Results 81 to 90 of about 2,067 (196)

Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans [PDF]

open access: yes, 2017
Specific germline activating point mutations in the gene encoding the tyrosine kinase receptor FGFR3 (fibroblast growth factor receptor 3) result in autosomal dominant human skeletal dysplasias.
Blanche, Martine   +11 more
core  

Holographic model of craniosynostosis for HoloLens [PDF]

open access: yesActa Cirúrgica Brasileira
Purpose: To develop a holographic skull model of a deformity resulting from craniosynostosis for the HoloLens. Methods: The methodology for product creation and prototyping was the design thinking structured with the double diamond.
Mauricio Mitsuru Yoshida   +5 more
doaj   +1 more source

Genetic bases of craniosynostoses: An update

open access: yesNeurochirurgie, 2019
Craniosynostosis (CS) is defined as the premature fusion of cranial sutures, leading to an abnormal skull shape. The overall incidence is between 1: 2,000 and 1: 3,000 live births. Genetic causes are found in 20% of cases. CS can be isolated (non-syndromic CS/NSCS) or they can be part of multiple congenital abnormalities syndromes (syndromic CS/SCS). A
Armand, T.   +5 more
openaire   +4 more sources

Augmentation of smad‐dependent BMP signaling in neural crest cells causes craniosynostosis in mice [PDF]

open access: yes, 2013
Craniosynostosis describes conditions in which one or more sutures of the infant skull are prematurely fused, resulting in facial deformity and delayed brain development.
Fukuda, Tomokazu   +8 more
core   +1 more source

Anterior plagiocephaly- A report of a case and operative technique

open access: yesZdravniški Vestnik, 2017
Anterior plagiocephaly is a result of premature unilateral fusion of the coronary suture. It is the third most common form of non-syndromic craniosynostoses.
Peter Spazzapan   +3 more
doaj  

Crouzon syndrome: An unwanted family heirloom

open access: yesTNOA Journal of Ophthalmic Science and Research
Craniosynostoses are syndromes characterized by premature fusion of sutures of the skull and Crouzon syndrome is the most common of the craniosynostosis syndromes. Early fusion of sutures causes craniofacial anomalies.
Neeharika P Shah, Omkar N Gadre
doaj   +1 more source

Effects of uterine cervix constriction on Wistar rats Efeitos da constrição do cérvix uterino em ratos Wistar

open access: yesActa Cirúrgica Brasileira, 2010
PURPOSE: To verify if uterine cerclage can induce craniosynostosis or any cranial deformity in new born Wistar rats. METHODS: One pregnant female Wistar rat underwent laparotomy on day 18 of gestation and the uterus cervix was closed with a 3-0 nylon ...
Cassio Eduardo Raposo-Amaral   +5 more
doaj   +1 more source

Sagittal craniosynostosis combined with ossified cephalhematoma—a tricky and demanding puzzle [PDF]

open access: yes, 2018
Introduction: Four cases of sagittal synostosis combined with ossified cephalhematoma prompted the authors to present the data and to discuss the implications.
Kaiser, Georges, Oesch, Valérie
core  

Diagnosis and treatment of craniosynostosis: Vilnius team experience

open access: yesActa Medica Lituanica, 2015
Background. The aim of the study was to review the methods of diagnosis of craniosynostosis and to analyze Vilnius (Lithuania) team experience of surgical treatment, surgical methods, aspects of anesthesia for patients with craniosynostosis and to ...
Linas Zaleckas   +6 more
doaj   +1 more source

Aspectos fonoaudiológicos na síndrome de Crouzon: estudo de caso Speech-language aspects on Crouzon syndrome: case study

open access: yesRevista CEFAC, 2008
TEMA: descrever os aspectos fonoaudiológicos de um caso de Síndrome de Crouzon, com idade de 6:4 anos, submetendo-o às avaliações das áreas de fala, linguagem, cognição, sistema estomatognático e audição.
Isabela Gomes   +4 more
doaj   +1 more source

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