Associated Papers
Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
Park RK et al.
International Journal of Pediatric Otorhinolaryngology, 2026
Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction.
Luo L et al.
Diagnostics (basel, Switzerland), 2026
Novel variant in FGFR2 in a family with anterior segment anomalies.
Chattannavar G et al.
Ophthalmic Genetics, 2026
Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations.
Ogawa JT et al.
American Journal of Medical Genetics. Part A, 2025
An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome.
Na B et al.
Pediatric Hematology and Oncology, 2023
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.
Lo Vecchio F et al.
Genes, 2022
Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare-Stevenson Syndrome.
Ferreira LC et al.
Frontiers in Genetics, 2020
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
Lin M et al.
Molecular Genetics & Genomic Medicine, 2019
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J et al.
Nature Medicine, 2019
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
Kutkowska-Kaźmierczak A et al.
Journal of Applied Genetics, 2018
FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants.
Apra C et al.
Clinical Genetics, 2016
Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.
Ye X et al.
Plastic and Reconstructive Surgery, 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
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.
Fenwick AL et al.
Bmc Medical Genetics, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 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
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 2008
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO 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
Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.
McCann E et al.
American Journal of Medical Genetics. Part A, 2005
Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).
Mulliken JB et al.
Plastic and Reconstructive Surgery, 2004
Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.
Cohen MM
American Journal of Medical Genetics, 2002
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
Current Understanding of Crouzon Syndrome Pathophysiology and New Therapeutic Approaches.
Tiberio F et al.
The Journal of Craniofacial Surgery, 0