• A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses
• A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes
• A mutation in <em>SLC20A2</em> (c.C1849T) promotes proliferation while inhibiting hypertrophic differentiation in ATDC5 chondrocytes
• A New Classification System for Forearm Deformities Caused by Hereditary Multiple Osteochondromas
• A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses
• A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma
• A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep
• A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses
• A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012
• Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature
• An analysis of osteoporosis in patients with hereditary multiple exostoses
• An Evaluation of Forearm Deformities in Hereditary Multiple Exostoses: Factors Associated With Radial Head Dislocation and Comprehensive Classification
• An extended outbreak of congenital chondrodysplasia in calves in South East Australia
• An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy
• Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion
• Atypical teratoid/rhabdoid tumor with hereditary multiple exostoses in an 18-year-old male: A case report
• Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume
• Cartilage-specific overexpression of ERRγ results in Chondrodysplasia and reduced chondrocyte proliferation
• Clinicopathologic features of osteochondroma with malignant transformation
• Cytokines in bone diseases. Genetic defects of PTH/PTHrP receptor in chondrodysplasia
• Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients
• Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes
• Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice
• Distinct osmoregulatory responses to sodium loading in patients with altered glycosaminoglycan structure: a randomized cross-over trial
• Distraction osteogenesis at the proximal third of the ulna for the treatment of Masada type I/IIb deformities in children with hereditary multiple exostoses: a retrospective review of twenty cases
• Effect of osteochondroma location on forearm deformity in patients with multiple hereditary osteochondromatosis
• Embryonic fibroblasts with a gene trap mutation in Ext1 produce short heparan sulfate chains
• Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity
• Evidence of genetic underexpression in chorionic villi samples of euploid fetuses with increased nuchal translucency at 10-11 weeks' gestation
• Exostoses, enchondromatosis and metachondromatosis; diagnosis and management
• Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant
• Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
• EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses
• EXTL2, a member of the EXT family of tumor suppressors, controls glycosaminoglycan biosynthesis in a xylose kinase-dependent manner
• Factors influencing postoperative bleeding after dental extraction in older adult patients receiving anticoagulation therapy
• Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation
• Forearm Hereditary Multiple Exostosis: A Retrospective Case Series Study
• Functional Requirements for Heparan Sulfate Biosynthesis in Morphogenesis and Nervous System Development in C. elegans
• Gradual ulnar lengthening by an Ilizarov ring fixator for correction of Masada IIb forearm deformity without tumor excision in hereditary multiple exostosis: preliminary results
• Gradual ulnar lengthening in Masada type I/IIb deformity in patients with hereditary multiple osteochondromas: a retrospective study with a mean follow-up of 4.2 years
• Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family
• Heparan sulfate antagonism alters bone morphogenetic protein signaling and receptor dynamics, suggesting a mechanism in hereditary multiple exostoses
• Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses
• Herpes simplex virus: discovering the link between heparan sulphate and hereditary bone tumours
• Hinge positioning method of Ilizarov apparatus in correcting radial head luxation caused by multiple hereditary exostoses
• Hip-Spine Syndrome: Is There an Association Between Markers for Cam Deformity and Osteoarthritis of the Lumbar Spine?
• HSPG-deficient zebrafish uncovers dental aspect of multiple osteochondromas
• Identification of mutation in a candidate gene for hereditary multiple exostoses type II
• Identification of risk factors affecting bone formation in gradual ulnar lengthening in children with hereditary multiple exostoses: A retrospective study
• Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption
• Intraosseous atypical chondroid tumor or chondrosarcoma grade 1 in patients with multiple osteochondromas
• Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!
• Langer-Giedion syndrome with 8q23.1-q24.12 deletion diagnosed by comparative genomic hybridization
• Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function
• Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome
• Lower limb deformities and limb length discrepancies in hereditary multiple exostoses
• Management of forearm deformities with ulnar shortening more than 15 mm caused by hereditary multiple osteochondromas
• Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred
• Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without <em>TRPS1</em> Deletion
• Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion
• Modified ulnar lengthening for correction of the Masada type 2 forearm deformity in hereditary multiple exostosis
• Morphological classification for prediction of malignant transformation in multiple exostoses
• Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses
• Mutation in the heparan sulfate biosynthesis enzyme EXT1 influences growth factor signaling and fibroblast interactions with the extracellular matrix
• Mutational Analysis of <em>EXT1</em>in a Chinese Family Affected by Hereditary Multiple Osteochondroma
• Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma
• Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants
• Natural History and Characteristics of Hand Exostoses in Multiple Hereditary Exostoses
• Neutral sphingomyelinase (SMPD3) deficiency causes a novel form of chondrodysplasia and dwarfism that is rescued by Col2A1-driven smpd3 transgene expression
• Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report
• Not All Osteophytes Are Located on the Right Side of the Vertebrae in Diffuse Idiopathic Skeletal Hyperostosis: A Quantitative Analysis in Relation to the Position of Aorta
• Older age and multi-joint external fixator are two risk factors of complications in ulnar lengthening in children with hereditary multiple exostosis
• Osteochondroma of acromioclavicular joint
• Parathyroid hormone 1 receptor: insights into structure and function
• Partial rescue of PTH/PTHrP receptor knockout mice by targeted expression of the Jansen transgene
• Recent studies on the biological action of parathyroid hormone (PTH)-related peptide (PTHrP) and PTH/PTHrP receptor in cartilage and bone
• Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes
• Reconstruction of forearm deformities in multiple cartilaginous exostoses
• Reduced chondrocyte proliferation and chondrodysplasia in mice lacking the integrin-linked kinase in chondrocytes
• Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher
• Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant
• SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes
• Signaling systems affecting the severity of multiple osteochondromas
• Single-Bone Forearm as a Salvage Procedure in Recalcitrant Pediatric Forearm Pathologies
• Tackling the number-one killer in my community
• The cyclin D1 and cyclin A genes are targets of activated PTH/PTHrP receptors in Jansen's metaphyseal chondrodysplasia
• The evolving therapeutic landscape of genetic skeletal disorders
• The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins
• The One-Bone Forearm in Children: Surgical Technique and a Retrospective Review of Outcomes
• The short-lived exostosis induced surgically versus the lasting genetic hereditary multiple exostoses
• The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis
• Total hip arthroplasty in hereditary multiple exostosis patients: literature review and evaluation of 10 cases
• Traumatic bone cyst of the mandible in Langer-Giedion syndrome: a case report
• Trichorhinophalangeal syndrome type 1: A case report with literature review
• Ulnar Distraction Osteogenesis in the Treatment of Forearm Deformities in Children With Multiple Hereditary Exostoses
• Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases
• Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population
• Whole-exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family
• Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family
• Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of spondyloepiphyseal dysplasia