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Journal Abstract Search

124 related items for PubMed ID: 11321595

  • 1. A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity.
    Golan I, Preising M, Wagener H, Baumert U, Niederdellmann H, Lorenz B, Müssig D.
    J Craniofac Genet Dev Biol; 2000; 20(3):113-20. PubMed ID: 11321595
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  • 2. A case of Japanese cleidocranial dysplasia with a CBFA1 frameshift mutation.
    Yokozeki M, Ohyama K, Tsuji M, Goseki-Sone M, Oida S, Orimo H, Moriyama K, Kuroda T.
    J Craniofac Genet Dev Biol; 2000; 20(3):121-6. PubMed ID: 11321596
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  • 5. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
    Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, Lee PJ, Majewski F, Mulliken JB, Suri M, Zenker M, Mundlos S, Otto F.
    Am J Hum Genet; 1999 Nov; 65(5):1268-78. PubMed ID: 10521292
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  • 7. A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene.
    Sakai N, Hasegawa H, Yamazaki Y, Ui K, Tokunaga K, Hirose R, Uchinuma E, Susami T, Takato T.
    J Craniofac Surg; 2002 Jan; 13(1):31-4. PubMed ID: 11886988
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  • 8. Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 alpha/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia.
    Goseki-Sone M, Orimo H, Watanabe A, Hamatani R, Yokozeki M, Ohyama K, Kuroda T, Watanabe H, Miyazaki H, Shimada T, Oida S.
    J Bone Miner Metab; 2001 Jan; 19(4):263-6. PubMed ID: 11448020
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  • 13. A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia.
    Lo Muzio L, Tetè S, Mastrangelo F, Cazzolla AP, Lacaita MG, Margaglione M, Campisi G.
    Ann Clin Lab Sci; 2007 Jan; 37(2):115-20. PubMed ID: 17522365
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  • 14. [Gene mutation detection in a cleidocranial dysplasia family].
    Wang Y, Wu H, Zhang XX, Zhao HS, Feng HL.
    Zhonghua Kou Qiang Yi Xue Za Zhi; 2005 Nov; 40(6):459-62. PubMed ID: 16329826
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  • 16. 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 Nov; 7(5):2490-5. PubMed ID: 24966961
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  • 19. [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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  • 20. Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip.
    Yamachika E, Tsujigiwa H, Ishiwari Y, Mizukawa N, Nagai N, Sugahara T.
    J Oral Pathol Med; 2001 Jul; 30(6):381-3. PubMed ID: 11459326
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