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Journal Abstract Search

417 related items for PubMed ID: 10204840

  • 1. Cleidocranial dysplasia: clinical and molecular genetics.
    Mundlos S.
    J Med Genet; 1999 Mar; 36(3):177-82. PubMed ID: 10204840
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  • 2. 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 Mar; 37(2):115-20. PubMed ID: 17522365
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  • 3. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.
    Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G.
    Nat Genet; 1997 Jul; 16(3):307-10. PubMed ID: 9207800
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  • 4. [Clinical and image features, and identification of pathogenic gene mutation of two cleidocranial dysplasia families].
    Wang GX, Ma LX, Xu WF, Song FL, Sun RP.
    Zhonghua Er Ke Za Zhi; 2010 Nov; 48(11):834-8. PubMed ID: 21215027
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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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  • 6. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.
    Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR.
    Cell; 1997 May 30; 89(5):773-9. PubMed ID: 9182765
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  • 7. A family with cleidocranial dysplasia and crossed ectopic kidney in one child.
    Suresh SS.
    Acta Orthop Belg; 2009 Aug 30; 75(4):521-7. PubMed ID: 19774820
    [Abstract] [Full Text] [Related]

  • 8. 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 Aug 30; 20(3):121-6. PubMed ID: 11321596
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  • 10. 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 30; 13(1):31-4. PubMed ID: 11886988
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  • 13. A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment.
    Çamtosun E, Akıncı A, Demiral E, Tekedereli İ, Sığırcı A.
    J Clin Res Pediatr Endocrinol; 2019 Sep 03; 11(3):301-305. PubMed ID: 30468148
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  • 17. Cleidocranial dysplasia: report of 3 cases and literature review.
    Shen Z, Zou CC, Yang RW, Zhao ZY.
    Clin Pediatr (Phila); 2009 Mar 03; 48(2):194-8. PubMed ID: 18832541
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  • 20. PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients.
    Zhang YW, Yasui N, Kakazu N, Abe T, Takada K, Imai S, Sato M, Nomura S, Ochi T, Okuzumi S, Nogami H, Nagai T, Ohashi H, Ito Y.
    Gene; 2000 Feb 22; 244(1-2):21-8. PubMed ID: 10689183
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