Understanding the Molecular Basis of Apert Syndrome

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Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

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Exclusive paternal origin of new mutations in Apert syndrome

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Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line

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Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.

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Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.

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Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

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Management of Craniosynostosis

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De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

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Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

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Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome

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The Paternal-Age Effect in Apert Syndrome Is Due, in Part, to the Increased Frequency of Mutations in Sperm

Glaser, R. L., Broman, K. W., Schulman, R. L., Eskenazi, B., Wyrobek, A. J., & Jabs, E. W. (2003) · The American Journal of Human Genetics · doi:10.1086/378419 · Cited by 182 · see citing works

A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes

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A confined variable region confers ligand specificity on fibroblast growth factor receptors: implications for the origin of the immunoglobulin fold.

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Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities

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Clinical variability in patients with Apert's syndrome

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Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity

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A novel form of fibroblast growth factor receptor 2. Alternative splicing of the third immunoglobulin-like domain confers ligand binding specificity.

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Genotype–phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery

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Treatment of the Hands and Feet in Apert Syndrome: An Evolution in Management

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The pleiotropic effects of fibroblast growth factor receptors in mammalian development.

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Prenatal fetoscopic diagnosis of the Apert syndrome

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Prenatal Diagnosis of Sporadic Apert Syndrome: A Sequential Diagnostic Approach Combining Three-Dimensional Computed Tomography and Molecular Biology

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Fibroblast growth factors, their receptors and receptor disorders

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The ultrasonic detection of Apert syndrome.

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Contribution of Tridimensional Sonography and Magnetic Resonance Imaging to Prenatal Diagnosis of Apert Syndrome at Mid-Trimester

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Children with Apert syndrome: behavioural problems and family stress

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Craniosynostosis

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Apert Syndrome (Acrocephalosyndactyly): A Rare Syndromic Craniosynostosis

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Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

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Two patients with Apert syndrome with different mutations: the importance of early diagnosis

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Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.

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