Detalhe da pesquisa
1.
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.
J Anat
; 2024 May 17.
Artigo
Inglês
| MEDLINE | ID: mdl-38760592
2.
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Genet Med
; 25(9): 100883, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37154149
3.
ERF-related craniosynostosis and surgical management in the paediatric cohort.
Childs Nerv Syst
; 39(4): 983-988, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36209295
4.
Psychological Adjustment in Apert Syndrome: Parent and Young Person Perspectives.
Cleft Palate Craniofac J
; 60(4): 461-473, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34967688
5.
Posterior Calvarial Distraction in older paediatric population: single centre paediatric neurosurgery craniofacial unit outcomes.
Childs Nerv Syst
; 38(7): 1341-1348, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35460356
6.
A Simple Method for Eye Protection During Prone Positioning for Craniofacial Surgery.
Cleft Palate Craniofac J
; 59(3): 399-401, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33882705
7.
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Hum Genet
; 139(8): 1077-1090, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32266521
8.
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Am J Med Genet A
; 179(4): 615-627, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30758909
9.
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
J Med Genet
; 54(4): 260-268, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27884935
10.
Empowerment of Parents of Children With Craniosynostosis by Objective Scoring of Patient Information Websites.
J Craniofac Surg
; 27(4): 874-5, 2016 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-27192636
11.
Isolated Unilateral Frontosphenoidal Suture Synostosis in Six Patients: Lessons Learned in Diagnosis and Treatment.
J Craniofac Surg
; 27(4): 871-3, 2016 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-27152571
12.
The Quality of Life in Adult Patients With Syndromic Craniosynostosis From Their Perspective.
J Craniofac Surg
; 27(6): 1510-4, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-27438436
13.
Posterior calvarial vault expansion using distraction osteogenesis.
Childs Nerv Syst
; 25(2): 231-6, 2009 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19057909
14.
The increase of metopic synostosis: a pan-European observation.
J Craniofac Surg
; 20(2): 283-6, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19326483