Disease: Spondyloepiphyseal dysplasia- congenita
- <em>COL2A1</em> Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita
- A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing
- A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma
- A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita
- A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation
- A novel <em>de novo</em> mutation in <em>COL2A1</em> leading to spondyloepiphyseal dysplasia congenita in a Chinese family
- A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred
- A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family
- A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family
- A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family
- A novel mutation in the C-propeptide of <em>COL2A1</em> causes atypical spondyloepiphyseal dysplasia congenita
- A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita
- A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita
- A Rare Form of Corneal Opacity Associated with Spondyloepiphyseal Dysplasia Congenita
- A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies
- A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
- Airway stenting in a child with spondyloepiphyseal dysplasia congenita: 13-Year survival
- An adolescent case of sellar osteochondromyxoma in the setting of spondyloepiphyseal dysplasia
- An original preoperative orthopaedic management of a complex spinal deformity in a 16-year-old patient with spondyloepiphyseal dysplasia congenita
- Analysis of <em>CDKN1C</em> in fetal growth restriction and pregnancy loss
- Arthrogryposis multiplex congenita in a child with congenital fractures: a case report
- Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
- Awake fibreoptic intubation for caesarean section in a patient with spondyloepiphyseal dysplasia congenita
- Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
- Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies
- Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I
- Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with <em>COL2A1</em>-related Dysplasia
- Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family
- Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient
- COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita
- Comprehensive analysis of syndromic hearing loss patients in Japan
- Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling
- Convolutional Neural Networks for Recognition of Lymphoblast Cell Images
- Cystic biliary atresia or atretic choledochal cyst: A continuum in infantile obstructive cholangiopathy
- Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1
- DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
- Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea
- Evidence for a de novo, dominant germ-line mutation causative of osteogenesis imperfecta in two Red Angus calves
- Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias
- Feeding difficulty in an infant: an unusual cause
- Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing
- Genetic and Molecular Insights Into Genotype-Phenotype Relationships in Osteopathia Striata With Cranial Sclerosis (OSCS) Through the Analysis of Novel Mouse Wtx Mutant Alleles
- Herculean Boy With Facial Myokymia
- How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies
- Identification of a novel COL2A1 variant in a pedigree affected with spondyloepiphyseal dysplasia congenita
- Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita
- Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita
- Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita
- Identification of an Autosomal Dominant Mutation in the <em>COL2A1</em> Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family
- Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family
- Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival
- IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)
- Loss of DDRGK1 impairs IRE1α UFMylation in spondyloepiphyseal dysplasia
- Management of Craniocervical Instability in Spondyloepiphyseal Dysplasia Congenita: Assessment of Literature and Presentation of Two Cases
- Morphologic and functional evaluation of duplicated renal collecting systems with MR urography: A descriptive analysis
- MRI features and differential diagnoses of congenital vaginal atresia
- Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia
- Multiscale Road Extraction in Remote Sensing Images
- Muscle-Bone Interactions in Pediatric Bone Diseases
- Namaqualand hip dysplasia in South Africa: The molecular determinant elucidated
- Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature
- New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies
- Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families
- Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita
- Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome
- Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita
- Osteoarthritis-like changes in the heterozygous sedc mouse associated with the HtrA1-Ddr2-Mmp-13 degradative pathway: a new model of osteoarthritis
- Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu
- Psychosocial impacts of caring for a child with a genetic disorder in Accra, Ghana
- Radiologic Features of Type II and Type XI Collagenopathies
- Rare case of dual diagnosis in consanguineous family: a case report
- Results of surgical treatment of coxa vara in children: valgus osteotomy with angle blade plate fixation
- Review of cervical spine anomalies in genetic syndromes
- Schwartz-Jampel Syndrome Mimicking Myotonia Congenita
- Significant clinical benefits of molecular studies in the skeletal dysplasias
- Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis
- Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis
- Sleep-disordered breathing and its management in children with rare skeletal dysplasias
- SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children
- Somatic mosaicism and the phenotypic expression of COL2A1 mutations
- Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
- Spinal Cord Injury After Extremity Surgery in Children With Thoracic Kyphosis
- Spondyloepihyseal Dysplasia Congenita
- Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1
- Spondyloepiphyseal Dysplasia Congenita in a painting of Vicente Lopez y Portana (1825)
- Spondyloepiphyseal Dysplasia Congenita: A Rare Cause of Respiratory Distress
- Spondyloepiphyseal dysplasia congenita: Use of complementary 3D reconstruction imaging for preoperative planning
- Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy
- Structural variations in articular cartilage matrix are associated with early-onset osteoarthritis in the spondyloepiphyseal dysplasia congenita (sedc) mouse
- Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita: A case report
- The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
- The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study
- Thick Clot in the Inferior Limiting Sulcus on Computed Tomography Image as an Indicator of Sylvian Subpial Hematoma in Patients with Aneurysmal Subarachnoid Hemorrhage
- Total Hip Arthroplasty Reduces Pain and Improves Function in Patients With Spondyloepiphyseal Dysplasia: A Long-Term Outcome Study of 50 Cases
- Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate
- Tyrosine-sulfated dermatopontin shares multiple binding sites and recognition determinants on triple-helical collagens with proteins implicated in cell adhesion and collagen folding, fibrillogenesis, cross-linking, and degradation
- Upper Cervical Fusion in Children With Spondyloepiphyseal Dysplasia Congenita
- Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results
- Visual and auditory perceptual strength norms for 3,596 French nouns and their relationship with other psycholinguistic variables
- Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita