MC, Bet BB, Zwanenburg F, Knobbe I, Linskens IH, Pajkrt E, Rozendaal L, Van der Meeren LE, Clur SA, Haak MC. Snoep MC, et al. Among authors: clur sa. Am J Obstet Gynecol MFM. 2023 Aug;5(8):101023. doi: 10.1016/j.ajogmf.2023.101023. Epub 2023 May 21. Am J Obstet Gynecol MFM. 2023. PMID: 37220848 Free article.
121 results