PubMed for id: 355264

Year	Number of Results
1993	1
1996	1
2006	1
2009	2
2010	2
2011	2
2012	2
2013	3
2014	4
2015	7
2016	2
2017	7
2018	4
2019	7
2020	5
2021	8
2022	9
2023	4
2024	2

1

First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type.

Quinzi V, De Luca C, Giovannetti F, Splendiani A, Cocciadiferro D, Capolino R, Brancati F, Marzo G. Quinzi V, et al. Eur J Paediatr Dent. 2023 Dec 1;24(4):334-336. doi: 10.23804/ejpd.2023.24.04.03. Eur J Paediatr Dent. 2023. PMID: 38015115 Free article.

2

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.

Hennocq Q, Bongibault T, Marlin S, Amiel J, Attie-Bitach T, Baujat G, Boutaud L, Carpentier G, Corre P, Denoyelle F, Djate Delbrah F, Douillet M, Galliani E, Kamolvisit W, Lyonnet S, Milea D, Pingault V, Porntaveetus T, Touzet-Roumazeille S, Willems M, Picard A, Rio M, Garcelon N, Khonsari RH. Hennocq Q, et al. Front Pediatr. 2023 Aug 17;11:1171277. doi: 10.3389/fped.2023.1171277. eCollection 2023. Front Pediatr. 2023. PMID: 37664547 Free PMC article.

3

A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.

Ulhaq ZS, Soraya GV, Istifiani LA, Pamungkas SA, Arisanti D, Dini B, Astari LF, Hasan YTN, Ayudianti P, Kusuma MAS, Shodry S, Herawangsa S, Nurputra DK, Idaiani S, Tse WKF. Ulhaq ZS, et al. Cleft Palate Craniofac J. 2024 Apr;61(4):688-696. doi: 10.1177/10556656221136177. Epub 2022 Nov 1. Cleft Palate Craniofac J. 2024. PMID: 36317361

4

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.

Kohailan M, Al-Saei O, Padmajeya S, Aamer W, Elbashir N, Al-Shabeeb Akil A, Kamboh AR, Fakhro K. Kohailan M, et al. Cold Spring Harb Mol Case Stud. 2022 Jun 22;8(4):a006206. doi: 10.1101/mcs.a006206. Print 2022 Jun. Cold Spring Harb Mol Case Stud. 2022. PMID: 35732499 Free PMC article.

5

A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.

Yang M, Liu Y, Lin Z, Sun H, Hu T. Yang M, et al. J Clin Lab Anal. 2022 May;36(5):e24440. doi: 10.1002/jcla.24440. Epub 2022 Apr 18. J Clin Lab Anal. 2022. PMID: 35435265 Free PMC article.

6

Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?

Ryu JH, Kim HY, Ko JM, Kim MJ, Seong MW, Choi BY, Chae JH. Ryu JH, et al. Eur J Med Genet. 2022 May;65(5):104478. doi: 10.1016/j.ejmg.2022.104478. Epub 2022 Apr 5. Eur J Med Genet. 2022. PMID: 35395430

7

Prenatal features of mandibulofacial dysostosis Guion-Almeida Type.

Dragoi V, Nedelea F, Gica N, Botezatu R, Peltecu G, Panaitescu AM. Dragoi V, et al. J Med Life. 2021 Sep-Oct;14(5):722-725. doi: 10.25122/jml-2020-0082. J Med Life. 2021. PMID: 35027977 Free PMC article.

8

[Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].

Li X, Hong M, Dai P, Yuan Y. Li X, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Jan;36(1):36-40. doi: 10.13201/j.issn.2096-7993.2022.01.008. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022. PMID: 34979617 Free PMC article. Review. Chinese.

9

[Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type].

Yan L, Tian L, Cao J, Zhou B, Zhang Y, Liu Y, Han C, Li H. Yan L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Aug 10;38(8):791-794. doi: 10.3760/cma.j.cn511374-20200824-00621. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34365627 Chinese.

10

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.

Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Abell K, et al. Am J Med Genet A. 2021 Feb;185(2):413-423. doi: 10.1002/ajmg.a.61977. Epub 2020 Nov 27. Am J Med Genet A. 2021. PMID: 33247512 Free PMC article.

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