Associated Papers
Proteome-Wide Analysis of Functional Phosphosites in the FGFR Family of Proteins: Insights from Large-Scale Phosphoproteomic Analysis.
Palollathil A et al.
Proteomes, 2026
Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.
Justus JO
Clinical Medicine Insights. Case Reports, 2025
An early prenatal diagnosis of type III Pfeiffer syndrome: a case description.
Tie HX et al.
Quantitative Imaging in Medicine and Surgery, 2024
A Phase I Study of KIN-3248, an Irreversible Small-molecule Pan-FGFR Inhibitor, in Patients with Advanced FGFR2/3-driven Solid Tumors.
Garmezy B et al.
Cancer Research Communications, 2024
Landscape of Genetic Mutations in Appendiceal Cancers.
Constantin M et al.
Cancers, 2023
Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.
Ea C et al.
Bone Reports, 2022
Influence of Nonsyndromic Bicoronal Synostosis and Syndromic Influences on Orbit and Periorbital Malformation.
Lu X et al.
Plastic and Reconstructive Surgery, 2022
The clinical manifestations, molecular mechanisms and treatment of craniosynostosis.
Stanton E et al.
Disease Models & Mechanisms, 2022
Fibroblast growth factor receptors in cancer: genetic alterations, diagnostics, therapeutic targets and mechanisms of resistance.
Krook MA et al.
British Journal of Cancer, 2021
Age-Dependent De Novo Mutations During Spermatogenesis and Their Consequences.
Cioppi F et al.
Advances in Experimental Medicine and Biology, 2019
Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes.
Apostolopoulou D et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2018
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
Azoury SC et al.
International Journal of Biological Sciences, 2017
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
Hibberd CE et al.
American Journal of Medical Genetics. Part A, 2016
Therapeutics Targeting FGF Signaling Network in Human Diseases.
Katoh M
Trends in Pharmacological Sciences, 2016
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
Fernandes MB et al.
American Journal of Medical Genetics. Part A, 2016
FGFR3 induces degradation of BMP type I receptor to regulate skeletal development.
Qi H et al.
Biochimica Et Biophysica Acta, 2014
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.
Giannoulatou E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.
Shinde DN et al.
Human Molecular Genetics, 2013
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.
Agochukwu NB et al.
American Journal of Medical Genetics. Part A, 2013
Phenotype profile of a genetic mouse model for Muenke syndrome.
Nah HD et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2012
A comprehensive review of the genetic basis of cleft lip and palate.
Kohli SS et al.
Journal of Oral and Maxillofacial Pathology : Jomfp, 2012
High-throughput mutation profiling of primary and metastatic endometrial cancers identifies KRAS, FGFR2 and PIK3CA to be frequently mutated.
Krakstad C et al.
Plos One, 2012
The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses.
Laurita J et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2011
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Wilkie AO et al.
Pediatrics, 2010
Brain phenotypes in two FGFR2 mouse models for Apert syndrome.
Aldridge K et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2010
Understanding what determines the frequency and pattern of human germline mutations.
Arnheim N et al.
Nature Reviews. Genetics, 2009
A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations.
Choi SK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
Genetic alterations in the tyrosine kinase transcriptome of human cancer cell lines.
Ruhe JE et al.
Cancer Research, 2007
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
McGillivray G et al.
Journal of Medical Genetics, 2005
Roles of FGF receptors in mammalian development and congenital diseases.
Coumoul X et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2003
Are children of older fathers at risk for genetic disorders?
Jung A et al.
Andrologia, 2003
Molecular and cellular bases of syndromic craniosynostoses.
Bonaventure J et al.
Expert Reviews in Molecular Medicine, 2003
From genotype to phenotype: the differential expression of FGF, FGFR, and TGFbeta genes characterizes human cranioskeletal development and reflects clinical presentation in FGFR syndromes.
Britto JA et al.
Plastic and Reconstructive Surgery, 2001
Progress toward understanding craniofacial malformations.
Nuckolls GH et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 1999
Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain.
Robertson SC et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
[Frequent missense mutations of fibroblast growth factor receptor (FGFR) gene families in craniofacial syndromes in Japanese patients].
Ishigaki M et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 1996
Recent advances in the genetics of disorders of calcium homeostasis.
Root AW
Advances in Pediatrics, 1996