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Journal Abstract Search

241 related items for PubMed ID: 17051365

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. 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 Nov; 20(3):113-20. PubMed ID: 11321595
    [Abstract] [Full Text] [Related]

  • 23. A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene.
    Callea M, Fattori F, Yavuz I, Bertini E.
    BMJ Case Rep; 2012 Dec 05; 2012():. PubMed ID: 23220435
    [Abstract] [Full Text] [Related]

  • 24. A novel 18-bp in-frame deletion mutation in RUNX2 causes cleidocranial dysplasia.
    Zeng L, Wei J, Zhao N, Sun S, Wang Y, Feng H.
    Arch Oral Biol; 2018 Dec 05; 96():243-248. PubMed ID: 29089101
    [Abstract] [Full Text] [Related]

  • 25. 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 05; 10(4):222-5. PubMed ID: 17973689
    [Abstract] [Full Text] [Related]

  • 26. Evidence of intrafamilial variability of CBFA1/RUNX2 expression in cleidocranial dysplasia--a family study.
    Golan I, Baumert U, Wagener H, Preising M, Lorenz B, Niederdellmann H, Müssig D.
    J Orofac Orthop; 2002 May 05; 63(3):190-8. PubMed ID: 12132307
    [Abstract] [Full Text] [Related]

  • 27. 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 05; 71(4):724-38. PubMed ID: 12196916
    [Abstract] [Full Text] [Related]

  • 28. 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 Oct 05; 30(2):184-93. PubMed ID: 12732182
    [Abstract] [Full Text] [Related]

  • 29. RUNX2 mutations in cleidocranial dysplasia patients.
    Ryoo HM, Kang HY, Lee SK, Lee KE, Kim JW.
    Oral Dis; 2010 Jan 05; 16(1):55-60. PubMed ID: 19744171
    [Abstract] [Full Text] [Related]

  • 30. 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 05; 49(7):437-41. PubMed ID: 22717651
    [Abstract] [Full Text] [Related]

  • 31. Dental Follicle Cells Participate in Tooth Eruption via the RUNX2-MiR-31-SATB2 Loop.
    Ge J, Guo S, Fu Y, Zhou P, Zhang P, Du Y, Li M, Cheng J, Jiang H.
    J Dent Res; 2015 Jul 05; 94(7):936-44. PubMed ID: 25818585
    [Abstract] [Full Text] [Related]

  • 32. RUNX2 mutation impairs osteogenic differentiation of dental follicle cells.
    Liu Y, Sun X, Zhang X, Wang X, Zhang C, Zheng S.
    Arch Oral Biol; 2019 Jan 05; 97():156-164. PubMed ID: 30391791
    [Abstract] [Full Text] [Related]

  • 33. Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia.
    Zhang T, Wu J, Zhao X, Hou F, Ma T, Wang H, Zhang X, Zhang X.
    Arch Oral Biol; 2019 Apr 05; 100():49-56. PubMed ID: 30798031
    [Abstract] [Full Text] [Related]

  • 34. RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
    Li Y, Pan W, Xu W, He N, Chen X, Liu H, Darryl Quarles L, Zhou H, Xiao Z.
    Mutagenesis; 2009 Sep 05; 24(5):425-31. PubMed ID: 19515746
    [Abstract] [Full Text] [Related]

  • 35. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
    Otto F, Kanegane H, Mundlos S.
    Hum Mutat; 2002 Mar 05; 19(3):209-16. PubMed ID: 11857736
    [Abstract] [Full Text] [Related]

  • 36. Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.
    Hordyjewska-Kowalczyk E, Sowińska-Seidler A, Olech EM, Socha M, Glazar R, Kruczek A, Latos-Bieleńska A, Tylzanowski P, Jamsheer A.
    Clin Genet; 2019 Nov 05; 96(5):429-438. PubMed ID: 31347140
    [Abstract] [Full Text] [Related]

  • 37. 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 05; 76(2):78-85. PubMed ID: 16463420
    [Abstract] [Full Text] [Related]

  • 38. Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.
    Gong L, Odilov B, Han F, Liu F, Sun Y, Zhang N, Zuo X, Yang J, Wang S, Hou X, Ren J.
    Genes Genomics; 2022 Jun 05; 44(6):683-690. PubMed ID: 35235174
    [Abstract] [Full Text] [Related]

  • 39. Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families.
    Dinçsoy Bir F, Dinçkan N, Güven Y, Baş F, Altunoğlu U, Kuvvetli SS, Poyrazoğlu Ş, Toksoy G, Kayserili H, Uyguner ZO.
    Eur J Med Genet; 2017 Mar 05; 60(3):163-168. PubMed ID: 28027977
    [Abstract] [Full Text] [Related]

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