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Published manuscripts on Hereditary multiple exostoses with links to the NCBI PubMed Database. Last updated 11/08/00.

• Bernard MA, et al. (2000) Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations.J Bone Miner Res.15(3):442-50.

• Dobson-Stone et al. (2000) Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. Eur J Hum Genet 8(1):24-32.

• Geher P, et al. (2000) Two familial cases of hereditary multiple exostoses.Orv Hetil.141(6):289-93.

• Kivioja A, et al. (2000) Chondrosarcoma in a family with multiple hereditary exostoses.J Bone Joint Surg Br.82(2):261-6.

• Kobayashi S, et al. (2000) Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. Biochem Biophys Res Commun. 268(3):860-7.

• Legeai-Mallet L, et al. (2000) EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses. J Bone Miner Res. 15(8):1489-500.

• Lin X, et al. (2000) Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice.Dev Biol.224(2):299-311.

• McCormick C, et al. (2000) The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.Proc Natl Acad Sci U S A. 97(2):668-73.

• Paik NJ, et al. (2000) Multipel peripheral nerve compressions related to malignantly transformed hereditary multiple exostoses. Muscle Nerve. 23 (8):1290-4.

• Porter DE, et al. (2000) Clinical and radiographic analysis of osteochondromas and growth disturbance in hereditary multiple exostoses. Pediatr Orthop. 20(2):246-50.

• Stickens D, et al. (2000) EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis. Dev Dyn. 218(3):452-64.

• Toguchida J, et al. (2000) Multiple exostoses. Nippon Rinsho. 58(7):1473-8.

• Wuyts W and Van Hul W (2000) Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.Hum Mutat. 15(3):220-7.

• Simmons AD, et al. (1999) A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. Hum Mol Genet. 8(12):2155-64.

• Porter DE, et al. (1999) The neoplastic pathogenesis of solitary and multiple osteochondromas. J Pathol. 188(2):119-125.

• de Gauzy JS, et al. (1999) Kienbock's disease and multiple hereditary osteochondromata: a case report. J Hand Surg [Am]. 24(3):642-6.

• Kitagawa H, et al. (1999) The tumor suppressor EXT-like gene EXTL2 encodes an alpha1, 4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate. J Biol Chem. 274(20):13933-7.

• McCormick C, et al. (1999) New perspectives on the molecular basis of hereditary bone tumours. Mol Med Today. 5(11):481-6.

• Cottalorda J, et al. (1998) Intra-thoracic costal sites of osteogenic exostoses in the child. Rev Chir Orthop Reparatrice Appar Mot. 84(6):563-6.

• Rossi A, et al. (1998) 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. Matrix Biol. 17(5):361-9.

• Hayes TB, et al. (1998) Hereditary exostoses--presentation of a family case. Tidsskr Nor Laegeforen. 118(24):3769-72.

• Tang WM, et al. (1998) Costal osteochondroma. A rare cause of spinal cord compression. Spine. 23(17):1900-3.

• Lind T, et al. (1998) The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. J Biol Chem. 273(41):26265-8.

• Yueh YG, et al. (1998) Evidence for regulation of cartilage differentiation by the homeobox gene Hoxc-8. Proc Natl Acad Sci U S A. 95(17):9956-61.

• Lin X, et al. (1998) Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene. Biochem Biophys Res Commun. 248(3):738-43.

• Himelstein BP. (1998) Osteosarcoma and other bone cancers. Curr Opin Oncol. 10(4):326-33.

• Schmitt AM, et al. (1997) Subungueal exostosis of fingers in hereditary multiple exostosis. 3 cases. Ann Dermatol Venereol. 124(3):233-6.

• Ingham PW. (1998) Boning up on Hedgehog's movements. Nature. 394(6688):16-7.

• Wai AW, et al. (1998) Disrupted expression of matrix genes in the growth plate of the mouse cartilage matrix deficiency (cmd) mutant. Dev Genet. 22(4):349-58.

• McCormick C, et al. (1998) The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. Nat Genet. 19(2): 158-161.

• Ozaki T, et al. (1998) Multicentric malignant transformation of multiple exostoses. Skeletal Radiol. 27(4):233-6.

• Bridge JA, et al. (1998) Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas. Cancer. 82(9): 1657-1663.

• Hori T, et al. (1998) A distamycin A-inducible fragile site, FRA8E, located in the region of the hereditary multiple exostoses gene, is not involved in HPV16 DNA integration and amplification. Cancer Genet Cytogenet. 101(1): 24-34.

• Tang Y, et al. (1998) Localization of the gene for 4 hereditary multiple exostoses families. I Chuan Hsueh Pao. 25(1): 1-7.

• Farrett WD Jr, et al. (1998) Rare presentation of hereditary multiple exostoses. A case report. J Am Podiatr Med Assoc. 88(3): 135-139.

• Ligon AH, et al. (1998) Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome. Am J Med Genet. 75(5): 538-540.

• Saito et al. (1998) Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. Biochem Biophys Res Commun 243(1):61-66 .

• Van Hul et al. (1998) Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. Genomics 47(2):230-237 .

• Raskind et al. (1998) Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. Hum Mutat 11(3):231-239 .

• Wuyts et al. (1998) Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am J Hum Genet62(2):346-354 .

• Lopes A, et al. (1997) Chondrosarcoma secondary to hereditary multiple exostosis treated by extended internal hemipelvectomy. Rev Paul Med. 115(3): 1440-1443.

• Jiya TU, et al. (1997) Surgical treatment of wrist deformity in hereditary multiple exostosis Acta Orthop Belg. 63(4): 256-261.

• Arms DM, et al. (1997) Management of forearm deformity in multiple hereditary osteochondromatosis. J Pediatr Orthop. 17(4): 450-454.

• Bair HJ, et al. (1997) Malignant transformation in multiple cartilaginous exostoses; Diagnostic value of magnetic resonance tomography. Rontgenpraxis. 50(7): 207-211.

• Atiq M, et al. (1997) Familial progressive cardiac conduction disorder and multiple exostoses. JPMA J Pak Med Assoc. 47(6): 169-172.

• Ergun R, et al. (1997) Cervical laminar exostosis in multiple hereditary osteochondromatosis: anterior stabilization and fusion technique for preventing instability. Eur Spine J. 6(4): 267-269.

• Legeai-Mallet L, et al. (1997) Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet. 52(1): 12-16.

• Simansky DA, et al. (1997) Exostosis of a rib causing laceration of the diaphragm: diagnosis and management. Ann Thorac Surg. 63(3): 856-857.

• Bessler W, et al. (1997) Kissing osteochondromata leading to synostoses. Eur Radiol. 7(4): 480-485.

• Willms R, et al. (1997) Malignant transformation of a multiple cartilaginous exostosis--a case report. Int Orthop. 21(2): 133-136.

• Stickens et al. (1997) Isolation and characterization of the murine homolog of the human EXT2 multiple exostoses gene.Biochem Mol Med 61(1):16-21

• Wuyts et al. (1997) Identification and characterization of a novel member of the EXT gene family, EXTL2. Eur J Hum Genet 5(6):382-389

• Lin et al. (1997) Isolation of the mouse cDNA homologous to the human EXT1 gene responsible for Hereditary Multiple Exostoses. DNA Seq 7(3-4):199-202 .

• Hill et al. (1997) Assignment of fragile site 8E (FRA8E) to human chromosome band 8q24.11 adjacent to the hereditary multiple exostoses 1 gene and two overlapping Langer-Giedion syndrome deletion endpoints. Cytogenet Cell Genet 78(1):56-57.

• Ishikawa-Brush et al. (1997) Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene. Hum Mol Genet 6(8):1241-1250.

• Philippe et al. (1997) Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Am J Hum Genet 61(3):520-528.

• Wells et al. (1997) Identification of novel mutations in the human EXT1 tumor suppressor gene. Human Genetics 99 : 612-615.

• Ludecke et al. (1997) Genomic organization and promoter structure of the human EXT1 gene.Genomics 40: 351-354.

• Hecht et al. (1997) Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. American Journal of Human Genetics 60: 80-86.

• Legeai-Mallet et al. (1997) An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses.Human Genetics 99: 298-302.

• Glockenberg et al. (1997) Multiple hereditary osteochondromatosis. Two cases with ankle and knee deformities. J Am Podiatr Med Assoc 87: 70-73.

• Wise et al. (1997) Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Genome Research 7: 10-16.

• Mikawa et al. (1997) Cervical spinal cord compression in hereditary multiple exostoses. Report of a case and a review of the literature. Arch Orthop Trauma Surg 116: 112-115.

• Saunders et al. (1997) Chondrosarcoma of the hand arising in a young patient with multiple hereditary exostoses. J Hand Surg [Br] 22 : 237-242.

• Clines et al. (1997) The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. Genome Research 7: 359-367.

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