BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

348 related articles for article (PubMed ID: 17522365)

  • 1. 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]  

  • 2. Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation.
    Suda N; Hamada T; Hattori M; Torii C; Kosaki K; Moriyama K
    Orthod Craniofac Res; 2007 Nov; 10(4):222-5. PubMed ID: 17973689
    [TBL] [Abstract][Full Text] [Related]  

  • 3. RUNX2 mutations in cleidocranial dysplasia patients.
    Ryoo HM; Kang HY; Lee SK; Lee KE; Kim JW
    Oral Dis; 2010 Jan; 16(1):55-60. PubMed ID: 19744171
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Delayed tooth eruption and suppressed osteoclast number in the eruption pathway of heterozygous Runx2/Cbfa1 knockout mice.
    Yoda S; Suda N; Kitahara Y; Komori T; Ohyama K
    Arch Oral Biol; 2004 Jun; 49(6):435-42. PubMed ID: 15099800
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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]  

  • 6. 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]  

  • 7. Effect of cleidocranial dysplasia-related novel mutation of RUNX2 on characteristics of dental pulp cells and tooth development.
    Xuan D; Sun X; Yan Y; Xie B; Xu P; Zhang J
    J Cell Biochem; 2010 Dec; 111(6):1473-81. PubMed ID: 20872798
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia.
    Marchisella C; Rolando F; Muscarella LA; Zelante L; Bracco P; Piemontese MR
    Eur J Orthod; 2011 Oct; 33(5):498-502. PubMed ID: 21131390
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
    Cunningham ML; Seto ML; Hing AV; Bull MJ; Hopkin RJ; Leppig KA
    Birth Defects Res A Clin Mol Teratol; 2006 Feb; 76(2):78-85. PubMed ID: 16463420
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cleidocranial dysplasia: oral features and genetic analysis of 11 patients.
    Bufalino A; Paranaíba LM; Gouvêa AF; Gueiros LA; Martelli-Júnior H; Junior JJ; Lopes MA; Graner E; De Almeida OP; Vargas PA; Coletta RD
    Oral Dis; 2012 Mar; 18(2):184-90. PubMed ID: 22023169
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 31(8):E1587-93. PubMed ID: 20648631
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia.
    Zhang YW; Yasui N; Ito K; Huang G; Fujii M; Hanai J; Nogami H; Ochi T; Miyazono K; Ito Y
    Proc Natl Acad Sci U S A; 2000 Sep; 97(19):10549-54. PubMed ID: 10962029
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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; 79(3):254-63. PubMed ID: 20560987
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia.
    Ott CE; Hein H; Lohan S; Hoogeboom J; Foulds N; Grünhagen J; Stricker S; Villavicencio-Lorini P; Klopocki E; Mundlos S
    J Med Genet; 2012 Jul; 49(7):437-41. PubMed ID: 22717651
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Pierre Marie-Sainton cleidocranial dysplasia].
    Diaconescu S; Păduraru G; Vâscu AM; Burlea M
    Rev Med Chir Soc Med Nat Iasi; 2011; 115(2):341-8. PubMed ID: 21870721
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.
    Fernandez BA; Siegel-Bartelt J; Herbrick JA; Teshima I; Scherer SW
    Clin Genet; 2005 Oct; 68(4):349-59. PubMed ID: 16143022
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.