• A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis
• 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 Novel Splicing Variant of <em>COL2A1</em> in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions
• A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691--&gt;Arg) in the type II collagen trimer
• Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity
• Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation
• Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the <em>COL2A1</em> Gene
• Achondrogenesis type I and II and hypochondrogenesis (author's transl)
• Achondrogenesis type II-hypochondrogenesis: radiological features.Case report
• Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases
• All-trans retinoic acid inhibited chondrogenesis of mouse embryonic palate mesenchymal cells by down-regulation of TGF-beta/Smad signaling
• An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis
• An amino acid substitution (Gly853--&gt;Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis
• An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis
• An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita
• Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies
• Cardiac malformation in two infants with hypochondrogenesis
• Case report 122: lethal short-limbed dwarfism: achondrogenesis type 2 (Fraccaro-Langer-Saldino)
• Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis
• Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling
• Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update
• Contribution to hypochondrogenesis
• Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives
• Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type
• Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
• Fatal congenital spondylo-epiphysial dysplasia or hypochondrogenesis
• Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing
• Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism
• Hypochondrogenesis
• Hypochondrogenesis
• Hypochondrogenesis; an additional case
• Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computerized tomography
• Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis
• Localization of the expression of type I, II and III collagen genes in human normal and hypochondrogenesis cartilage canals
• Modulation of limb bud chondrogenesis by retinoic acid and retinoic acid receptors
• Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes
• Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies
• New form of bone dysplasia with multiple fractures associated with monosomy X
• Non-collagenous protein screening in the human chondrodysplasias: link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin
• Nonimmunologic hydrops fetalis. A study of ten cases
• Novel COL2A1 variant in a newborn with hypochondrogenesis
• Osteochondrodysplasia determined genetically by a collagen type II gene mutation
• Pathogenic mechanisms in osteochondrodysplasias
• Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester
• Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report
• Prenatal sonographic diagnosis of skeletal dysplasias
• Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis
• Radiologic Features of Type II and Type XI Collagenopathies
• Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay
• Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism
• Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
• Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen
• Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
• Somatic mosaicism and the phenotypic expression of COL2A1 mutations
• Specific ultrasonographic features of perinatal lethal hypophosphatasia
• Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1
• Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism
• Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene
• Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation
• Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships
• The type II collagenopathies: a spectrum of chondrodysplasias
• Three-dimensional ultrasonographic presentation of micrognathia
• Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen
• Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies
• Type II Collagen Disorders Overview
• Type II collagen pro-alpha-chains containing a Gly574Ser mutation are not incorporated into the cartilage matrix of transgenic mice
• Ultrastructural alterations and retention of the C-propeptide of type II collagen in human chondrocytes exposed in vitro to brefeldin A
• Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias
• Visceral manifestations of hypochondrogenesis
• Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis