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Journal Abstract Search

249 related items for PubMed ID: 28593008

  • 1. 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]

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

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

  • 4. 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]

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

  • 6. Fetal autopsy of Meckel Gruber syndrome -a case report.
    Bolineni C, Nagamuthu EA, Neelala N.
    Fetal Pediatr Pathol; 2013 Oct; 32(5):387-93. PubMed ID: 23445452
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. 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]

  • 10. 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 Dec; 29(12):2013-6. PubMed ID: 26333300
    [Abstract] [Full Text] [Related]

  • 11. Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.
    Celentano C, Prefumo F, Liberati M, Gallo G, Di Nisio Q, Rotmensch S.
    J Assist Reprod Genet; 2006 Jun; 23(6):281-3. PubMed ID: 16832598
    [Abstract] [Full Text] [Related]

  • 12. A rare case of Meckel-Gruber syndrome.
    Chiriac DV, Hogea LM, Bredicean AC, Rednic R, Nussbaum LA, Hogea GB, Grigoraş ML.
    Rom J Morphol Embryol; 2017 Jun; 58(3):1023-1027. PubMed ID: 29250684
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Two novel TCTN2 mutations cause Meckel-Gruber syndrome.
    Zhang M, Chang Z, Tian Y, Wang L, Lu Y.
    J Hum Genet; 2020 Nov; 65(11):1039-1043. PubMed ID: 32655147
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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]

  • 17. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
    Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS.
    Hum Mutat; 2011 Jun; 32(6):573-8. PubMed ID: 21462283
    [Abstract] [Full Text] [Related]

  • 18. Early prenatal diagnosis of Meckel syndrome--a case report.
    Yu CJ, Chen CP, Jeng CJ, Yang YC.
    Zhonghua Yi Xue Za Zhi (Taipei); 1990 Jul; 46(1):53-6. PubMed ID: 2176925
    [Abstract] [Full Text] [Related]

  • 19. A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin.
    Litz Philipsborn S, Hartmajer S, Shtorch Asor A, Vinovezky M, Regev M, Singer A, Reinstein E.
    Am J Med Genet A; 2021 May; 185(5):1610-1613. PubMed ID: 33590725
    [No Abstract] [Full Text] [Related]

  • 20. Meckel syndrome with Caroli disease and choledochal cysts.
    Venkatachala S, Sivaraman A.
    Fetal Pediatr Pathol; 2011 May; 30(5):350-4. PubMed ID: 21843058
    [Abstract] [Full Text] [Related]

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