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Journal Abstract Search

249 related items for PubMed ID: 28593008

  • 21.
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  • 23. 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]

  • 24. Meckel Gruber syndrome--a single gene cause of recurrent neural tube defects.
    de Silva D, Suriyawansa D, Mangalika M, Samarasinghe D.
    Ceylon Med J; 2001 Mar; 46(1):30. PubMed ID: 11570001
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  • 25. Meckel-Gruber syndrome (dysencephalia splanchnocystica).
    Shetty BP, Alva N, Patil S, Shetty R.
    J Contemp Dent Pract; 2012 Sep 01; 13(5):713-5. PubMed ID: 23250180
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  • 26. 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 01; 42(2):182-5. PubMed ID: 24643152
    [Abstract] [Full Text] [Related]

  • 27. Meckel syndrome: what are the minimum diagnostic criteria?
    Wright C, Healicon R, English C, Burn J.
    J Med Genet; 1994 Jun 01; 31(6):482-5. PubMed ID: 8071976
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  • 29. First-trimester ultrasound diagnosis of Meckel-Grüber syndrome.
    Liu SS, Cheong ML, She BQ, Tsai MS.
    Acta Obstet Gynecol Scand; 2006 Jun 01; 85(6):757-9. PubMed ID: 16752273
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  • 30. 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 01; 25(6):445-451. PubMed ID: 34096792
    [Abstract] [Full Text] [Related]

  • 31. Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
    Srivastava S, Manisha R, Dwivedi A, Agarwal H, Saxena D, Agrawal V, Mandal K.
    Fetal Pediatr Pathol; 2022 Dec 01; 41(6):1041-1051. PubMed ID: 34821546
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  • 32. Meckel-Gruber syndrome. A lethal combination of abnormalities.
    Coard KC, Escoffery CT.
    West Indian Med J; 1990 Mar 01; 39(1):52-6. PubMed ID: 2333699
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  • 33.
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  • 34. Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.
    Junior JHMF, Junior SP, Pustilnik HN, de Almeida Leão L, da Paz MGDS, Araujo TB, de Deus FOG, Alcântara T, Dourado JC, de Avellar LM.
    Childs Nerv Syst; 2024 Jul 01; 40(7):2161-2168. PubMed ID: 38459147
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  • 36. Prenatal diagnosis of recurrent Meckel syndrome.
    Ramadani HM, Nasrat HA.
    Int J Gynaecol Obstet; 1992 Dec 01; 39(4):327-32. PubMed ID: 1361467
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  • 38. [Ultrasonic diagnosis of a hereditary multiple malformation syndrome: Meckel-Gruber syndrome or Carpenter-Hunter syndrome].
    Adjahoto EO, De Grandi P, Maillard-Brignon C, Pescia G.
    J Gynecol Obstet Biol Reprod (Paris); 1992 Dec 01; 21(8):928-33. PubMed ID: 1491139
    [Abstract] [Full Text] [Related]

  • 39. Novel homozygous mutations in TXNDC15 causing Meckel syndrome.
    Deng T, Xie Y.
    Mol Genet Genomic Med; 2024 Mar 01; 12(3):e2343. PubMed ID: 38156946
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