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Select item 101763351.

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

Tessi Beyltjens, Eveline Boudin, Nicole Revencu, Nele Boeckx, Miriam Bertrand, Leon Schütz, Tobias B Haack, Axel Weber, Eleni Biliouri, Mateja Vinkšel, Anja Zagožen, Borut Peterlin, Shashidhar Pai, Aida Telegrafi, Lindsay B Henderson, Courtney Ells, Lesley Turner, Wim Wuyts, Wim Van Hul, Gretl Hendrickx, Geert R Mortier

J Med Genet. 2023 May; 60(5): 498–504. Published online 2022 Oct 14. doi: 10.1136/jmg-2022-108739

PMCID:: PMC10176335

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Select item 100205912.

Amyloid-mediated remineralization for tooth hypoplasia of cleidocranial dysplasia

Xiaohe Guo, Xiaoxue Yang, Peisheng Liu, Xiaoyao Huang, Yang Gu, Hao Guo, Kun Xuan, Anqi Liu

Front Cell Infect Microbiol. 2023; 13: 1143235. Published online 2023 Mar 3. doi: 10.3389/fcimb.2023.1143235

PMCID:: PMC10020591

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Select item 99731113.

A Three-dimensional Analysis of Nasopharyngeal Airway Characteristics in Subjects with Cleidocranial Dysplasia: A CBCT Study

Saurabh Chaturvedi, Yogita Chaturvedi, Seema Chowdhary, Nitin Kararia, Vandana Kararia, Deepak Goyal

Int J Clin Pediatr Dent. 2022 Sep-Oct; 15(5): 520–524. doi: 10.5005/jp-journals-10005-2447

PMCID:: PMC9973111

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Select item 98985524.

Inhibition of miR338 rescues cleidocranial dysplasia in Runx2 mutant mice partially via the Hif1a-Vegfa axis

Runze Jin, Hanshu Zhang, Chujiao Lin, Jinqiang Guo, Weiguo Zou, Zhi Chen, Huan Liu

Exp Mol Med. 2023 Jan; 55(1): 69–80. Published online 2023 Jan 4. doi: 10.1038/s12276-022-00914-w

PMCID:: PMC9898552

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Select item 97140605.

Detection and diagnosis of cleidocranial dysplasia by panoramic radiography: a retrospective study

Yuchao Shi, Zelin Ye, Yuanyuan Liu, Hu Wang, Meng You

BMC Oral Health. 2022; 22: 558. Published online 2022 Dec 1. doi: 10.1186/s12903-022-02610-7

PMCID:: PMC9714060

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Select item 96493646.

Cleidocranial dysplasia with hypermobile Ehlers-Danlos syndrome: A case report

Rengin Ibrahim, Omar Hamadah, Mahmoud Abdul-Hak, Aladdin Alshawa, Mohamad Alhasan Alouda

Radiol Case Rep. 2023 Jan; 18(1): 289–294. Published online 2022 Nov 7. doi: 10.1016/j.radcr.2022.10.038

PMCID:: PMC9649364

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Select item 95479887.

Cleidocranial dysplasia—A case report of incidentally found and lately diagnosed disorder

Aayush Adhikari, Suraj Shrestha, Prabin Bhattarai, Surendra Khanal, Rajan Lamichhane, Ramesh Balayar, Sobin Panta, Kundan Marasini

Clin Case Rep. 2022 Oct; 10(10): e6440. Published online 2022 Oct 8. doi: 10.1002/ccr3.6440

Correction in:: Clin Case Rep. 2022 Dec; 10(12): e6732.

PMCID:: PMC9547988

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Select item 94546608.

A Novel lncRNA Mediates the Delayed Tooth Eruption of Cleidocranial Dysplasia

Yuejiao Xin, Yang Liu, Jie Li, Dandan Liu, Chenying Zhang, Yixiang Wang, Shuguo Zheng

Cells. 2022 Sep; 11(17): 2729. Published online 2022 Sep 1. doi: 10.3390/cells11172729

PMCID:: PMC9454660

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Select item 93224849.

A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia

Yanli Zhang, Xiaohong Duan

Genes (Basel) 2022 Jul; 13(7): 1128. Published online 2022 Jun 23. doi: 10.3390/genes13071128

PMCID:: PMC9322484

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Select item 923930010.

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations

Sermporn THAWEESAPPHITHAK, Jirawat SAENGSIN, Wuttichart KAMOLVISIT, Thanakorn THEERAPANON, Thantrira PORNTAVEETUS, Vorasuk SHOTELERSUK

J Appl Oral Sci. 2022; 30: e20220028. Published online 2022 Jun 6. doi: 10.1590/1678-7757-2022-0028

PMCID:: PMC9239300

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Select item 917064311.

Identification of a familial cleidocranial dysplasia with a novel RUNX2 mutation and establishment of patient-derived induced pluripotent stem cells

Atsuko Hamada, Hanae Mukasa, Yuki Taguchi, Eri Akagi, Fumitaka Obayashi, Sachiko Yamasaki, Taku Kanda, Koichi Koizumi, Shigeaki Toratani, Tetsuji Okamoto

Odontology. 2022; 110(3): 444–451. Published online 2021 Nov 15. doi: 10.1007/s10266-021-00674-5

PMCID:: PMC9170643

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Select item 914239712.

Demographic, clinical, and radiological characteristics of cleidocranial dysplasia: A systematic review of cases reported in south America

Eder Cano-Pérez, Claudio Gómez-Alegría, Fredy Pomares Herrera, Doris Gómez-Camargo, Dacia Malambo-García

Ann Med Surg (Lond) 2022 May; 77: 103611. Published online 2022 Apr 10. doi: 10.1016/j.amsu.2022.103611

PMCID:: PMC9142397

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Select item 912011313.

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia

Lei Gong, Bekzod Odilov, Feng Han, Fuqiang Liu, Yujing Sun, Ningxin Zhang, Xiaolin Zuo, Jiaojiao Yang, Shouyu Wang, Xinguo Hou, Jianmin Ren

Genes Genomics. 2022; 44(6): 683–690. Published online 2022 Mar 2. doi: 10.1007/s13258-022-01229-w

PMCID:: PMC9120113

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Select item 892587814.

Appropriateness of standard cephalometric norms for the assessment of dentofacial characteristics in patients with cleidocranial dysplasia

Fabio Savoldi, Francesca Del Re, Ingrid Tonni, Min Gu, Domenico Dalessandri, Luca Visconti

Dentomaxillofac Radiol. 2022 Mar 1; 51(3): 20210015. Published online 2021 Nov 17. doi: 10.1259/dmfr.20210015

PMCID:: PMC8925878

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Select item 883741715.

Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation

Aysel Kalayci Yigin, Mehmet Bugrahan Duz, Mehmet Seven

Glob Med Genet. 2022 Mar; 9(1): 23–28. Published online 2021 Oct 22. doi: 10.1055/s-0041-1736482

PMCID:: PMC8837417

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Select item 871084416.

Clinical‐radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series

Javier Ignacio Segovia‐Fuentes, Jorge Armando Egurrola‐Pedraza, Edgar Junior Castro‐Mendoza, Eder Cano‐Pérez, Doris Esther Gómez‐Camargo, Dacia Isabel Malambo‐García

Clin Case Rep. 2021 Dec; 9(12): e05235. Published online 2021 Dec 26. doi: 10.1002/ccr3.5235

PMCID:: PMC8710844

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Select item 870925817.

Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report

Alessio Danilo Inchingolo, Assunta Patano, Giovanni Coloccia, Sabino Ceci, Angelo Michele Inchingolo, Grazia Marinelli, Giuseppina Malcangi, Valentina Montenegro, Claudia Laudadio, Giulia Palmieri, Ioana Roxana Bordea, Emanuela Ponzi, Paola Orsini, Romina Ficarella, Antonio Scarano, Felice Lorusso, Gianna Dipalma, Massimo Corsalini, Mattia Gentile, Daniela Di Venere, Francesco Inchingolo

Medicina (Kaunas) 2021 Dec; 57(12): 1350. Published online 2021 Dec 10. doi: 10.3390/medicina57121350

PMCID:: PMC8709258

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Select item 858923018.

Whole-exome sequencing of a novel initiation codon mutation in RUNX2 in a Chinese family with cleidocranial dysplasia

Liyuan Yang, Genqi Lu, Wenjing Shen, Wenjing Chen, Haiyan Lu, Guozhong Zhang, Shuo Yuan, Shushen Zheng, Jiabao Ren

Medicine (Baltimore) 2021 Nov 12; 100(45): e27746. Published online 2021 Nov 12. doi: 10.1097/MD.0000000000027746

PMCID:: PMC8589230

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Select item 856073419.

An Exploration of Mutagenesis in a Family with Cleidocranial Dysplasia without RUNX2 Mutation

Dandan Liu, Yang Liu, XianLi Zhang, Yixiang Wang, Chenying Zhang, Shuguo Zheng

Front Genet. 2021; 12: 748111. Published online 2021 Oct 19. doi: 10.3389/fgene.2021.748111

PMCID:: PMC8560734

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Select item 850898620.

Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression

Luca Dalle Carbonare, Franco Antoniazzi, Alberto Gandini, Silvia Orsi, Jessica Bertacco, Veronica Li Vigni, Arianna Minoia, Francesca Griggio, Massimiliano Perduca, Monica Mottes, Maria Teresa Valenti

Int J Mol Sci. 2021 Oct; 22(19): 10336. Published online 2021 Sep 25. doi: 10.3390/ijms221910336

PMCID:: PMC8508986

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