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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: haak mc. Genet Med. 2023 Feb;25(2):100004. doi: 10.1016/j.gim.2022.100004. Genet Med. 2023. PMID: 36745127 Free PMC article. No abstract available.
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.
de Koning MA, Pimienta Ramirez PA, Haak MC, Han X, Ruiterkamp-Versteeg MH, de Leeuw N, Schatz UA, Shoukier M, Rieger-Fackeldey E, Ortiz JU, van Duinen SG, Klein WM, Witlox RSGM, Finnell RH, Santen GWE, Lei Y, Suerink M. de Koning MA, et al. Among authors: haak mc. J Med Genet. 2024 Feb 22:jmg-2023-109698. doi: 10.1136/jmg-2023-109698. Online ahead of print. J Med Genet. 2024. PMID: 38272662
Morbidity and mortality in premature or low birth weight patients with congenital heart disease in three European pediatric heart centers between 2016 and 2020.
De Silvestro A, Reich B, Bless S, Sieker J, Hollander W, de Bijl-Marcus K, Hagmann C, Nijman J, Knirsch W; European Association Brain in Congenital Heart Disease. De Silvestro A, et al. Front Pediatr. 2024 Apr 11;12:1323430. doi: 10.3389/fped.2024.1323430. eCollection 2024. Front Pediatr. 2024. PMID: 38665378 Free PMC article.
Placental Pathology Contributes to Impaired Volumetric Brain Development in Neonates With Congenital Heart Disease.
Nijman M, van der Meeren LE, Nikkels PGJ, Stegeman R, Breur JMPJ, Jansen NJG, Ter Heide H, Steenhuis TJ, de Heus R, Bekker MN, Claessens NHP, Benders MJNL; CHD LifeSpan Study Group ‡. Nijman M, et al. J Am Heart Assoc. 2024 Mar 5;13(5):e033189. doi: 10.1161/JAHA.123.033189. Epub 2024 Feb 29. J Am Heart Assoc. 2024. PMID: 38420785 Free PMC article.
187 results