| 1 | CCD, RUNX2
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| Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.
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| El-Gharbawy AH, Peeden JN Jr, Lachman RS, Graham JM Jr, Moore SR, Rimoin DL.
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| Am J Med Genet A 152A(1):169-74.PMID: 20014132 2010
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| 2 | CCD, RUNX2
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| A Runx2 threshold for the cleidocranial dysplasia phenotype.
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| Lou Y, Javed A, Hussain S, Colby J, Frederick D, Pratap J, Xie R, Gaur T, van Wijnen AJ, Jones SN, Stein GS, Lian JB, Stein JL.
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| Hum Mol Genet 18(3):556-68. Epub 2008 Nov 20.
2009
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| 3 | CCD, RUNX2
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| De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.
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| Purandare SM, Mendoza-Londono R, Yatsenko SA, Napierala D, Scott DA, Sibai T, Casas K, Wilson P, Lee J, Muneer R, Leonard JC, Ramji FG, Lachman R, Li S, Stankiewicz P, Lee B, Mulvihill JJ.
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| Am J Med Genet A 146(4):453-8. 2008
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| 4 | AIRE, ATR, BCOR, CCD, COL1A1, COL1A2, CRDAI, CYP27B1, DLX", FTC1, GALNT3, HPC3, NHS, OFCD, OI1A, OI1B, PCNT, PDDR, PGA1, RUNX2, SCKL, SCKL1, SCKL2, SCKL3, SHH, SIOD, SMARCAL1, TDOS, VDDR2, VDR, WHS
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| The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
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| Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.
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| Eur J Med Genet 51(5):383-408. Epub 2008 May 23. Review. 2008
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| 5 | RUNX1, RUNX2, CCD, FPDAML
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| Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.
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| Matheny CJ, Speck ME, Cushing PR, Zhou Y, Corpora T, Regan M, Newman M, Roudaia L, Speck CL, Gu TL, Griffey SM, Bushweller JH, Speck NA.
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| EMBO J 26(4):1163-75. Epub 2007 Feb 8. 2007
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| 6 | CCD, RUNX2
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| A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia.
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| Lo Muzio L, Tetè S, Mastrangelo F, Cazzolla AP, Lacaita MG, Margaglione M, Campisi G.
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| Ann Clin Lab Sci 37(2):115-20.
2007
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| 7 | CCD, RUNX2
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| Dysregulation of chondrogenesis in human cleidocranial dysplasia.
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| Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D.
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| Am J Hum Genet 77(2):305-12. Epub 2005 Jun 10. 2005
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| 8 | CCD, HPE3, SHH, RUNX2
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| Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.
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| Fernandez BA, Siegel-Bartelt J, Herbrick JA, Teshima I, Scherer SW.
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| Clin Genet 68(4):349-59. 2005
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| 9 | CCD, RUNX2
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| Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia.
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| Puppin C, Pellizzari L, Fabbro D, Fogolari F, Tell G, Tessa A, Santorelli FM, Damante G.
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| J Hum Genet 50(12):679-83. Epub 2005 Oct 22. 2005
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| 10 | CCD, RUNX2
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| Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations.
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| Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y, Shigesada K.
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| Blood Cells Mol Dis 30(2):184-93. 2003
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| 11 | CCD, RUNX2
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| Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
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| Otto F, Kanegane H, Mundlos S.
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| Hum Mutat 19(3):209-16. Review. 2002
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| 12 | RUNX2, CCD
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| New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.
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| Machuca-Tzili L, Monroy-Jaramillo N, Gonzalez-Del Angel A, Kofman-Alfaro S.
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| Clin Genet 61(5):349-53. 2002
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| 13 | CCD, RUNX2
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| Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.
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| Morava E, Karteszi J, Weisenbach J, Caliebe A, Mundlos S, Mehes K.
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| Eur J Pediatr 161(11):619-22. Epub 2002 Oct 09. 2002
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| 14 | CCD
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| A natural history of cleidocranial dysplasia.
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| Cooper SC, Flaitz CM, Johnston DA, Lee B, Hecht JT.
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| Am J Med Genet 104(1):1-6. 2001
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| 15 | CCD, RUNX2
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| PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients.
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| 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.
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| Gene 244(1-2):21-8. 2000
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| 16 | CCD, RUNX2
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| A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity.
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| Golan I, Preising M, Wagener H, Baumert U, Niederdellmann H, Lorenz B, Mussig D.
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| J Craniofac Genet Dev Biol 20(3):113-20. 2000
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| 17 | CCD, RUNX2
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| Cleidocranial dysplasia : clinical and molecular genetics.
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| Mundlos S.
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| J Med Genet 36 : 177-182. 1999
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| 18 | RUNX2, CCD
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| CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.
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| Zhou G, et al.
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| Hum Mol Genet 8(12):2311-2316 1999
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| 19 | RUNX2, CCD
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| Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development.
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| Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, Stamp GW, Beddington RS, Mundlos S, Olsen BR, Selby PB, Owen MJ.
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| Cell 89(5):765-71. 1997
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| 20 | RUNX2, CCD
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| Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.
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| 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.
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| Cell 89(5):773-9. 1997
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| 21 | RUNX2, CCD
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| Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation.
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| Ducy P, Zhang R, Geoffroy V, Ridall AL, Karsenty G.
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| Cell 89(5):747-54. 1997
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| 22 | RUNX2, CCD
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| Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.
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| Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G.
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| Nat Genet 16(3):307-10. 1997
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| 23 | CCD
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| Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia.
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| Innis JW, Asher JH Jr, Liang Y, Wang A, Wilke CM, Dierick HA, Kazen-Gillespie K, Sheldon S, Glover TW, Friedman TB.
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| Am J Med Genet 71(3):292-7. 1997
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| 24 | CCD,RUNX2
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| Mapping of the gene for cleidocranial dysplasia in the historical (Arnold) kindred and evidence for locus homogeneity.
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| Ramesar RS, et al.
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| J Med Genet 33 : 511-514. 1996
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| 25 | CCD
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| A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.
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| Feldman GJ, et al.
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| Am J Hum Genet 56 : 938-943. 1995
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| 26 | CCD
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| Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion.
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| Gelb BD, et al.
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| Am J Hum Genet 58 : 200-205. 1995
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| 27 | CCD
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| Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.
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| Mundlos S, et al.
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| Hum Mol Genet 4 : 71-75. 1995
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| 28 | CCD
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| Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.
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| Brueton LA, et al.
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| Am J Med Genet 43 : 612-618. 1992
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