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Journal Abstract Search

136 related items for PubMed ID: 33590725

  • 1. 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
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  • 6. 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
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  • 7. 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
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  • 9. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
    Abdelhamed ZA, Wheway G, Szymanska K, Natarajan S, Toomes C, Inglehearn C, Johnson CA.
    Hum Mol Genet; 2013 Apr 01; 22(7):1358-72. PubMed ID: 23283079
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  • 12. Clinical utility gene card for: Meckel syndrome.
    Salonen R, Kestilä M, Bergmann C.
    Eur J Hum Genet; 2011 Jul 01; 19(7):. PubMed ID: 21368913
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  • 13. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
    Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C.
    Eur J Hum Genet; 2015 Jun 01; 23(6):746-52. PubMed ID: 25182137
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  • 14. Characterizing the morbid genome of ciliopathies.
    Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA, Ciliopathy WorkingGroup, Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS.
    Genome Biol; 2016 Nov 28; 17(1):242. PubMed ID: 27894351
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  • 15. Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.
    Watson CM, Dean P, Camm N, Bates J, Carr IM, Gardiner CA, Bonthron DT.
    Hum Mutat; 2020 Feb 28; 41(2):525-531. PubMed ID: 31663672
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  • 17. 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 Feb 28; 20(5):449-454. PubMed ID: 28812468
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  • 19. Novel homozygous mutations in TXNDC15 causing Meckel syndrome.
    Deng T, Xie Y.
    Mol Genet Genomic Med; 2024 Mar 28; 12(3):e2343. PubMed ID: 38156946
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  • 20. 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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