BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 12815605)

  • 21. 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]  

  • 22. Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case.
    Qin XY; Jia PZ; Zhao HX; Li WR; Chen F; Lin JX
    Chin Med J (Engl); 2017 Jan; 130(2):165-170. PubMed ID: 28091408
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings.
    Visosky AM; Johnson J; Bingea B; Gurney T; Lalwani AK
    Laryngoscope; 2003 Sep; 113(9):1508-14. PubMed ID: 12972925
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia.
    Suda N; Hattori M; Kosaki K; Banshodani A; Kozai K; Tanimoto K; Moriyama K
    Orthod Craniofac Res; 2010 Nov; 13(4):197-202. PubMed ID: 21040462
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The effect of the cleidocranial dysplasia-related novel 1116_1119insC mutation in the RUNX2 gene on the biological function of mesenchymal cells.
    Ding B; Li C; Xuan K; Liu N; Tang L; Liu Y; Guo W; Liu W; Jin Y
    Eur J Med Genet; 2013 Apr; 56(4):180-7. PubMed ID: 23376464
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia.
    Xu W; Chen Q; Liu C; Chen J; Xiong F; Wu B
    BMC Med Genet; 2017 Feb; 18(1):13. PubMed ID: 28173761
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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; 32(4):437-443. PubMed ID: 28505335
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. The presence of germ line mosaicism in cleidocranial dysplasia.
    Pal T; Napierala D; Becker TA; Loscalzo M; Baldridge D; Lee B; Sutphen R
    Clin Genet; 2007 Jun; 71(6):589-91. PubMed ID: 17539909
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
    Vieira V; David G; Roche O; de la Houssaye G; Boutboul S; Arbogast L; Kobetz A; Orssaud C; Camand O; Schorderet DF; Munier F; Rossi A; Delezoide AL; Marsac C; Ricquier D; Dufier JL; Menasche M; Abitbol M
    Mol Vis; 2006 Dec; 12():1448-60. PubMed ID: 17167399
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2.
    Hebbar M; Girisha KM; Shukla A
    BMJ Case Rep; 2016 May; 2016():. PubMed ID: 27177937
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A novel gene mutation of Runx2 in cleidocranial dysplasia.
    Peng YJ; Chen QY; Fu DJ; Liu ZM; Mao TT; Li J; She WT
    J Huazhong Univ Sci Technolog Med Sci; 2017 Oct; 37(5):772-776. PubMed ID: 29058294
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [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]  

  • 37. Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
    Jaruga A; Hordyjewska E; Kandzierski G; Tylzanowski P
    Clin Genet; 2016 Nov; 90(5):393-402. PubMed ID: 27272193
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta.
    Han MS; Kim HJ; Wee HJ; Lim KE; Park NR; Bae SC; van Wijnen AJ; Stein JL; Lian JB; Stein GS; Choi JY
    J Cell Biochem; 2010 May; 110(1):97-103. PubMed ID: 20225274
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A novel RUNX2 mutation in cleidocranial dysplasia patients.
    Xuan D; Li S; Zhang X; Lin L; Wang C; Zhang J
    Biochem Genet; 2008 Dec; 46(11-12):702-7. PubMed ID: 18777095
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.