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
em 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
em Inglês
| MEDLINE | ID: mdl-37154149
3.
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
J Med Genet
; 59(2): 165-169, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33436522
4.
Neoforehead Remodelling Techniques for Fronto-Orbital Advancement and Remodelling in the Oxford Craniofacial Unit: Lateral Remodelling and a Novel Central Self-Stabilizing S-Osteotomy Technique.
J Craniofac Surg
; 34(1): 20-28, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-35905378
5.
Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.
J Craniofac Surg
; 33(6): 1847-1852, 2022 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761471
6.
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
em Inglês
| MEDLINE | ID: mdl-32266521
7.
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Genet Med
; 22(9): 1498-1506, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499606
8.
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Genet Med
; 22(9): 1567, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32636483
9.
Implications for the Multi-Disciplinary Management of Children With Craniofrontonasal Syndrome.
J Craniofac Surg
; 31(4): e362-e368, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32371695
10.
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Am J Hum Genet
; 99(1): 125-38, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374770
11.
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
em Inglês
| MEDLINE | ID: mdl-30758909
12.
Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.
Hum Mutat
; 39(10): 1360-1365, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30040876
13.
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
Am J Hum Genet
; 97(3): 378-88, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26340333
14.
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
J Med Genet
; 54(4): 260-268, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27884935
15.
Clinical genetics of craniosynostosis.
Curr Opin Pediatr
; 29(6): 622-628, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28914635
16.
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Hum Mutat
; 37(8): 732-6, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27158814
17.
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Hum Mol Genet
; 22(8): 1654-62, 2013 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23335590
18.
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
J Med Genet
; 51(11): 737-47, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25228304
19.
Long-term morphological outcomes in nonsyndromic sagittal craniosynostosis: a comparison of 2 techniques.
J Craniofac Surg
; 26(1): 19-25, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25569384
20.
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.
Am J Hum Genet
; 89(1): 67-81, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21741611