• 8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I
• A collaborative approach to the diagnosis of a lethal short limb skeletal dysplasia
• A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses
• A family with limb girdle muscular dystrophy type 1B and multiple 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 Novel Intronic Splicing Mutation in the <em>EXT2</em> Gene of a Chinese Family with Multiple Osteochondroma
• A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma
• A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia
• A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma
• A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses
• Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2
• 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
• Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion
• Biologic and clinical significance of cytogenetic and molecular cytogenetic abnormalities in benign and malignant cartilaginous lesions
• Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume
• Clear cell chondrosarcoma in association with niemann-pick disease
• Clinical and Functional Outcomes of Ulnar Lengthening in the Treatment of Masada Type I Forearm Deformities in Hereditary Multiple Osteochondromas
• Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13)
• Clinicopathologic features of osteochondroma with malignant transformation
• Demonstration of a novel gene DEXT3 of Drosophila melanogaster as the essential N-acetylglucosamine transferase in the heparan sulfate biosynthesis: chain initiation and elongation
• Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes
• Disease picture of dysplasia epiphysealis hemimelica
• Disrupted expression of matrix genes in the growth plate of the mouse cartilage matrix deficiency (cmd) mutant
• Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice
• 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
• 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
• EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas
• 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
• Filamin-interacting proteins, Cfm1 and Cfm2, are essential for the formation of cartilaginous skeletal elements
• 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
• Hinge positioning method of Ilizarov apparatus in correcting radial head luxation caused by multiple hereditary exostoses
• HSPG-deficient zebrafish uncovers dental aspect of multiple osteochondromas
• Identification of mutation in a candidate gene for hereditary multiple exostoses type II
• Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer
• 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!
• Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function
• Loss of β-catenin induces multifocal periosteal chondroma-like masses in mice
• 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
• Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response
• Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without <em>TRPS1</em> Deletion
• Modified ulnar lengthening for correction of the Masada type 2 forearm deformity in hereditary multiple exostosis
• Multiple Cartilaginous Exostoses in a Cat
• Multiple osteochondroma of the hand: initial and long-term follow-up study
• Multiple Skeletal Deformities in a Middle-Aged Man
• 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
• Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
• Natural History and Characteristics of Hand Exostoses in Multiple Hereditary Exostoses
• Neurological changes in Giedion's syndrome (tricho-rhinophalagia type I)
• New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
• Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia
• Positional cloning of the putative gene responsible for transient abnormal myelopoiesis and that for multiple cartilaginous exostoses
• Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis
• Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production
• Recent studies on the biological action of parathyroid hormone (PTH)-related peptide (PTHrP) and PTH/PTHrP receptor in cartilage and bone
• Reconstruction of forearm deformities in multiple cartilaginous exostoses
• Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher
• Retinoid roles and action in skeletal development and growth provide the rationale for an ongoing heterotopic ossification prevention trial
• Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant
• SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates
• Single-Bone Forearm as a Salvage Procedure in Recalcitrant Pediatric Forearm Pathologies
• Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III
• The cyclin D1 and cyclin A genes are targets of activated PTH/PTHrP receptors in Jansen's metaphyseal chondrodysplasia
• The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult
• The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins
• The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate
• The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate
• The short-lived exostosis induced surgically versus the lasting genetic hereditary multiple exostoses
• The tricho-rhino-phalangeal syndrome revisited
• 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
• Trichorhinophalangeal syndrome type 1: A case report with literature review
• Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome)
• Type I osteogenesis imperfecta and multiple osteochondromas in the same child
• Ulnar Distraction Osteogenesis in the Treatment of Forearm Deformities in Children With Multiple Hereditary Exostoses
• Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population
• Vascular anomalies in Proteus syndrome
• Vitrified blastocysts from Preimplantation Genetic Diagnosis (PGD) as a source for human Embryonic Stem Cell (hESC) derivation
• 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