Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis
AOM Wilkie, JC Byren, JA Hurst, J Jayamohan… - …, 2010 - publications.aap.org
OBJECTIVES: We describe the first cohort-based analysis of the impact of genetic disorders
in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis …
in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis …
Clinical dividends from the molecular genetic diagnosis of craniosynostosis
AOM Wilkie, EG Bochukova… - American Journal of …, 2006 - Wiley Online Library
A dozen years have passed since the first genetic lesion was identified in a family with
craniosynostosis, the premature fusion of the cranial sutures. Subsequently, mutations in the …
craniosynostosis, the premature fusion of the cranial sutures. Subsequently, mutations in the …
Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses
NB Agochukwu, BD Solomon, M Muenke - Child's Nervous System, 2012 - Springer
Purpose More than 60 different mutations have been identified to be causal in syndromic
forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth …
forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth …
Closing the gap: genetic and genomic continuum from syndromic to nonsyndromic craniosynostoses
Y Heuzé, G Holmes, I Peter, JT Richtsmeier… - … genetic medicine reports, 2014 - Springer
Craniosynostosis, a condition that includes the premature fusion of one or multiple cranial
sutures, is a relatively common birth defect in humans and the second most common …
sutures, is a relatively common birth defect in humans and the second most common …
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis
S Kan, N Elanko, D Johnson, L Cornejo-Roldan… - The American Journal of …, 2002 - cell.com
It has been known for several years that heterozygous mutations of three members of the
fibroblast growth-factor–receptor family of signal-transduction molecules—namely, FGFR1 …
fibroblast growth-factor–receptor family of signal-transduction molecules—namely, FGFR1 …
[HTML][HTML] Genetic syndromes associated with craniosynostosis
JM Ko - Journal of Korean Neurosurgical Society, 2016 - synapse.koreamed.org
Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It
leads not only to secondary distortion of skull shape but to various complications including …
leads not only to secondary distortion of skull shape but to various complications including …
Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis
J Greenwood, P Flodman, K Osann, SA Boyadjiev… - Genetics in …, 2014 - nature.com
Purpose: Craniosynostosis is a common cranial malformation occurring in 1 per 2,000–
2,500 births. Isolated defects (nonsyndromic) occur in~ 75% of cases and are thought to …
2,500 births. Isolated defects (nonsyndromic) occur in~ 75% of cases and are thought to …
Syndromic craniosynostosis: complexities of clinical care
J O''Hara, F Ruggiero, L Wilson, G James… - Molecular …, 2019 - karger.com
Patients with syndromic craniosynostosis have a molecularly identified genetic cause for the
premature closure of their cranial sutures and associated facial and extra-cranial features …
premature closure of their cranial sutures and associated facial and extra-cranial features …
Genetics of nonsyndromic craniosynostosis
AT Timberlake, JA Persing - Plastic and reconstructive surgery, 2018 - journals.lww.com
Occurring once in every 2000 live births, craniosynostosis is one of the most frequent
congenital anomalies encountered by the craniofacial surgeon. Syndromic …
congenital anomalies encountered by the craniofacial surgeon. Syndromic …
A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?
D Johnson, SA Wall, S Mann, AOM Wilkie - European Journal of Human …, 2000 - nature.com
Mutations in the fibroblast growth factor receptor 1, 2 and 3 (FGFR1,-2 and-3) and TWIST
genes have been identified in several syndromic forms of craniosynostosis. There remains …
genes have been identified in several syndromic forms of craniosynostosis. There remains …