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Journal Abstract Search

149 related items for PubMed ID: 35169780

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment.
    Çamtosun E, Akıncı A, Demiral E, Tekedereli İ, Sığırcı A.
    J Clin Res Pediatr Endocrinol; 2019 Sep 03; 11(3):301-305. PubMed ID: 30468148
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Machol K, Mendoza-Londono R, Lee B.
    ; 1993 Mar 08. PubMed ID: 20301686
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Genome sequencing identified a novel exonic microdeletion in the RUNX2 gene that causes cleidocranial dysplasia.
    Zhang J, Li YZ, Chen WQ, Yuan JY, Li Q, Meng YX, Yu YD, Guo Q.
    Clin Chim Acta; 2022 Mar 01; 528():6-12. PubMed ID: 35065050
    [Abstract] [Full Text] [Related]

  • 7. Cleidocranial dysplasia: a case report.
    Karagüzel G, Aktürk FA, Okur E, Gümele HR, Gedik Y, Okten A.
    J Clin Res Pediatr Endocrinol; 2010 Mar 01; 2(3):134-6. PubMed ID: 21274329
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 18(2):184-90. PubMed ID: 22023169
    [Abstract] [Full Text] [Related]

  • 9. [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 01; 48(11):834-8. PubMed ID: 21215027
    [Abstract] [Full Text] [Related]

  • 10. RUNX2 mutations in cleidocranial dysplasia.
    Lee KE, Seymen F, Ko J, Yildirim M, Tuna EB, Gencay K, Kim JW.
    Genet Mol Res; 2013 Oct 15; 12(4):4567-74. PubMed ID: 24222232
    [Abstract] [Full Text] [Related]

  • 11. Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
    Beyltjens T, Boudin E, Revencu N, Boeckx N, Bertrand M, Schütz L, Haack TB, Weber A, Biliouri E, Vinkšel M, Zagožen A, Peterlin B, Pai S, Telegrafi A, Henderson LB, Ells C, Turner L, Wuyts W, Van Hul W, Hendrickx G, Mortier GR.
    J Med Genet; 2023 May 15; 60(5):498-504. PubMed ID: 36241386
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia.
    Mastushita M, Kitoh H, Subasioglu A, Kurt Colak F, Dundar M, Mishima K, Nishida Y, Ishiguro N.
    Mol Syndromol; 2015 Feb 15; 6(1):50-3. PubMed ID: 25852448
    [Abstract] [Full Text] [Related]

  • 14. RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia.
    Lin WD, Lin SP, Wang CH, Tsai Y, Chen CP, Tsai FJ.
    Genet Mol Biol; 2011 Apr 15; 34(2):201-4. PubMed ID: 21734816
    [Abstract] [Full Text] [Related]

  • 15. Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.
    Thaweesapphithak S, Saengsin J, Kamolvisit W, Theerapanon T, Porntaveetus T, Shotelersuk V.
    J Appl Oral Sci; 2022 Apr 15; 30():e20220028. PubMed ID: 35674542
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 71(4):724-38. PubMed ID: 12196916
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 30(2):184-93. PubMed ID: 12732182
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 76(2):78-85. PubMed ID: 16463420
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 96(5):429-438. PubMed ID: 31347140
    [Abstract] [Full Text] [Related]

  • 20. A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia.
    Lo Muzio L, Tetè S, Mastrangelo F, Cazzolla AP, Lacaita MG, Margaglione M, Campisi G.
    Ann Clin Lab Sci; 2007 Nov 15; 37(2):115-20. PubMed ID: 17522365
    [Abstract] [Full Text] [Related]

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