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241 related items for PubMed ID: 17051365

  • 1. [Cleidocranial dysplasia. Description and analysis of a patient cohort].
    Baumert U, Golan I, Driemel O, Reichert TE, Reicheneder C, Muessig D, Rose E.
    Mund Kiefer Gesichtschir; 2006 Nov; 10(6):385-93. PubMed ID: 17051365
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  • 2. RUNX2 mutations in cleidocranial dysplasia.
    Lee KE, Seymen F, Ko J, Yildirim M, Tuna EB, Gencay K, Kim JW.
    Genet Mol Res; 2013 Oct 15; 12(4):4567-74. PubMed ID: 24222232
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  • 5. Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group.
    Baumert U, Golan I, Redlich M, Aknin JJ, Muessig D.
    Am J Med Genet A; 2005 Dec 01; 139A(2):78-85. PubMed ID: 16222673
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  • 6. A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia.
    Chen T, Hou J, Hu LL, Gao J, Wu BL.
    Int J Clin Exp Pathol; 2014 Dec 01; 7(5):2490-5. PubMed ID: 24966961
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  • 7. Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.
    Kim HJ, Nam SH, Kim HJ, Park HS, Ryoo HM, Kim SY, Cho TJ, Kim SG, Bae SC, Kim IS, Stein JL, van Wijnen AJ, Stein GS, Lian JB, Choi JY.
    J Cell Physiol; 2006 Apr 01; 207(1):114-22. PubMed ID: 16270353
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  • 8. Familial cleidocranial dysplasia misdiagnosed as rickets over three generations.
    Franceschi R, Maines E, Fedrizzi M, Piemontese MR, De Bonis P, Agarwal N, Bellizzi M, Di Palma A.
    Pediatr Int; 2015 Oct 01; 57(5):1003-6. PubMed ID: 26286462
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  • 9. A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review.
    Hsueh SJ, Lee NC, Yang SH, Lin HI, Lin CH.
    BMC Neurol; 2017 Jan 06; 17(1):2. PubMed ID: 28056872
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  • 11. RUNX2 analysis of Danish cleidocranial dysplasia families.
    Hansen L, Riis AK, Silahtaroglu A, Hove H, Lauridsen E, Eiberg H, Kreiborg S.
    Clin Genet; 2011 Mar 06; 79(3):254-63. PubMed ID: 20560987
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  • 12. A novel RUNX2 mutation in cleidocranial dysplasia patients.
    Xuan D, Li S, Zhang X, Lin L, Wang C, Zhang J.
    Biochem Genet; 2008 Dec 06; 46(11-12):702-7. PubMed ID: 18777095
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  • 19. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
    Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E.
    Hum Mutat; 2010 Aug 06; 31(8):E1587-93. PubMed ID: 20648631
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  • 20. Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia.
    Zeng L, Wei J, Han D, Liu H, Liu Y, Zhao N, Sun S, Wang Y, Feng H.
    Mutagenesis; 2017 Jul 01; 32(4):437-443. PubMed ID: 28505335
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