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Page 1
Apert Syndrome: Selection Rationale for Midface Advancement Technique.
Raposo-Amaral CE, Ghizoni E, Raposo-Amaral CA. Raposo-Amaral CE, et al. Adv Tech Stand Neurosurg. 2023;46:245-266. doi: 10.1007/978-3-031-28202-7_13. Adv Tech Stand Neurosurg. 2023. PMID: 37318579 Review.
Apert syndrome is characterized by a wide spectrum of craniofacial clinical features that have been successfully addressed via a variety of midface advancement techniques. ...The purpose of this review article is to present and discuss our rationale for midface adva
Apert syndrome is characterized by a wide spectrum of craniofacial clinical features that have been successfully addressed via
Apert Syndrome Type III Hand: Prevalence and Outcomes.
Raposo-Amaral CE, Medeiros LL, Raposo-Amaral CA. Raposo-Amaral CE, et al. J Craniofac Surg. 2023 Jun 1;34(4):1170-1173. doi: 10.1097/SCS.0000000000009107. Epub 2022 Nov 1. J Craniofac Surg. 2023. PMID: 36730868
BACKGROUND: The Upton type III hand, which represents the most severe hand type among Apert syndrome patients, has been considered the least prevalent hand type. The objective of this study is to address type III Apert hand prevalence and describe treatment strategi …
BACKGROUND: The Upton type III hand, which represents the most severe hand type among Apert syndrome patients, has been consid …
Apert syndrome: a rare clinical image.
Samhitha CS, Subramanyam C. Samhitha CS, et al. Pan Afr Med J. 2023 May 8;45:24. doi: 10.11604/pamj.2023.45.24.38946. eCollection 2023. Pan Afr Med J. 2023. PMID: 37521759 Free PMC article. No abstract available.
Distraction Lengthening of the Apert Thumb.
Upton J, McNamara CT, Ali B, Nuzzi LC, Taghinia AH, Labow BI. Upton J, et al. Plast Reconstr Surg. 2022 Apr 1;149(4):691e-699e. doi: 10.1097/PRS.0000000000008929. Plast Reconstr Surg. 2022. PMID: 35157629
BACKGROUND: The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to functional hand impairment. ...RESULTS: Twenty-two patients (41 thumbs) with Apert syndrome were identified and treated (mean age …
BACKGROUND: The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to fun …
FGFR2 residence in primary cilia is necessary for epithelial cell signaling.
Nita A, Abraham SP, Elrefaay ER, Fafilek B, Cizkova E, Ursachi VC, Gudernova I, Koudelka A, Dudeja P, Gregor T, Feketova Z, Rico G, Svozilova K, Celiker C, Czyrek AA, Barta T, Trantirek L, Wiedlocha A, Krejci P, Bosakova M. Nita A, et al. J Cell Biol. 2025 Jul 7;224(7):e202311030. doi: 10.1083/jcb.202311030. Epub 2025 Apr 21. J Cell Biol. 2025. PMID: 40257378 Free PMC article.
We also show that the pathogenic FGFR2 variants have minimal cilium presence, which can be rescued for the p.P253R variant associated with the Apert syndrome by using the RLY-4008 kinase inhibitor. Finally, we determine the molecular regulators of FGFR2 trafficking …
We also show that the pathogenic FGFR2 variants have minimal cilium presence, which can be rescued for the p.P253R variant associated with t …
Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis.
Alam MK, Alfawzan AA, Srivastava KC, Shrivastava D, Ganji KK, Manay SM. Alam MK, et al. Sci Rep. 2022 Apr 5;12(1):5708. doi: 10.1038/s41598-022-09764-y. Sci Rep. 2022. PMID: 35383244 Free PMC article.
This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnosed) on craniofacial cephalometric characteristics (CCC) to combine publicly available scientific information while also improving the validi …
This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnos …
Orthognathic Surgery in Patients with Syndromic Craniosynostosis.
Han JT, Egbert MA, Ettinger RE, Kapadia HP, Susarla SM. Han JT, et al. Oral Maxillofac Surg Clin North Am. 2022 Aug;34(3):477-487. doi: 10.1016/j.coms.2022.01.003. Epub 2022 Jul 2. Oral Maxillofac Surg Clin North Am. 2022. PMID: 35787829 Review.
Congenital musculoskeletal anomalies - key radiographic findings.
Gill KG. Gill KG. Pediatr Radiol. 2022 Apr;52(4):777-785. doi: 10.1007/s00247-021-05200-x. Epub 2021 Nov 3. Pediatr Radiol. 2022. PMID: 34731287 Review.
Diagnoses such as congenital pseudoarthrosis of the clavicle, Apert syndrome, constriction band syndrome, and proximal focal femoral deficiency have pathognomonic imaging findings. ...
Diagnoses such as congenital pseudoarthrosis of the clavicle, Apert syndrome, constriction band syndrome, and proximal focal f …
81 results