Search details
1.
Quantifying dysmorphologies of the neurocranium using artificial neural networks.
J Anat
; 2024 May 17.
Article
in English
| MEDLINE | ID: mdl-38760946
2.
Child-Patient Perspective on Results After Correction of Sagittal Synostosis and the Difference Between Child-Patient and Parent's Perspectives.
J Craniofac Surg
; 35(4): 1040-1044, 2024 Jun 01.
Article
in English
| MEDLINE | ID: mdl-38722327
3.
3D Analysis of the Cranial and Facial Shape in Craniosynostosis Patients: A Systematic Review.
J Craniofac Surg
; 2024 Mar 18.
Article
in English
| MEDLINE | ID: mdl-38498012
4.
The Development of a European Multidisciplinary Cleft Lip and Palate Registry by the European Reference Network CRANIO: Experiences, Barriers, And Facilitators.
J Craniofac Surg
; 2024 May 23.
Article
in English
| MEDLINE | ID: mdl-38781427
5.
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Genet Med
; 25(9): 100883, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37154149
6.
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.
J Med Genet
; 59(3): 305-312, 2022 03.
Article
in English
| MEDLINE | ID: mdl-33685999
7.
Early and long-term skull growth after surgical correction for sagittal synostosis in relation to the occurrence of papilledema.
Childs Nerv Syst
; 39(1): 211-220, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36053310
8.
Guideline on Treatment and Management of Craniosynostosis: Patient and Family Version.
J Craniofac Surg
; 34(1): 418-433, 2023.
Article
in English
| MEDLINE | ID: mdl-36472893
9.
What We Know About Intracranial Hypertension in Children With Syndromic Craniosynostosis.
J Craniofac Surg
; 34(7): 1903-1914, 2023 Oct 01.
Article
in English
| MEDLINE | ID: mdl-37487059
10.
Reliability and Agreement of Automated Head Measurements From 3-Dimensional Photogrammetry in Young Children.
J Craniofac Surg
; 34(6): 1629-1634, 2023 Sep 01.
Article
in English
| MEDLINE | ID: mdl-37307495
11.
Health-related Quality of Life in Children and Adolescents With Sagittal Synostosis.
J Craniofac Surg
; 34(8): 2284-2287, 2023.
Article
in English
| MEDLINE | ID: mdl-37681989
12.
Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study.
Cleft Palate Craniofac J
; : 10556656231199840, 2023 Sep 20.
Article
in English
| MEDLINE | ID: mdl-37728101
13.
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Am J Hum Genet
; 104(4): 709-720, 2019 04 04.
Article
in English
| MEDLINE | ID: mdl-30905399
14.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 24(10): 2051-2064, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35833929
15.
Cerebral cortex maldevelopment in syndromic craniosynostosis.
Dev Med Child Neurol
; 64(1): 118-124, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34265076
16.
The use of OCT to detect signs of intracranial hypertension in patients with sagittal suture synostosis: Reference values and correlations.
Childs Nerv Syst
; 38(10): 1937-1947, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35972534
17.
Accuracy of Detecting Obstructive Sleep Apnea Using Ambulatory Sleep Studies in Patients With Syndromic Craniosynostosis.
J Craniofac Surg
; 33(8): 2538-2542, 2022.
Article
in English
| MEDLINE | ID: mdl-35882227
18.
Prenatal Ultrasound Parameters of Twins With Sagittal Suture Craniosynostosis Question Mechanical Constraint as the Leading Cause.
J Craniofac Surg
; 33(8): 2350-2353, 2022.
Article
in English
| MEDLINE | ID: mdl-35864568
19.
Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
Eur J Orthod
; 44(3): 287-293, 2022 05 24.
Article
in English
| MEDLINE | ID: mdl-34424951
20.
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.
Hum Mol Genet
; 28(15): 2501-2513, 2019 08 01.
Article
in English
| MEDLINE | ID: mdl-31067316