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193 related items for PubMed ID: 24706459

  • 1. First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.
    Jones D, Fiozzo F, Waters B, McKnight D, Brown S.
    Ultrasound Obstet Gynecol; 2014 Dec; 44(6):719-21. PubMed ID: 24706459
    [Abstract] [Full Text] [Related]

  • 2. Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome.
    Eckmann-Scholz C, Jonat W, Zerres K, Ortiz-Brüchle N.
    Arch Gynecol Obstet; 2012 Oct; 286(4):917-21. PubMed ID: 22699515
    [Abstract] [Full Text] [Related]

  • 3. Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.
    Khurana S, Saini V, Wadhwa V, Kaur H.
    J Ultrasound; 2017 Jun; 20(2):167-170. PubMed ID: 28593008
    [Abstract] [Full Text] [Related]

  • 4. A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.
    Ridnõi K, Šois M, Vaidla E, Pajusalu S, Kelder L, Reimand T, Õunap K.
    Mol Genet Genomic Med; 2019 May; 7(5):e614. PubMed ID: 30851085
    [Abstract] [Full Text] [Related]

  • 5. Meckel Gruber syndrome, A case report.
    Aslan K, Külahçı Aslan E, Orhan A, Atalay MA.
    Organogenesis; 2015 May; 11(2):87-92. PubMed ID: 26037304
    [Abstract] [Full Text] [Related]

  • 6. The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17.
    Cierna Z, Janega P, Grochal F, Ferianec V, Braxatorisova T, Strieskova L, Malova J, Jungova P, Szemes T.
    Pediatr Dev Pathol; 2017 May; 20(5):449-454. PubMed ID: 28812468
    [Abstract] [Full Text] [Related]

  • 7. [Meckel Gruber syndrome: about a rare case].
    Itchimouh S, Khabtou K, Mahdaoui S, Boufettal H, Samouh N.
    Pan Afr Med J; 2016 May; 25():43. PubMed ID: 28154732
    [Abstract] [Full Text] [Related]

  • 8. A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.
    Al-Belushi M, Al Ibrahim A, Ahmed M, Ahmed B, Khenyab N, Konje JC.
    J Matern Fetal Neonatal Med; 2016 May; 29(12):2013-6. PubMed ID: 26333300
    [Abstract] [Full Text] [Related]

  • 9. Meckel-Gruber syndrome: a rare clinical entity.
    Jha T, Bardhan J, Das B, Patra KK, Dhali B, Seth S.
    J Indian Med Assoc; 2010 Sep; 108(9):611-2. PubMed ID: 21510539
    [Abstract] [Full Text] [Related]

  • 10. Meckel-Gruber Syndrome with unilateral renal agenesis.
    Uysal F, Uysal A.
    J Coll Physicians Surg Pak; 2015 Apr; 25 Suppl 1():S56-7. PubMed ID: 25933467
    [Abstract] [Full Text] [Related]

  • 11. Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation.
    Sepulveda W, Sebire NJ, Souka A, Snijders RJ, Nicolaides KH.
    Am J Obstet Gynecol; 1997 Feb; 176(2):316-9. PubMed ID: 9065174
    [Abstract] [Full Text] [Related]

  • 12. Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
    Bruechle NO, Steuernagel P, Zerres K, Kurth I, Eggermann T, Knopp C.
    Pediatr Nephrol; 2017 Oct; 32(10):1989-1992. PubMed ID: 28620746
    [Abstract] [Full Text] [Related]

  • 13. 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
    Molin A, Benoist G, Jeanne-Pasquier C, Elkartoufi N, Litzer J, Decamp M, Gruchy N, Durand-Malbruny M, Begorre M, Attie-Bitach T, Leporrier N.
    Eur J Med Genet; 2013 Oct; 56(10):580-3. PubMed ID: 23954617
    [Abstract] [Full Text] [Related]

  • 14. Meckel-Gruber Syndrome: A Case Who Lived for 5 Months.
    Aydin Ozturk P, Asena M, Katar S, Ozturk U.
    Pediatr Neurosurg; 2019 Oct; 54(4):277-280. PubMed ID: 31261150
    [Abstract] [Full Text] [Related]

  • 15. Meckel syndrome: Clinical and mutation profile in six fetuses.
    Radhakrishnan P, Nayak SS, Shukla A, Lindstrand A, Girisha KM.
    Clin Genet; 2019 Dec; 96(6):560-565. PubMed ID: 31411728
    [Abstract] [Full Text] [Related]

  • 16. Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome.
    Kurtulmuş S, Demirpençe S, Can Öztekin D, Koç A, Tavlı V.
    Turk Kardiyol Dern Ars; 2014 Mar; 42(2):182-5. PubMed ID: 24643152
    [Abstract] [Full Text] [Related]

  • 17. Mutations in TMEM231 cause Meckel-Gruber syndrome.
    Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS.
    J Med Genet; 2013 Mar; 50(3):160-2. PubMed ID: 23349226
    [Abstract] [Full Text] [Related]

  • 18. Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature.
    Turkyilmaz A, Geckinli BB, Alavanda C, Arslan Ates E, Buyukbayrak EE, Eren SF, Arman A.
    Genet Test Mol Biomarkers; 2021 Jun; 25(6):445-451. PubMed ID: 34096792
    [Abstract] [Full Text] [Related]

  • 19. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
    Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M.
    Am J Hum Genet; 2008 Jun; 82(6):1361-7. PubMed ID: 18513680
    [Abstract] [Full Text] [Related]

  • 20. First-trimester ultrasound diagnosis of Meckel-Grüber syndrome.
    Liu SS, Cheong ML, She BQ, Tsai MS.
    Acta Obstet Gynecol Scand; 2006 Jun; 85(6):757-9. PubMed ID: 16752273
    [No Abstract] [Full Text] [Related]

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