BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

246 related articles for article (PubMed ID: 10521292)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 19(4):263-6. PubMed ID: 11448020
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations.
    Yoshida T; Kanegane H; Osato M; Yanagida M; Miyawaki T; Ito Y; Shigesada K
    Blood Cells Mol Dis; 2003; 30(2):184-93. PubMed ID: 12732182
    [TBL] [Abstract][Full Text] [Related]  

  • 8. RUNX2 mutations in cleidocranial dysplasia.
    Lee KE; Seymen F; Ko J; Yildirim M; Tuna EB; Gencay K; Kim JW
    Genet Mol Res; 2013 Oct; 12(4):4567-74. PubMed ID: 24222232
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 89(5):773-9. PubMed ID: 9182765
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cleidocranial dysplasia: clinical and molecular genetics.
    Mundlos S
    J Med Genet; 1999 Mar; 36(3):177-82. PubMed ID: 10204840
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 244(1-2):21-8. PubMed ID: 10689183
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.
    Zhou G; Chen Y; Zhou L; Thirunavukkarasu K; Hecht J; Chitayat D; Gelb BD; Pirinen S; Berry SA; Greenberg CR; Karsenty G; Lee B
    Hum Mol Genet; 1999 Nov; 8(12):2311-6. PubMed ID: 10545612
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.
    Yoshida T; Kanegane H; Osato M; Yanagida M; Miyawaki T; Ito Y; Shigesada K
    Am J Hum Genet; 2002 Oct; 71(4):724-38. PubMed ID: 12196916
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
    Otto F; Kanegane H; Mundlos S
    Hum Mutat; 2002 Mar; 19(3):209-16. PubMed ID: 11857736
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 37(2):115-20. PubMed ID: 17522365
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel RUNX2 mutations in Chinese individuals with cleidocranial dysplasia.
    Zhang CY; Zheng SG; Wang YX; Zhu JX; Zhu X; Zhao YM; Ge LH
    J Dent Res; 2009 Sep; 88(9):861-6. PubMed ID: 19767586
    [TBL] [Abstract][Full Text] [Related]  

  • 17. New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.
    Machuca-Tzili L; Monroy-Jaramillo N; González-del Angel A; Kofman-Alfaro S
    Clin Genet; 2002 May; 61(5):349-53. PubMed ID: 12081718
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia.
    Kamamoto M; Machida J; Miyachi H; Ono T; Nakayama A; Shimozato K; Tokita Y
    Int J Oral Maxillofac Surg; 2011 Apr; 40(4):434-7. PubMed ID: 21115325
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia.
    Bergwitz C; Prochnau A; Mayr B; Kramer FJ; Rittierodt M; Berten HL; Hausamen JE; Brabant G
    J Inherit Metab Dis; 2001 Nov; 24(6):648-56. PubMed ID: 11768584
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.