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Journal Abstract Search

240 related items for PubMed ID: 33494995

  • 21. Molecular cytogenetic characterization of del(X)(p22.33)mat and de novo dup(4)(q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly.
    Chen CP, Huang JP, Chen YY, Chen SW, Chern SR, Wu PS, Wu FT, Pan YT, Chen WL, Pan CW, Wang W.
    Taiwan J Obstet Gynecol; 2023 May; 62(3):453-456. PubMed ID: 37188453
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  • 27. Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.
    Schindewolf E, Khalek N, Johnson MP, Gebb J, Coleman B, Crowley TB, Zackai EH, McDonald-McGinn DM, Moldenhauer JS.
    Am J Med Genet A; 2018 Aug; 176(8):1735-1741. PubMed ID: 30055034
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  • 29. Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction.
    Chen CP, Su YN, Chen YY, Chern SR, Liu YP, Wu PC, Lee CC, Chen YT, Wang W.
    Taiwan J Obstet Gynecol; 2011 Sep; 50(3):345-52. PubMed ID: 22030051
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  • 30. Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.
    Chen M, Yang YS, Shih JC, Lin WH, Lee DJ, Lin YS, Chou CH, Cameron AD, Ginsberg NA, Chen CA, Lee ML, Ma GC.
    Ultrasound Obstet Gynecol; 2014 Apr; 43(4):396-403. PubMed ID: 23828768
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  • 31. Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome.
    Chen CP, Ko TM, Chen YY, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Chen WL, Pan CW, Wang W.
    Taiwan J Obstet Gynecol; 2020 Sep; 59(5):754-757. PubMed ID: 32917331
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  • 33. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 3.
    Chen CP, Ko TM, Chen CY, Chern SR, Wu PS, Chen SW, Wu FT, Pan CW, Wang W.
    Taiwan J Obstet Gynecol; 2019 Nov; 58(6):864-868. PubMed ID: 31759544
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  • 34. Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.
    Ron HA, Crowley TB, Liu Y, Unolt M, Schindewolf E, Moldenhauer J, Rychik J, Goldmuntz E, Emanuel BS, Ryba D, Gaynor JW, Zackai EH, Hakonarson H, McDonald-McGinn DM.
    Genes (Basel); 2022 Dec 24; 14(1):. PubMed ID: 36672801
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  • 37. Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum.
    Chen CP, Hsu CY, Chern SR, Wu PS, Chen SW, Wang W.
    Taiwan J Obstet Gynecol; 2020 Jan 24; 59(1):127-129. PubMed ID: 32039780
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  • 38. Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1.
    Chen CP, Chen SW, Chern SR, Wu PS, Wu FT, Pan YT, Pan CW, Wang W.
    Taiwan J Obstet Gynecol; 2022 Nov 24; 61(6):1044-1047. PubMed ID: 36427971
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  • 39. Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality.
    Chen CP, Fu CH, Lin YH, Chern SR, Wu PS, Chen YN, Chen SW, Wang W.
    Taiwan J Obstet Gynecol; 2016 Dec 24; 55(6):871-873. PubMed ID: 28040137
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