Craniosynostosis: genes and mechanisms

AOM Wilkie - Human molecular genetics, 1997 - academic.oup.com
Enlargement of the skull vault occurs by appositional growth at the fibrous joints between the
bones, termed cranial sutures. Relatively little is known about the developmental biology of …

Genetics of craniosynostosis

V Kimonis, JA Gold, TL Hoffman, J Panchal… - Seminars in pediatric …, 2007 - Elsevier
Craniosynostosis is a defect of the skull caused by early fusion of one or more of the cranial
sutures and affects 3 to 5 individuals per 10,000 live births. Craniosynostosis can be divided …

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

EW Jabs, U Müller, X Li, L Ma, W Luo, IS Haworth… - Cell, 1993 - cell.com
Craniosynostosis, the premature fusion of calvarial sutures, is a common developmental
anomaly that causes abnormal skull shape. The locus for one autosomal dominant form of …

[HTML][HTML] Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes

SH Settle Jr, RB Rountree, A Sinha, A Thacker… - Developmental …, 2003 - Elsevier
Growth/differentiation factors 5, 6, and 7 (GDF5/6/7) represent a distinct subgroup within the
bone morphogenetic protein (BMP) family of secreted signaling molecules. Previous studies …

[图书][B] An invariant approach to statistical analysis of shapes

SR Lele, JT Richtsmeier - 2001 - taylorfrancis.com
Natural scientists perceive and classify organisms primarily on the basis of their appearance
and structure-their form, defined as that characteristic remaining invariant after translation …

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

P Rutland, LJ Pulleyn, W Reardon, M Baraitser… - Nature …, 1995 - nature.com
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in
Crouzon syndrome, an autosomal dominant condition causing premature fusion of the …

Early management of craniosynostosis using endoscopic-assisted strip craniectomies and cranial orthotic molding therapy

DF Jimenez, CM Barone, CC Cartwright, L Baker - Pediatrics, 2002 - publications.aap.org
Objective. To assess the safety, efficacy, and results of the early treatment of infants with
craniosynostosis using minimally invasive endoscopic strip craniectomies and postoperative …

Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis

MM Cohen Jr - American journal of medical genetics, 1993 - Wiley Online Library
Seven Pfeiffer syndrome pedigrees (three 3 generation and four 2 generation) have been
recorded to date in addition to at least a dozen sporadic cases. Autosomal dominant …

[HTML][HTML] Pierre Robin sequence and 3D printed personalized composite appliances in interdisciplinary approach

A Thurzo, B Šufliarsky, W Urbanová, M Čverha… - Polymers, 2022 - mdpi.com
This paper introduces a complex novel concept and methodology for the creation of
personalized biomedical appliances 3D-printed from certified biocompatible photopolymer …

Why do we fail in aging the skull from the sagittal suture?

I Hershkovitz, B Latimer, O Dutour… - American Journal of …, 1997 - Wiley Online Library
The controversy over the reliability of ectocranial suture status (open vs. closed) as an age
estimation stimulated the pursuit of Meindl and Lovejoy's suggestion (Meindl and Lovejoy …