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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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  • 2. Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.
    Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB.
    Am J Med Genet A; 2007 Jan 01; 143A(1):27-32. PubMed ID: 17152067
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  • 3. Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.
    Potuijt JWP, Hoogeboom J, de Graaff E, van Nieuwenhoven CA, Galjaard RJH.
    J Med Genet; 2020 Oct 01; 57(10):660-663. PubMed ID: 32179704
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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 01; 20(11):1405-1413. PubMed ID: 29543231
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  • 5. A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.
    Al-Qattan MM, Al Abdulkareem I, Al Haidan Y, Al Balwi M.
    Am J Med Genet A; 2012 Oct 01; 158A(10):2610-5. PubMed ID: 22903933
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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 01; 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 01; 31(1):81-9. PubMed ID: 19847792
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  • 11. A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
    VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N.
    Hum Mutat; 2014 Aug 01; 35(8):945-8. PubMed ID: 24777739
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  • 12. A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud.
    Xu C, Yang X, Zhou H, Li Y, Xing C, Zhou T, Zhong D, Lian C, Yan M, Chen T, Liao Z, Gao B, Su D, Wang T, Sharma S, Mohan C, Ahituv N, Malik S, Li QZ, Su P.
    Genet Med; 2020 Jan 01; 22(1):189-198. PubMed ID: 31395945
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  • 16. Identification of spontaneous mutations within the long-range limb-specific Sonic hedgehog enhancer (ZRS) that alter Sonic hedgehog expression in the chicken limb mutants oligozeugodactyly and silkie breed.
    Maas SA, Suzuki T, Fallon JF.
    Dev Dyn; 2011 May 01; 240(5):1212-22. PubMed ID: 21509895
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  • 17. ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.
    Norbnop P, Srichomthong C, Suphapeetiporn K, Shotelersuk V.
    J Hum Genet; 2014 Aug 01; 59(8):467-70. PubMed ID: 24965254
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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 01; 297(5):1343-1352. PubMed ID: 35821352
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  • 20. Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?
    Baas M, Potuijt JWP, Hovius SER, Hoogeboom AJM, Galjaard RH, van Nieuwenhoven CA.
    Am J Med Genet A; 2017 Nov 01; 173(11):2898-2905. PubMed ID: 28889454
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