PubMed (Bookshelf cited) for id: 3486

Year	Number of Results
1997	4
1998	1
1999	3
2000	2
2001	1
2002	4
2003	2
2004	2
2005	2
2007	1
2008	1
2009	3
2010	4
2011	2
2012	4
2013	3
2015	2
2016	2
2017	2
2018	3
2020	2
2021	2
2022	2
2023	0

1

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.

Muurinen M, Taylan F, Tournis S, Eisfeldt J, Balanika A, Vastardis H, Ala-Mello S, Mäkitie O, Costantini A. Muurinen M, et al. JBMR Plus. 2022 Jul 5;6(8):e10660. doi: 10.1002/jbm4.10660. eCollection 2022 Aug. JBMR Plus. 2022. PMID: 35991531 Free PMC article.

2

Variation among DNA banking consent forms: points for clinicians to bank on.

Huang SJ, Amendola LM, Sternen DL. Huang SJ, et al. J Community Genet. 2022 Aug;13(4):389-397. doi: 10.1007/s12687-022-00601-3. Epub 2022 Jul 14. J Community Genet. 2022. PMID: 35834113 Free PMC article.

3

Biallelic variants in RNU12 cause CDAGS syndrome.

Xing C, Kanchwala M, Rios JJ, Hyatt T, Wang RC, Tran A, Dougherty I, Tovar-Garza A, Purnadi C, Kumar MG, Berk D, Shinawi M, Irvine AD, Toledo-Bahena M, Agim NG, Glass DA 2nd. Xing C, et al. Hum Mutat. 2021 Aug;42(8):1042-1052. doi: 10.1002/humu.24239. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34085356

4

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

5

Molecular Genetics of Cleidocranial Dysplasia.

Motaei J, Salmaninejad A, Jamali E, Khorsand I, Ahmadvand M, Shabani S, Karimi F, Nazari MS, Ketabchi G, Naqipour F. Motaei J, et al. Fetal Pediatr Pathol. 2021 Oct;40(5):442-454. doi: 10.1080/15513815.2019.1710792. Epub 2020 Jan 26. Fetal Pediatr Pathol. 2021. PMID: 31984822

6

A novel Alu-mediated microdeletion in the RUNX2 gene in a Chinese patient with cleidocranial dysplasia.

Qian Y, Zhang Y, Wei B, Zhang M, Yang J, Leng C, Ge Z, Xu X, Sun M. Qian Y, et al. J Genet. 2018 Mar;97(1):137-143. J Genet. 2018. PMID: 29666333 Free article.

7

Cleidocranial Dysplasia: A Review of Clinical, Radiological, Genetic Implications and a Guidelines Proposal.

Farrow E, Nicot R, Wiss A, Laborde A, Ferri J. Farrow E, et al. J Craniofac Surg. 2018 Mar;29(2):382-389. doi: 10.1097/SCS.0000000000004200. J Craniofac Surg. 2018. PMID: 29189406 Review.

8

Genetic analysis of non-syndromic familial multiple supernumerary premolars.

Bae DH, Lee JH, Song JS, Jung HS, Choi HJ, Kim JH. Bae DH, et al. Acta Odontol Scand. 2017 Jul;75(5):350-354. doi: 10.1080/00016357.2017.1312515. Epub 2017 Apr 10. Acta Odontol Scand. 2017. PMID: 28393601

9

Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families.

Dinçsoy Bir F, Dinçkan N, Güven Y, Baş F, Altunoğlu U, Kuvvetli SS, Poyrazoğlu Ş, Toksoy G, Kayserili H, Uyguner ZO. Dinçsoy Bir F, et al. Eur J Med Genet. 2017 Mar;60(3):163-168. doi: 10.1016/j.ejmg.2016.12.007. Epub 2016 Dec 24. Eur J Med Genet. 2017. PMID: 28027977

10

Cleidocranial Dysplasia with 6p21.1-p12.3 Microdeletion: A Case Report and Literature Review.

Puvabanditsin S, February M, Mayne J, McConnell J, Mehta R. Puvabanditsin S, et al. Cleft Palate Craniofac J. 2018 Jul;55(6):891-894. doi: 10.1597/15-306. Epub 2018 Feb 26. Cleft Palate Craniofac J. 2018. PMID: 27500518 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

49 results

Results by year