Associated Papers
Aberrantly activated Wnt/β-catenin pathway co-receptors LRP5 and LRP6 regulate osteoblast differentiation in the developing coronal sutures of an Apert syndrome (Fgfr2S252W/+ ) mouse model.
Min Swe NM et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021
Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome.
Çetinkaya A et al.
The Turkish Journal of Pediatrics, 2017
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
Ibarra-Arce A et al.
Genetics and Molecular Research : Gmr, 2015
Apert's Syndrome.
Kumar GR et al.
International Journal of Clinical Pediatric Dentistry, 2014
Therapeutic effect of nanogel-based delivery of soluble FGFR2 with S252W mutation on craniosynostosis.
Yokota M et al.
Plos One, 2014
Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling.
Athanasiadis AP et al.
Fetal Diagnosis and Therapy, 2008
Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations.
Jadico SK et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2006
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
Buzin CH et al.
Human Mutation, 2005
A soluble form of fibroblast growth factor receptor 2 (FGFR2) with S252W mutation acts as an efficient inhibitor for the enhanced osteoblastic differentiation caused by FGFR2 activation in Apert syndrome.
Tanimoto Y et al.
The Journal of Biological Chemistry, 2004
Are children of older fathers at risk for genetic disorders?
Jung A et al.
Andrologia, 2003
Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis.
Sakai N et al.
The Journal of Craniofacial Surgery, 2001
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
Reardon W et al.
Journal of Medical Genetics, 2000
Epidermal mosaicism producing localised acne: somatic mutation in FGFR2.
Munro CS et al.
Lancet (london, England), 1998
Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome.
Matsumoto K et al.
Plastic and Reconstructive Surgery, 1998
Recent advances in molecular analysis of skeletal dysplasia.
Ozono K
Acta Paediatrica Japonica : Overseas Edition, 1997
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Oldridge M et al.
Human Molecular Genetics, 1997
Prenatal molecular diagnosis for Apert syndrome.
Osada H et al.
International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 1996
Exclusive paternal origin of new mutations in Apert syndrome.
Moloney DM et al.
Nature Genetics, 1996
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
Wilkie AO et al.
Nature Genetics, 1995
Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient.
Barik M et al.
Journal of Pediatric Neurosciences, 0