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Journal Abstract Search

160 related items for PubMed ID: 22786669

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  • 2. 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; 57(10):660-663. PubMed ID: 32179704
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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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  • 5. 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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  • 6. 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 15; 158A(10):2610-5. PubMed ID: 22903933
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  • 10. 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 15; 35(8):945-8. PubMed ID: 24777739
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  • 11. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
    Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A.
    Hum Mutat; 2012 Jul 15; 33(7):1063-6. PubMed ID: 22495965
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  • 17. [Genetic analysis of one family with congenital limb malformations].
    Cai F, Ma J, Pan R, Wang C, Li W, Cai C, Lin S, Shu J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep 10; 36(9):890-892. PubMed ID: 31515783
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  • 18. Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36.
    Al-Qattan MM, Shamseldin HE, Al Mazyad M, Al Deghaither S, Alkuraya FS.
    Am J Med Genet A; 2013 Jul 10; 161A(7):1579-84. PubMed ID: 23686920
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  • 19. 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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