Disease: Muenke Syndrome
- A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature
- A novel therapeutic hypothesis for craniosynostosis syndromes: Clover to clever
- A patient with Muenke syndrome manifesting migrating neonatal seizures
- A Pilot Study of Identification Genetic Background of Craniosynostosis Cases
- A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners
- Additional phenotypic features of Muenke syndrome in 2 Dutch families
- Alterations in Sphenoid Anatomy in Craniosynostosis: Implications for Fronto-Orbital Advancement
- Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1
- Assessing the midface in Muenke syndrome: A cephalometric analysis and review of the literature
- Assessment of white matter microstructural integrity in children with syndromic craniosynostosis: a diffusion-tensor imaging study
- Audiological profile of children and young adults with syndromic and complex craniosynostosis
- Automated three-dimensional analysis of facial asymmetry in patients with syndromic coronal synostosis: A retrospective study
- Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
- Clinical and genetic characteristics of craniosynostosis in Hungary
- Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis
- Convolutional mesh autoencoders for the 3-dimensional identification of FGFR-related craniosynostosis
- Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
- Craniofacial growth in patients with FGFR3Pro250Arg mutation after fronto-orbital advancement in infancy
- Craniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis
- Craniosynostosis and ENT
- Craniosynostosis: Neonatal Perspectives
- Dental Age, Agenesis, and Morphology in Patients With Operated Single-Suture Craniosynostoses
- Deviating dental arch morphology in mild coronal craniosynostosis syndromes
- Differential closure of the spheno-occipital synchondrosis in syndromic craniosynostosis
- Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study
- Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis
- Erratum to: A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults who Have Muenke Syndrome and their Partners
- Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis
- Evolution of Cranioorbital Shape in Nonsyndromic, Muenke, and Saethre-Chotzen Bilateral Coronal Synostosis: A Case-Control Study of 2-Year Outcomes
- Executive Function and Adaptive Behavior in Muenke Syndrome
- Exome sequencing for structurally normal fetuses-yields and ethical issues
- Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis
- Facial Asymmetry in Nonsyndromic and Muenke Syndrome-Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans
- Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation
- Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the <em>TWIST1</em> and <em>EFNB1</em> Genes
- Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates
- Genetic Syndromes Associated with Craniosynostosis
- Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension
- Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients
- Growth charts in <em>FGFR2</em>- and <em>FGFR3</em>-related faciocraniosynostoses
- Hajdu-Cheney syndrome with atypical cardiovascular abnormalities
- Health-related problems and quality of life in patients with syndromic and complex craniosynostosis
- Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms
- Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings
- Human Genetics of Ventricular Septal Defect
- Identifying environmental risk factors and gene-environment interactions in holoprosencephaly
- Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations
- Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis
- Intracranial hypertension and cortical thickness in syndromic craniosynostosis
- Intracranial Volume Measured and Correlated to Cephalic Index in Syndromic and Nonsyndromic Anterior Brachycephaly
- Isolated frontosphenoidal craniosynostosis: An argument for genetic testing
- Lessons learned in posterior cranial vault distraction
- Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
- Management of ventriculomegaly in pediatric patients with syndromic craniosynostosis: a single center experience
- Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr
- Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations
- Molecular Mechanisms Involved in Craniosynostosis
- Molecular Scalpels: The Future of Pediatric Craniofacial Surgery?
- Muencke syndrome with cleft lip and palate
- Muenke syndrome
- Muenke syndrome associated with multiple osteochondromas
- Muenke syndrome mutation, FgfR3P244R, causes TMJ defects
- Muenke syndrome: An international multicenter natural history study
- Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol
- Muenke syndrome: Medical and surgical comorbidities and long-term management
- Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses
- Mystery of the Muenke midface: spheno-occipital synchondrosis fusion and craniofacial skeletal patterns
- Neurological deficits are present in syndromic craniosynostosis patients with and without tonsillar herniation
- Optic Nerve Atrophy in Syndromic Craniosynostosis
- Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis)
- Phenotype profile of a genetic mouse model for Muenke syndrome
- Phenotypic variability in Muenke syndrome-observations from five Danish families
- Phenotypic variability in Muenke syndrome-observations from five Danish families: Erratum
- Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation
- PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly
- Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome
- Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study
- Prevalence of craniosynostosis in Finland, 1987-2010: A population-based study
- Prevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis
- Prevention and management of hearing loss in syndromic craniosynostosis: A case series
- Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report
- Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes
- Rubinstein-Taybi syndrome in diverse populations
- Sex differences in neutrophil biology modulate response to type I interferons and immunometabolism
- Squamosal suture craniosynostosis in Muenke syndrome
- Syndromic Craniosynostosis
- Syndromic Craniosynostosis: A Comprehensive Review
- Syndromic Craniosynostosis: Cranial Vault Expansion in Infancy
- Syndromic Craniosynostosis: Unique Management Considerations
- Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism
- Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?
- The human inactive X chromosome modulates expression of the active X chromosome
- The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses
- The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases
- The role of the posterior fossa in developing Chiari I malformation in children with craniosynostosis syndromes
- Tracheal Cartilaginous Sleeve in Syndromic Craniosynostosis: An Underrecognized Source of Significant Morbidity and Mortality
- Turner syndrome in diverse populations
- Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes
- Upper Airway Length is Predictive of Obstructive Sleep Apnea in Syndromic Craniosynostosis
- Upward transtentorial herniation following frontoorbital advancement for syndromic craniosynostosis: case report