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pregnancy combined with mental retardation相关文献:
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
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K.
Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002.
PMID:33157009
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
Carbonic anhydrase II deficiency.
Whyte MP.
Bone. 2023 Apr;169:116684. doi: 10.1016/j.bone.2023.116684. Epub 2023 Jan 27.
PMID:36709914
Study on the Effect of B-Ultrasound NT Scan in Early Pregnancy Combined with Serum Screening in Early and Middle Pregnancy for Down Syndrome.
Li L, Ma C, Sun L.
Comput Math Methods Med. 2022 Oct 13;2022:7517112. doi: 10.1155/2022/7517112. eCollection 2022.
PMID:36277024
CASPR2 autoantibodies are raised during pregnancy in mothers of children with mental retardation and disorders of psychological development but not autism.
Coutinho E, Jacobson L, Pedersen MG, Benros ME, Nørgaard-Pedersen B, Mortensen PB, Harrison PJ, Vincent A.
J Neurol Neurosurg Psychiatry. 2017 Sep;88(9):718-721. doi: 10.1136/jnnp-2016-315251. Epub 2017 Jun 1.
PMID:28572274
[Genetic analysis of a child with mental retardation and hypospadia].
Ma N, Pang J, Peng Y, Jia Z, Xi H, Liu G, Zhou Y, Wang H.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1199-1202. doi: 10.3760/cma.j.issn.1003-9406.2019.12.012.
PMID:31813147
Iodine deficiency as a cause of brain damage.
Delange F.
Postgrad Med J. 2001 Apr;77(906):217-20. doi: 10.1136/pmj.77.906.217.
PMID:11264481
Screening for Down syndrome.
Spencer K.
Scand J Clin Lab Invest Suppl. 2014;244:41-7. doi: 10.3109/00365513.2014.936680.
PMID:25083892
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
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