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Journal Abstract Search

130 related items for PubMed ID: 27264804

  • 1.
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  • 2. A Novel ZRS Mutation in a Chinese Patient with Preaxial Polydactyly and Triphalangeal Thumb.
    Wu PF, Guo S, Fan XF, Fan LL, Jin JY, Tang JY, Xiang R.
    Cytogenet Genome Res; 2016; 149(3):171-175. PubMed ID: 27592358
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  • 3. 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; 59(8):467-70. PubMed ID: 24965254
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  • 5. 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; 35(8):945-8. PubMed ID: 24777739
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  • 6. [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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  • 7. 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 10; 173(11):2898-2905. PubMed ID: 28889454
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  • 9. 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 10; 57(10):660-663. PubMed ID: 32179704
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  • 12. 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 10; 33(7):1063-6. PubMed ID: 22495965
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  • 13. 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 10; 45(9):589-95. PubMed ID: 18417549
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  • 14. 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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  • 15. 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 29; 22(1):189-198. PubMed ID: 31395945
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  • 16. [Mutation analysis in a large Chinese pedigree affected with preaxial polydactyly II].
    Zhang Z, Lyu Y, Li-Ling J, Liu C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jun 10; 36(6):610-612. PubMed ID: 31055818
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  • 18. 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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