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Journal Abstract Search

229 related items for PubMed ID: 31756055

  • 1. Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.
    Traversa A, Bernardo S, Paiardini A, Giovannetti A, Marchionni E, Genovesi ML, Guadagnolo D, Torres B, Paolacci S, Bernardini L, Mazza T, Carella M, Caputo V, Pizzuti A.
    Mol Genet Genomic Med; 2020 Jan; 8(1):e1054. PubMed ID: 31756055
    [Abstract] [Full Text] [Related]

  • 2. Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
    Shalata A, Lauhasurayotin S, Leibovitz Z, Li H, Hebert D, Dhanraj S, Hadid Y, Mahroum M, Bajar J, Egenburg S, Arad A, Shohat M, Haddad S, Bakry H, Moshiri H, Scherer SW, Tzur S, Dror Y.
    J Med Genet; 2019 May; 56(5):340-346. PubMed ID: 30327448
    [Abstract] [Full Text] [Related]

  • 3. Prenatal diagnosis of Dandy-Walker malformation: report of a case.
    Chen FP, Chu KK.
    J Formos Med Assoc; 1994 May; 93(11-12):967-70. PubMed ID: 7633204
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  • 4. Regional brain development in fetuses with Dandy-Walker malformation: A volumetric fetal brain magnetic resonance imaging study.
    Akiyama S, Madan N, Graham G, Samura O, Kitano R, Yun HJ, Craig A, Nakamura T, Hozawa A, Grant E, Im K, Tarui T.
    PLoS One; 2022 May; 17(2):e0263535. PubMed ID: 35202430
    [Abstract] [Full Text] [Related]

  • 5. Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound imaging (part 1): nomenclature, diagnostic accuracy and associated anomalies.
    D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT.
    Ultrasound Obstet Gynecol; 2016 Jun; 47(6):690-7. PubMed ID: 25970099
    [Abstract] [Full Text] [Related]

  • 6. The fetal dandy walker complex: associated anomalies, perinatal outcome and postnatal imaging.
    Harper T, Fordham LA, Wolfe HM.
    Fetal Diagn Ther; 2007 Jun; 22(4):277-81. PubMed ID: 17369695
    [Abstract] [Full Text] [Related]

  • 7. Diagnosis of a case of Dandy-Walker malformation aided by measurement of the brainstem-vermis angle at 14 weeks gestation.
    Ichizuka K, Mishina M, Hasegawa J, Matsuoka R, Sekizawa A, Pooh RK.
    J Obstet Gynaecol Res; 2015 May; 41(5):790-3. PubMed ID: 25490874
    [Abstract] [Full Text] [Related]

  • 8. Dandy-walker malformation: prenatal diagnosis and outcome.
    Kölble N, Wisser J, Kurmanavicius J, Bolthauser E, Stallmach T, Huch A, Huch R.
    Prenat Diagn; 2000 Apr; 20(4):318-27. PubMed ID: 10740205
    [Abstract] [Full Text] [Related]

  • 9. Differential Diagnoses and Their Implications of Dandy-Walker Malformation or Isolated Cisterna Magna, a Case Study: Baby V.
    Weaver NL, Bradshaw WT, Blake SM.
    Neonatal Netw; 2018 Nov; 37(6):358-364. PubMed ID: 30567885
    [Abstract] [Full Text] [Related]

  • 10. Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic cause.
    Yang CA, Chou IC, Cho DY, Lin CY, Huang HY, Ho YC, Liu TY, Li YH, Chang JG.
    Neurogenetics; 2018 Aug; 19(3):157-163. PubMed ID: 29846820
    [Abstract] [Full Text] [Related]

  • 11. Position of the choroid plexus of the fourth ventricle in first- and second-trimester fetuses: a novel approach to early diagnosis of cystic posterior fossa anomalies.
    Volpe P, De Robertis V, Volpe G, Boito S, Fanelli T, Olivieri C, Votino C, Persico N.
    Ultrasound Obstet Gynecol; 2021 Oct; 58(4):568-575. PubMed ID: 33847428
    [Abstract] [Full Text] [Related]

  • 12. Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counselling.
    Guibaud L, Larroque A, Ville D, Sanlaville D, Till M, Gaucherand P, Pracros JP, des Portes V.
    Prenat Diagn; 2012 Feb; 32(2):185-93. PubMed ID: 22418964
    [Abstract] [Full Text] [Related]

  • 13. Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
    Nabhan MM, ElKhateeb N, Braun DA, Eun S, Saleem SN, YungGee H, Hildebrandt F, Soliman NA.
    Am J Med Genet A; 2017 Oct; 173(10):2697-2702. PubMed ID: 28815891
    [Abstract] [Full Text] [Related]

  • 14. Dandy-Walker malformation diagnosed before 21 weeks of gestation: associated malformations and chromosomal abnormalities.
    Ulm B, Ulm MR, Deutinger J, Bernaschek G.
    Ultrasound Obstet Gynecol; 1997 Sep; 10(3):167-70. PubMed ID: 9339523
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  • 18. Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study.
    Alsehli H, Alshahrani SM, Alzahrani S, Ababneh F, Alharbi NM, Alarfaj N, Baarmah D.
    Sci Rep; 2024 Apr 10; 14(1):8411. PubMed ID: 38600369
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  • 20. Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.
    Linpeng S, Liu J, Pan J, Cao Y, Teng Y, Liang D, Li Z, Wu L.
    Biomed Res Int; 2018 Apr 10; 2018():4032543. PubMed ID: 30581852
    [Abstract] [Full Text] [Related]

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