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Journal Abstract Search

205 related items for PubMed ID: 18463159

  • 1. A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.
    Furniss D, Lettice LA, Taylor IB, Critchley PS, Giele H, Hill RE, Wilkie AO.
    Hum Mol Genet; 2008 Aug 15; 17(16):2417-23. PubMed ID: 18463159
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  • 4. A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.
    Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagher R, Swagemakers SM, Hovius SER, van Nieuwenhoven CA, Galjaard RH, van der Spek PJ, Ahituv N, de Klein A.
    Genet Med; 2018 Nov 15; 20(11):1405-1413. PubMed ID: 29543231
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  • 7. The First Patient with Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome Caused by De Novo c.423+4916 T>C ZRS Variant: A Case Report.
    Zepeda-Olmos PM, Robles-Espinoza K, Esparza-García E, Magaña-Torres MT.
    Int J Mol Sci; 2024 Aug 29; 25(17):. PubMed ID: 39273297
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  • 9. A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.
    VanderMeer JE, Afzal M, Alyas S, Haque S, Ahituv N, Malik S.
    Am J Med Genet A; 2012 Aug 29; 158A(8):2031-5. PubMed ID: 22786669
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  • 10. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
    Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B.
    Hum Mutat; 2010 Jan 29; 31(1):81-9. PubMed ID: 19847792
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  • 14. Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.
    Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA.
    Clin Genet; 2009 Jul 29; 76(1):85-90. PubMed ID: 19519794
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  • 19. The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.
    Potuijt JWP, Sowinska-Seidler A, Bukowska-Olech E, Nguyen P, Jankowski A, Magielsen F, Matuszewska K, van Nieuwenhoven CA, Galjaard RH, de Klein A, Jamsheer A.
    Mol Genet Genomics; 2022 Sep 29; 297(5):1343-1352. PubMed ID: 35821352
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