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Journal Abstract Search

198 related items for PubMed ID: 33168220

  • 1. Dandy-Walker Malformation.
    Society for Maternal-Fetal Medicine (SMFM), Monteagudo A.
    Am J Obstet Gynecol; 2020 Dec; 223(6):B38-B41. PubMed ID: 33168220
    [No Abstract] [Full Text] [Related]

  • 2. A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.
    Zhang YW, Qu HB, Long N, Leng XY, Liu YQ, Yang Y.
    Mol Genet Genomics; 2021 Jan; 296(1):33-40. PubMed ID: 32944789
    [Abstract] [Full Text] [Related]

  • 3. Magnetic resonance imaging of Joubert syndrome associated with Dandy-Walker malformation: pathognomonic imaging.
    Habi J, Mahi M.
    Pan Afr Med J; 2022 Jan; 42():55. PubMed ID: 35949461
    [No Abstract] [Full Text] [Related]

  • 4. Posterior brain in fetuses with Dandy-Walker malformation with complete agenesis of the cerebellar vermis at 11-13 weeks: a pilot study.
    Lachmann R, Sinkovskaya E, Abuhamad A.
    Prenat Diagn; 2012 Aug; 32(8):765-9. PubMed ID: 22674727
    [Abstract] [Full Text] [Related]

  • 5. Hindbrain morphometry and choroid plexus position in differential diagnosis of posterior fossa cystic malformations.
    Paladini D, Donarini G, Parodi S, Volpe G, Sglavo G, Fulcheri E.
    Ultrasound Obstet Gynecol; 2019 Aug; 54(2):207-214. PubMed ID: 30207001
    [Abstract] [Full Text] [Related]

  • 6. Prenatal diagnosis of Joubert syndrome: A case report and literature review.
    Zhu L, Xie L.
    Medicine (Baltimore); 2017 Dec; 96(51):e8626. PubMed ID: 29390414
    [Abstract] [Full Text] [Related]

  • 7. Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.
    Stembalska A, Rydzanicz M, Pollak A, Kostrzewa G, Stawinski P, Biela M, Ploski R, Smigiel R.
    Genes (Basel); 2021 Jul 16; 12(7):. PubMed ID: 34356094
    [Abstract] [Full Text] [Related]

  • 8. Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).
    Al-Qattan MM, Shaheen R, Alkuraya FS.
    Am J Med Genet A; 2017 Sep 16; 173(9):2439-2441. PubMed ID: 28631893
    [Abstract] [Full Text] [Related]

  • 9. Dandy-Walker syndrome with duplex kidney abnormalities in trisomy 18 - A rare case report.
    Wang TJ, Li YY, Wu WJ, Lin CK, Wang CK, Wang CY, Hwang KS, Su HY.
    Taiwan J Obstet Gynecol; 2017 Oct 16; 56(5):697-699. PubMed ID: 29037562
    [Abstract] [Full Text] [Related]

  • 10. Tectocerebellar dysraphia with occipital encephalocele: a phenotypic variant of the TMEM231 gene mutation induced Joubert syndrome.
    Nicolas-Jilwan M, Al-Ahmari AN, Alowain MA, Altuhaini KS, Alshail EA.
    Childs Nerv Syst; 2019 Jul 16; 35(7):1257-1261. PubMed ID: 30617574
    [Abstract] [Full Text] [Related]

  • 11. [Hereditary cerebro-oculo-renal syndromes].
    Sessa G, Hjortshøj TD, Egfjord M.
    Ugeskr Laeger; 2014 Feb 17; 176(8A):V07130452. PubMed ID: 25350305
    [Abstract] [Full Text] [Related]

  • 12. Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly.
    Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G.
    Ultrasound Obstet Gynecol; 2021 Dec 17; 58(6):864-874. PubMed ID: 33942916
    [Abstract] [Full Text] [Related]

  • 13.
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  • 14. Open fourth ventricle prior to 20 weeks' gestation: a benign finding?
    Contro E, Volpe P, De Musso F, Muto B, Ghi T, De Robertis V, Pilu G.
    Ultrasound Obstet Gynecol; 2014 Feb 17; 43(2):154-8. PubMed ID: 24151160
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
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  • 16. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
    Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM.
    Orphanet J Rare Dis; 2014 May 05; 9():72. PubMed ID: 24886560
    [Abstract] [Full Text] [Related]

  • 17. A VERY RARE CAUSE OF APNEA IN THE NEONATAL PERIOD: JOUBERT SYNDROME.
    Demirel G, Yilmaz A, Vatansever B, Karavar H, Gundogdu S, Vatansever S, Turanli G, Tastekin A.
    Genet Couns; 2016 May 05; 27(3):425-428. PubMed ID: 30204974
    [No Abstract] [Full Text] [Related]

  • 18. TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
    Maglic D, Stephen J, Malicdan MC, Guo J, Fischer R, Konzman D, NISC Comparative Sequencing ProgramNIH Intramural Sequencing Center and Comparative Genomics Unit, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Mullikin JC, Gahl WA, Vilboux T, Gunay-Aygun M.
    Hum Mutat; 2016 Nov 05; 37(11):1144-1148. PubMed ID: 27449316
    [Abstract] [Full Text] [Related]

  • 19. Posterior fossa and vermian morphometry in the characterization of fetal cerebellar abnormalities: a prospective three-dimensional ultrasound study.
    Paladini D, Volpe P.
    Ultrasound Obstet Gynecol; 2006 May 05; 27(5):482-9. PubMed ID: 16619375
    [Abstract] [Full Text] [Related]

  • 20. Neuroimaging of Dandy-Walker malformation: new concepts.
    Correa GG, Amaral LF, Vedolin LM.
    Top Magn Reson Imaging; 2011 Dec 05; 22(6):303-12. PubMed ID: 24132069
    [Abstract] [Full Text] [Related]

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