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pregnancy combined with congenital malformation, deformation and chromosomal abnormality相关文献:
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
van der Meij KRM, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, Bekker MN, Bilardo CM, Boon EMJ, Boter M, Diderich KEM, de Die-Smulders CEM, Duin LK, Faas BHW, Feenstra I, Haak MC, Hoffer MJV, den Hollander NS, Hollink IHIM, Jehee FS, Knapen MFCM, Kooper AJA, van Langen IM, Lichtenbelt KD, Linskens IH, van Maarle MC, Oepkes D, Pieters MJ, Schuring-Blom GH, Sikkel E, Sikkema-Raddatz B, Smeets DFCM, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Ven AJEM, van Zelderen-Bhola SL, Henneman L, Galjaard RH, Van Opstal D, Weiss MM; Dutch NIPT Consortium.
Am J Hum Genet. 2019 Dec 5;105(6):1091-1101. doi: 10.1016/j.ajhg.2019.10.005. Epub 2019 Nov 7.
PMID:31708118
Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis.
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH.
Ultrasound Obstet Gynecol. 2017 Sep;50(3):302-314. doi: 10.1002/uog.17484. Epub 2017 Jul 27.
PMID:28397325
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH.
Ultrasound Obstet Gynecol. 2020 May;55(5):637-644. doi: 10.1002/uog.21956.
PMID:31875326
Where have all the trisomies gone?
Palomaki GE, Lambert-Messerlian GM, Haddow JE.
Am J Obstet Gynecol. 2016 Nov;215(5):583-587.e1. doi: 10.1016/j.ajog.2016.06.046.
PMID:27793310
First Trimester Tricuspid Regurgitation: Clinical Significance.
Teixeira S, Guedes-Martins L.
Curr Cardiol Rev. 2023;19(3):e061222211643. doi: 10.2174/1573403X19666221206115642.
PMID:36475342
Fetal Screening for Chromosomal Abnormalities.
Fiorentino DG, Hughes F.
Neoreviews. 2021 Dec 1;22(12):e805-e818. doi: 10.1542/neo.22-12-e805.
PMID:34850145
Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with NIPT.
Gadsbøll K, Vogel I, Kristensen SE, Pedersen LH, Hyett J, Petersen OB; Danish Cytogenetic Central Register study group.
Ultrasound Obstet Gynecol. 2024 Oct;64(4):470-479. doi: 10.1002/uog.27667. Epub 2024 Sep 4.
PMID:38642365
First-trimester screening-biomarkers and cell-free DNA.
Suciu I, Galeva S, Abdel Azim S, Pop L, Toader O.
J Matern Fetal Neonatal Med. 2021 Dec;34(23):3983-3989. doi: 10.1080/14767058.2019.1698031. Epub 2019 Dec 8.
PMID:31766927
Causes of Congenital Malformations.
Toufaily MH, Westgate MN, Lin AE, Holmes LB.
Birth Defects Res. 2018 Jan;110(2):87-91. doi: 10.1002/bdr2.1105.
PMID:29377643
Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.
Tang F, Zeng Y, Wang L, Yin D, Chen L, Xie D, Wang J.
Mol Genet Genomic Med. 2023 Jun;11(6):e2155. doi: 10.1002/mgg3.2155. Epub 2023 Feb 27.
PMID:36849216
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