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124 related items for PubMed ID: 11321595
21. 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 [Abstract] [Full Text] [Related]
22. 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 Apr; 30(2):184-93. PubMed ID: 12732182 [Abstract] [Full Text] [Related]
23. A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. Giannotti A, Tessa A, Patrono C, Florio LD, Velardo M, Dionisi-Vici C, Bertini E, Santorelli FM. Hum Mutat; 2000 Sep; 16(3):277. PubMed ID: 10980549 [No Abstract] [Full Text] [Related]
24. 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 30; 89(5):773-9. PubMed ID: 9182765 [Abstract] [Full Text] [Related]
25. Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. Morava E, Kárteszi J, Weisenbach J, Caliebe A, Mundlos S, Méhes K. Eur J Pediatr; 2002 Nov 30; 161(11):619-22. PubMed ID: 12424590 [Abstract] [Full Text] [Related]
26. 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 30; 37(5):772-776. PubMed ID: 29058294 [Abstract] [Full Text] [Related]
27. Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. Kim HJ, Nam SH, Kim HJ, Park HS, Ryoo HM, Kim SY, Cho TJ, Kim SG, Bae SC, Kim IS, Stein JL, van Wijnen AJ, Stein GS, Lian JB, Choi JY. J Cell Physiol; 2006 Apr 30; 207(1):114-22. PubMed ID: 16270353 [Abstract] [Full Text] [Related]
28. 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 30; 88(9):861-6. PubMed ID: 19767586 [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 30; 16(1):55-60. PubMed ID: 19744171 [Abstract] [Full Text] [Related]
30. 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 30; 18(2):184-90. PubMed ID: 22023169 [Abstract] [Full Text] [Related]
31. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Otto F, Kanegane H, Mundlos S. Hum Mutat; 2002 Mar 30; 19(3):209-16. PubMed ID: 11857736 [Abstract] [Full Text] [Related]
32. [A Chinese girl with cleidocranial dysplasia (CCD) caused by the recurrent R190W mutation in RUNX 2]. Qiu ZQ, Tang AL, Yu W, Ao Y, Wilson HY, Wei M, Zhang X. Zhonghua Er Ke Za Zhi; 2004 Oct 30; 42(10):759-61. PubMed ID: 16221346 [Abstract] [Full Text] [Related]
33. Familial cleidocranial dysplasia misdiagnosed as rickets over three generations. Franceschi R, Maines E, Fedrizzi M, Piemontese MR, De Bonis P, Agarwal N, Bellizzi M, Di Palma A. Pediatr Int; 2015 Oct 30; 57(5):1003-6. PubMed ID: 26286462 [Abstract] [Full Text] [Related]
34. 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 30; 10(4):222-5. PubMed ID: 17973689 [Abstract] [Full Text] [Related]
35. A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails. Tang S, Xu Q, Xu X, Du J, Yang X, Jiang Y, Wang X, Speck N, Huang T. BMC Med Genet; 2007 Dec 31; 8():82. PubMed ID: 18166138 [Abstract] [Full Text] [Related]
39. A novel RUNX2 mutation in cleidocranial dysplasia patients. Xuan D, Li S, Zhang X, Lin L, Wang C, Zhang J. Biochem Genet; 2008 Dec 31; 46(11-12):702-7. PubMed ID: 18777095 [Abstract] [Full Text] [Related]