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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

160 related items for PubMed ID: 28889454

  • 1. 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; 173(11):2898-2905. PubMed ID: 28889454
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  • 3. 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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  • 4. 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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  • 5. A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
    Zlotina A, Melnik O, Fomicheva Y, Skitchenko R, Sergushichev A, Shagimardanova E, Gusev O, Gazizova G, Loevets T, Vershinina T, Kozyrev I, Gordeev M, Vasichkina E, Pervunina T, Kostareva A.
    BMC Med Genomics; 2020 Nov 20; 13(1):175. PubMed ID: 33218365
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  • 8. [ZRS mutations in two Chinese Han families featuring triphalangeal thumbs and preaxial polydactyly].
    Zhao X, Yang W, Sun M, Zhang X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Jun 20; 33(3):281-5. PubMed ID: 27264804
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  • 13. 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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  • 15. 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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  • 18. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.
    Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X.
    J Med Genet; 2008 Sep 15; 45(9):589-95. PubMed ID: 18417549
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  • 19. Phenotypic analysis of triphalangeal thumb and associated hand malformations.
    Zguricas J, Snijders PJ, Hovius SE, Heutink P, Oostra BA, Lindhout D.
    J Med Genet; 1994 Jun 15; 31(6):462-7. PubMed ID: 8071973
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