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Journal Abstract Search

181 related items for PubMed ID: 27299035

  • 21. 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; 96(5):429-438. PubMed ID: 31347140
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  • 23. Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.
    Kalayci Yigin A, Duz MB, Seven M.
    Glob Med Genet; 2022 Mar; 9(1):23-28. PubMed ID: 35169780
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  • 25. New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.
    Toral López J, Gómez Martinez S, Rivera Vega MDR, Hernández-Zamora E, Cuevas Covarrubias S, Ibarra Castrejón BA, González Huerta LM.
    Biology (Basel); 2024 Mar 08; 13(3):. PubMed ID: 38534443
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  • 26. A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review.
    Hsueh SJ, Lee NC, Yang SH, Lin HI, Lin CH.
    BMC Neurol; 2017 Jan 06; 17(1):2. PubMed ID: 28056872
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  • 27. Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
    Jaruga A, Hordyjewska E, Kandzierski G, Tylzanowski P.
    Clin Genet; 2016 Nov 06; 90(5):393-402. PubMed ID: 27272193
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  • 28. Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia.
    Bergwitz C, Prochnau A, Mayr B, Kramer FJ, Rittierodt M, Berten HL, Hausamen JE, Brabant G.
    J Inherit Metab Dis; 2001 Nov 06; 24(6):648-56. PubMed ID: 11768584
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  • 29. Anomalies of craniofacial skeleton and teeth in cleidocranial dysplasia.
    Kreiborg S, Jensen BL, Larsen P, Schleidt DT, Darvann T.
    J Craniofac Genet Dev Biol; 1999 Nov 06; 19(2):75-9. PubMed ID: 10416150
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  • 31. Prenatal diagnosis of cleidocranial dysplasia: Case report on two cases with a negative family history.
    Han R, Zhang C, Fu X, Zhu Z, Wang X, Li H.
    Heliyon; 2024 May 15; 10(9):e29816. PubMed ID: 38737280
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  • 32. 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 15; 63(3):190-8. PubMed ID: 12132307
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  • 37. 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 15; 57(5):1003-6. PubMed ID: 26286462
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  • 38. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
    Otto F, Kanegane H, Mundlos S.
    Hum Mutat; 2002 Mar 15; 19(3):209-16. PubMed ID: 11857736
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  • 39. Cleidocranial dysplasia: Radiological mimic of pyknodysostosis - A case report.
    Kaur H, Gupta K, Tiwari P.
    SA J Radiol; 2018 Mar 15; 22(1):1326. PubMed ID: 31754500
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  • 40. Cleidocranial dysplasia.
    Kutilek S, Machytka R, Munzar P.
    Sudan J Paediatr; 2019 Mar 15; 19(2):165-168. PubMed ID: 31969747
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