Associated Papers
Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome.
Kantaputra PN et al.
Genes, 2022
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.
Chen J et al.
Frontiers in Genetics, 2022
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
Fernandes MB et al.
American Journal of Medical Genetics. Part A, 2016
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Paumard-Hernández B et al.
European Journal of Human Genetics : Ejhg, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
Roscioli T et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Wilkie AO et al.
Pediatrics, 2010
Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg).
Andreou A et al.
American Journal of Medical Genetics. Part A, 2006
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
Lajeunie E et al.
European Journal of Human Genetics : Ejhg, 2006
Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link.
Hansen RM et al.
The Journal of Pathology, 2005
Cellular signaling by fibroblast growth factor receptors.
Eswarakumar VP et al.
Cytokine & Growth Factor Reviews, 2005
Molecular dimensions of gastrointestinal tumors: some thoughts for digestion.
Cohen MM
American Journal of Medical Genetics. Part A, 2003
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Kan SH et al.
American Journal of Human Genetics, 2002
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
Kress W et al.
Cytogenetics and Cell Genetics, 2000