Disease: Craniofacial and skeletal defects
- <em>Sf3b4</em> mutation in <em>Xenopus tropicalis</em> causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest development
- 3D printed O<sub>2</sub>-generating scaffolds enhance osteoprogenitor- and type H vessel recruitment during bone healing
- A Feasible Role of Neuropilin Signaling in Pharyngeal Pouch Formation in Zebrafish
- A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies
- A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review
- A novel small deletion in <em>CWC27</em> gene associated with <em>CWC27</em>-related spliceosomeopathy
- A Potential Role of <em>fgf4</em>, <em>fgf24</em>, and <em>fgf17</em> in Pharyngeal Pouch Formation in Zebrafish
- A Rare Case of Shprintzen-Goldberg craniosynostosis syndrome with Hirschsprung disorder: Dental characteristics and its Clinical Management
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis
- Acute Primary Small Bowel Volvulus in a Male With Loeys-Dietz Syndrome
- Advancements in facial implantology: a review of hydroxyapatite applications and outcomes
- Anatomical features of sella turcica with comprehensive literature review
- Anesthetic dilemmas in an achondroplastic patient undergoing elective cesarean section
- Ash1 l loss-of-function results in structural birth defects and altered cortical development
- Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond-Blackfan Anemia May Be Overlooked
- Balancing beauty and science: a review of facial implant materials in craniofacial surgery
- Biallelic truncating variants in <em>VGLL2</em> cause syngnathia in humans
- BMP2 is a potential causative gene for isolated dextrocardia situs solitus
- Bone health in SATB2-associated syndrome: Results from a large prospective cohort and recommendations for surveillance
- Bone Tissue Engineering (BTE) of the Craniofacial Skeleton, Part I: Evolution and Optimization of 3D-Printed Scaffolds for Repair of Defects
- Bone Tissue Engineering (BTE) of the Craniofacial Skeleton, Part II: Translational Potential of 3D-Printed Scaffolds for Defect Repair
- Cardiovascular anomalies in patients with Tessier syndrome: a systematic review
- Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review
- Challenges of a two-phase orthodontic treatment of a mandibular lateral incisor-canine transposition and a maxillary palatally displaced canine: A case report
- Characteristics of Craniofacial Morphology and Occlusion in Shwachman-Diamond Syndrome: A Case Report of a Japanese Sibling Pair
- CHD7 regulates craniofacial cartilage development via controlling HTR2B expression
- Cis-regulatory control of mammalian Trps1 gene expression
- Compromised femoral and lumbovertebral bone in the Dp(16)1Yey Down syndrome mouse model
- Congenital cranio-facial abnormalities in paediatric population: a systematic review on temporomandibular disorders
- Cranial suture lineage and contributions to repair of the mouse skull
- Craniofacial bone anomalies related to cholesterol synthesis defects
- CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
- Delayed diagnosis of Loeys-Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation
- Double aneuploidy in a 2-month-old male with Edward syndrome and Klinefelter syndrome: a case report
- Embryonic cranial cartilage defects in the Fgfr3<sup>Y367C</sup> <sup>/+</sup> mouse model of achondroplasia
- ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia
- Evaluation of Malocclusion Types in Adult Patients with Nasal Septal Defects - An Observational Cross-Sectional Analysis
- Exploring Progression and Differences in Facial Asymmetry for Hemifacial Microsomia and Isolated Microtia: Insights from Extensive 3D Analysis
- Extraction of genomic DNA for sequencing from snail <em>Helix lucorum</em>
- Factors influencing root resorption in retained mandibular second deciduous molars with congenital absence of second premolars: a cross-sectional study
- Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant
- First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant
- Floating-Harbor Syndrome: A Systematic Literature Review and Case Report
- Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review
- Human split hand/foot variants are not as functional as wildtype human PRDM1 in the rescue of craniofacial defects
- Identification of an adverse outcome pathway (AOP) for chemical-induced craniofacial anomalies using the transgenic zebrafish model
- Identification of conserved skeletal enhancers associated with craniosynostosis risk genes
- Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth
- In vivo Mapping of the Mouse Galnt3-specific O-Glycoproteome
- Insights into Craniofacial Development and Anomalies: Exploring Fgf Signaling in Zebrafish Models
- Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search
- Knockdown of best1 Gene in Zebrafish Caused Abnormal Neuronal and Skeletal Development -A Subtype of Craniovertebral Junction Malformation
- Long-Term Follow-Up of Apert Syndrome Following Mid-Face Advancement: More Than 3 Decades Later
- Loss of Neogenin alters branchial arch development and leads to craniofacial skeletal defects
- Loss of the glycosyltransferase Galnt11 affects vitamin D homeostasis and bone composition
- Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia
- Median mandibular cleft in SAMS syndrome - A rare case report
- Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives
- Midface hypoplasia in syndromic craniosynostosis: predicting craniofacial growth via a novel regression model from anatomical morphometric analysis
- Mitigation of BMP-induced Inflammation in Craniofacial Bone Regeneration and Improvement of Bone Parameters by Dietary Hesperidin
- Mitigation of BMP-induced inflammation in craniofacial bone regeneration and improvement of bone parameters by dietary hesperidin
- Morphological integration in inferior alveolar canal and mandibular shapes
- Motor control on gait performance among individuals with lower crossed syndrome: A scoping review
- Murine IRF8 Mutation Offers New Insight into Osteoclast and Root Resorption
- Neural EGFL-like 1, a craniosynostosis-related osteochondrogenic molecule, strikingly associates with neurodevelopmental pathologies
- Ocular findings in Jansen metaphyseal chondrodysplasia
- Ocular manifestations in a cohort of 43 patients with KBG syndrome
- Optineurin regulates osteoblast function in an age-dependent fashion in a mouse model of Paget's disease of bone
- Outcome of patients with complete cleft lip and alveolus: 20-year follow-up
- Overexpression of <em>Fgf18</em> in cranial neural crest cells recapitulates Pierre Robin sequence in mice
- Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature
- PDGFRα signaling regulates Srsf3 transcript binding to affect PI3K signaling and endosomal trafficking
- Predicting Optimal Patient-Specific Postoperative Facial Landmarks for Patients with Craniomaxillofacial Deformities
- Predicting optimal patient-specific postoperative facial landmarks for patients with craniomaxillofacial deformities
- Prenatal diagnosis of cleidocranial dysplasia: Case report on two cases with a negative family history
- Prenatal identification of a pathogenic maternal <em>FGFR1</em> variant in two consecutive pregnancies with fetal forebrain malformations
- Purine Biosynthesis Pathways Are Required for Myogenesis in <em>Xenopus laevis</em>
- Pyknodysostosis: A case report of an 8-year-old male with a rare genetic disorder
- Revolutionizing bone regeneration: advanced biomaterials for healing compromised bone defects
- SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder
- Sf3b4 mutation in Xenopus tropicalis causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest development
- Skeletal abnormalities caused by a Connexin43(R239Q) mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia
- Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia
- Skeletal and Non-skeletal Phenotypes in Children with Osteogenesis Imperfecta
- Skeletal Dysplasia: A Case Report
- Skeletal Morphogenesis and Anomalies in Gilthead Seabream: A Comprehensive Review
- Special clinical entity with 15q26 deletion: a novel case report
- Stability between single and segmental maxillary osteotomies in bimaxillary surgery for cleft-associated class III deformity: a CBCT study
- Teratogenic effects of voriconazole (anti-fungal drug) on Swiss albino mice
- TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway
- The A2ml1-Knockout mouse as an animal model for non-syndromic otitis media
- The influence of orthopedic rapid maxillary expansion on the deviation of the nasal septum
- The Potential Role of Ionic Liquid as a Multifunctional Dental Biomaterial
- The relationship between third molar agenesis and craniofacial morphology: a systematic review and meta-analysis
- Transcription factor Meis1b regulates craniofacial morphogenesis in zebrafish
- Transforming growth factor beta signaling and craniofacial development: modeling human diseases in zebrafish
- Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review
- Visualization Mapping and Current Trends of Facial Contouring Procedures: A Bibliometric Analysis Based on Web of Science
- Whole exome sequencing enables the correct diagnosis of Frank-Ter Haar syndrome in a Saudi family