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Journal Abstract Search


467 related items for PubMed ID: 15811011

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  • 2. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
    Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE.
    Am J Hum Genet; 1999 Sep; 65(3):645-55. PubMed ID: 10441570
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  • 3. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.
    Kang S, Graham JM, Olney AH, Biesecker LG.
    Nat Genet; 1997 Mar; 15(3):266-8. PubMed ID: 9054938
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  • 4. Birth defects caused by mutations in human GLI3 and mouse Gli3 genes.
    Naruse I, Ueta E, Sumino Y, Ogawa M, Ishikiriyama S.
    Congenit Anom (Kyoto); 2010 Mar; 50(1):1-7. PubMed ID: 20201963
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  • 5. Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.
    Jamsheer A, Sowińska A, Trzeciak T, Jamsheer-Bratkowska M, Geppert A, Latos-Bieleńska A.
    J Appl Genet; 2012 Nov; 53(4):415-22. PubMed ID: 22903559
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  • 6. A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.
    Volodarsky M, Langer Y, Birk OS.
    BMC Med Genet; 2014 Sep 30; 15():110. PubMed ID: 25267529
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  • 7. Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.
    Wang Z, Wang J, Li Y, Geng J, Fu Q, Xu Y, Shen Y.
    Clin Chim Acta; 2014 Jun 10; 433():195-9. PubMed ID: 24667698
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  • 8. Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes.
    Mendoza-Londono R, Kashork CD, Shaffer LG, Krance R, Plon SE.
    Genes Chromosomes Cancer; 2005 Jan 10; 42(1):82-6. PubMed ID: 15390181
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  • 9. The molecular basis of Pallister Hall associated polydactyly.
    Hill P, Wang B, Rüther U.
    Hum Mol Genet; 2007 Sep 01; 16(17):2089-96. PubMed ID: 17588959
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  • 10. GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
    Patel R, Singh CB, Bhattacharya V, Singh SK, Ali A.
    Congenit Anom (Kyoto); 2016 Mar 01; 56(2):94-7. PubMed ID: 26508445
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  • 11. A and B preaxial polydactyly with syndactyly of feet and hands in the same person--a case report.
    Gawlikowska-Sroka A, Tudaj W, Czerwiński F.
    Adv Med Sci; 2009 Mar 01; 54(2):305-7. PubMed ID: 20053619
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  • 13. A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.
    Crapster JA, Hudgins L, Chen JK, Gomez-Ospina N.
    Am J Med Genet A; 2017 Dec 01; 173(12):3221-3225. PubMed ID: 28884880
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  • 17. A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.
    Kariminejad A, Ghaderi-Sohi S, Keshavarz E, Hashemi SA, Parsimehr E, Szenker-Ravi E, Khatoo M, Faraji Zonooz M, Reversade B, Najmabadi H, Hennekam RC.
    Clin Genet; 2020 Jun 01; 97(6):915-919. PubMed ID: 32112393
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