Associated Papers
The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner's deformity in a Chinese Han pedigree.
Ma M et al.
Bmc Medical Genomics, 2026
Novel variant in FGFR2 in a family with anterior segment anomalies.
Chattannavar G et al.
Ophthalmic Genetics, 2026
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
Genetic Variants in Recurrent Euploid Pregnancy Loss.
Aminbeidokhti M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model-Based Prediction.
Ziegler M et al.
Jco Precision Oncology, 2025
Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2024
FGF signaling in cranial suture development and related diseases.
Zhao X et al.
Frontiers in Cell and Developmental Biology, 2023
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Bourgon N et al.
European Journal of Human Genetics : Ejhg, 2022
Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages.
Katsuragi SY et al.
The American Journal of Case Reports, 2021
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Lefebvre M et al.
Journal of Medical Genetics, 2021
The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype.
He M et al.
Frontiers in Genetics, 2021
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden C et al.
Prenatal Diagnosis, 2020
The paradox of cancer genes in non-malignant conditions: implications for precision medicine.
Adashek JJ et al.
Genome Medicine, 2020
Genetic Causes of Craniosynostosis: An Update.
Goos JAC et al.
Molecular Syndromology, 2019
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Maher GJ et al.
Genome Research, 2018
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
Kutkowska-Kaźmierczak A et al.
Journal of Applied Genetics, 2018
Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis.
Saliba S et al.
Prenatal Diagnosis, 2018
A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.
Machado RA et al.
American Journal of Medical Genetics. Part A, 2017
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.
Giancotti A et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2017
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2017
Multidisciplinary Treatment of Antley-Bixler Syndrome.
Solem RC et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2017
Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.
Wenger TL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
Ohishi A et al.
American Journal of Medical Genetics. Part A, 2017
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
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Barnett CP et al.
Human Mutation, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Altered FGF signalling in congenital craniofacial and skeletal disorders.
Moosa S et al.
Seminars in Cell & Developmental Biology, 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
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur BG et al.
Pediatric Neurology, 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
Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach.
C GP et al.
Applied Biochemistry and Biotechnology, 2013
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
Chokdeemboon C et al.
The Journal of Craniofacial Surgery, 2013
Involvement of the WNT and FGF signaling pathways in non-isolated anorectal malformations: sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene.
Draaken M et al.
International Journal of Molecular Medicine, 2012
Central nervous system malformations and deformations in FGFR2-related craniosynostosis.
Khonsari RH et al.
American Journal of Medical Genetics. Part A, 2012
Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.
Koga H et al.
American Journal of Medical Genetics. Part A, 2012
Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails.
Wilkinson CC et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2012
A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings.
Barry GP et al.
Ophthalmic Genetics, 2010
Spectrum of Antley-Bixler syndrome.
McGlaughlin KL et al.
The Journal of Craniofacial Surgery, 2010
Fibroblast growth factor receptor 2 and its role in caudal appendage and craniosynostosis.
Sureka D et al.
The Journal of Craniofacial Surgery, 2010
FGFR2 abnormalities underlie a spectrum of bone, skin, and cancer pathologies.
Katoh M
The Journal of Investigative Dermatology, 2009
Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.
Gartside MG et al.
Molecular Cancer Research : Mcr, 2009
Sacral appendage in a child with an FGFR2 mutation: a report and review.
Shanske AL et al.
American Journal of Medical Genetics. Part A, 2008
The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis.
Honnebier MB et al.
Plastic and Reconstructive Surgery, 2008
FGF signaling: its role in bone development and human skeleton diseases.
Su N et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008