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Journal Abstract Search

274 related items for PubMed ID: 18178630

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  • 2. 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; 45(9):589-95. PubMed ID: 18417549
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  • 3. 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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  • 7. A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud.
    Masuya H, Sezutsu H, Sakuraba Y, Sagai T, Hosoya M, Kaneda H, Miura I, Kobayashi K, Sumiyama K, Shimizu A, Nagano J, Yokoyama H, Kaneko S, Sakurai N, Okagaki Y, Noda T, Wakana S, Gondo Y, Shiroishi T.
    Genomics; 2007 Feb 20; 89(2):207-14. PubMed ID: 17049204
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  • 9. An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.
    Radhakrishna U, Blouin JL, Solanki JV, Dhoriani GM, Antonarakis SE.
    Am J Med Genet; 1996 Dec 11; 66(2):209-15. PubMed ID: 8958333
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  • 10. Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly.
    Albuisson J, Isidor B, Giraud M, Pichon O, Marsaud T, David A, Le Caignec C, Bezieau S.
    Clin Genet; 2011 Apr 11; 79(4):371-7. PubMed ID: 20569257
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  • 13. 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 11; 76(1):85-90. PubMed ID: 19519794
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  • 14. 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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  • 17. 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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  • 18. Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36.
    Balci S, Demirtas M, Civelek B, Piskin M, Sensoz O, Akarsu AN.
    Am J Med Genet; 1999 Dec 22; 87(5):399-406. PubMed ID: 10594878
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  • 20. Mutation analysis of a Chinese pedigree with triphalangeal thumb-polysyndactyly syndrome.
    Xing XS, Zhu HW, Chen C, Wang SS, Luo Y, Zhang X.
    Genet Mol Res; 2014 Jan 17; 13(1):246-54. PubMed ID: 24535850
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