Results 41 to 50 of about 2,103 (210)

Fibroblast Growth Factor (FGF) Receptor Mutations: A Pathway to Understanding Multigenic Risk in Disease?

International Journal of Medical Students, 2013
Fibroblast growth factor receptor (FGFR) gain-of-function mutations form the pathogenic basis of multiple congenital pathologies. A pioneering body of work over the past two decades has established that a unique mutation selection process within the ...
Stuart J. Mires
doaj   +1 more source

Phenotypic Expression of Two Candidate Genes of Nonsyndromic Craniosynostosis in Danio rerio [PDF]

, 2020
Phenotypic Expression of Two Candidate Genes of Nonsyndromic Craniosynostosis in Danio rerio Annemarie Carver, Dept. of Biology with Dr. Rita Shiang, Dept.
Carver, Annemarie
core   +1 more source

Congenital malformations [PDF]

, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +1 more source

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features [PDF]

, 2013
BACKGROUND: Triplication is a rare chromosomal anomaly. We identified a de novo triplication of 11q12.3 in a patient with developmental delay, distinctive facial features, and others.
Kayoko Saito, Keiko Shimojima, Mari Matsuo, Noriko Sangu, Seijiro Aso, Shino Shimada, Toshiyuki Yamamoto   +6 more
core   +1 more source

Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108634/1/bdrc21075 ...
Achilleos, Ashokan, Bassett, Boutros, Burstyn-Cohen, Cooper, Creuzet, Dixon, Douarin, Douarin, Dudas, Ezaldein, Graham, Green, Hou, Hsu, Huang, Ibrahimi, Ishii, Ito, Jabs, Jones, Kaartinen, Lalani, Loeys, Matera, Minoux, Mishina, Miura, Nagashima, Noden, Papangeli, Pelaez, Perez-Alcala, Pingault, Reardon, Rinon, Rogers, Roscioli, Sanger, Santagati, Shprintzen, Simoes-Costa, Southard-Smith, Takahashi, Theveneau, Theveneau, Trainor, Wang, Winograd, Xu, Young   +51 more
core   +1 more source

Pictorial essay: The many faces of craniosynostosis

Indian Journal of Radiology and Imaging, 2011
Craniosynostosis is a common condition in the pediatric age group, which may either be isolated or may present as part of a craniofacial syndrome. This pictorial review illustrates the underlying mechanisms and pathophysiology of craniosynostosis, the ...
Paritosh C Khanna, Mahesh M Thapa, Ramesh S Iyer, Shashank S Prasad   +3 more
doaj   +1 more source

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes – a literature review and three case reports [PDF]

, 2016
Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes.
Jakovljević, A., Lazić, E., Nedeljković, N., Nikodijević Latinović, A.   +3 more
core   +3 more sources

Advanced parental age: Is it contributing to an increased incidence of non-syndromic craniosynostosis? A review of case-control studies

Journal of Oral Biology and Craniofacial Research, 2021
Background: Craniosynostosis (CS) is a congenital birth defect characterized by the premature fusion of one or several calvarial suture(s). CS could lead to serious complications, such as intracranial hypertension and neurodevelopmental impairment. There
Kenzy Abdelhamid, Rea Konci, Hassan ElHawary, Andrew Gorgy, Lee Smith   +4 more
doaj   +1 more source

Apert syndrome: the Paris and Rotterdam philosophy [PDF]

, 2017
Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet.
Arnaud, E. (Eric), Bredero-Boelhouwer, H.H. (Hansje), Driessen, C. (Caroline), Joosten, K.F.M. (Koen), Mathijssen, I.M.J. (Irene), Nieuwenhoven, C.A. (Christianne) van, Veelen-Vincent, M.L.C. (Marie-Lise) van, Versnel, S.L. (Sarah), Wolvius, E.B. (Eppo)   +8 more
core   +2 more sources

Initial In Vivo Analyses of Small Pore Polymer Scaffolds for Creation of an Artificial Cranial Stem Cell Niche

Bioengineering
Craniosynostosis is the premature fusion of skull bones due to loss of stem/progenitor cells located in non-mineralized tissue between growing cranial bones of infants.
Elizabeth Soulas, W. Benton Swanson, Hwa Kyung Nam, Kelsey Gruber, Yuji Mishina, Nan E. Hatch   +5 more
doaj   +1 more source