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EXT Reference Page.

Published manuscripts on Hereditary multiple exostoses with links to the NCBI PubMed Database. Last updated 5/24/04.

• Han et al. (2004)Distinct and collaborative roles of Drosophila EXT family proteins in morphogen signalling and gradient formation. Development.131(7):1563-75.

• Tol et al. (2004) The anterior ankle impingement syndrome: diagnostic value of oblique radiographs. Foot Ankle Int.25(2):63-8.

• Takao et al. (2004)Arthroscopic treatment for anterior impingement exostosis of the ankle: application of three-dimensional computed tomography.Foot Ankle Int.25(2):63-8.

• Wuyts et al. (2004) Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.Eur J Hum Genet. 12(5):400-6.

• Korinth et al. (2004) Cervical cord exostosis compressing the axis in a boy with hereditary multiple exostoses. Case illustration. J Neurosurg 100(2):223. no abstarct available.

• Nixon et al. (2004) Exostoses of the caudal perimeter of the radial physis as a cause of carpal synovial sheath tenosynovitis and lameness in horses: 10 cases (1999-2003). J Am Vet Med Assoc. 224(2):264-70.

• Lee et al. (2003) Effect of extracorporeal shock waves on calcaneal bone spurs.Foot Ankle Int. 24(12):927-30.

• Hammer et al. (2003) Extracorporeal shock wave therapy (ESWT) in patients with chronic proximal plantar fasciitis: a 2-year follow-up.Foot Ankle Int 24(11):823-8..

• Vujic et al. (2003) Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes.Int J Mol Med.13(1):47-52.

• Jiang et al. (2003) Clinicopathologic analysis of 154 cases of tumors and tumor-like lesions in the bones of hands and feet Zhonghua Bing Li Xue Za Zhi. 32(5):417-21. Abstract in English, article in Chinese.

• Murase et al. (2003) Deviation of a finger at the proximal interphalangeal joint caused by juxta-articular exostosis. Scand J Plast Reconstr Surg Hand Surg 37(4):248-51.

• Ballantyne et al. (2003) Wrist and forearm dysfunction in hereditary multiple exostoses.J Hand Surg28 Suppl 1:26. no abstract available.

• Pramparo et al. (2003) Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male. Am J Med Genet. 123A(1):79-83.

• Nassar et al. (2003) A rare cause of spinal cord compression: osteochondroma of the thoracic spine. A case report J Radiol.84(9):1020-2. Abstract in English, article in French

• Kim et al. (2003) In vitro heparan sulfate polymerization: crucial roles of core protein moieties of primer substrates in addition to the EXT1-EXT2 interaction. J Biol Chem. 24;278(43):41618-23.

• Jaeken (2003) Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it! J Inherit Metab Dis 26(2-3):99-118.

• Terpstra et al. (2003) Reduced chondrocyte proliferation and chondrodysplasia in mice lacking the integrin-linked kinase in chondrocytes. J Cell Biol. 162(1):139-48

• Alifano et al. (2003) An unusual cause of hiccup: costal exostosis. Treatment by video-assisted thoracic surgery.Eur J Cardiothorac Surg. 23(6):1056-8

• Restrepo et al. (2003) Tc-99m MDP imaging in hereditary multiple exostoses. Clin Nucl Med. 28(7):589-90. no abstract available.

• Andrikopoulos et al. (2003) Arterial compromise caused by lower limb osteochondroma. Vasc Endovascular Surg 37(3):185-90.

• Ahmed et al. (2003) Secondary chondrosarcoma in osteochondroma: report of 107 patients. Clin Orthop. 411:193-206

• Perez et al. (2003) Modified surgical approach for retrocalcaneal exostectomy with early return to weight bearing. Clin Podiatr Med Surg. 20(2):361-6

• Elston and Welsch (2003) What is your diagnosis? Exostoses. Cutis 71(5):350, 363-4.

• Trebicz-Geffen et al. (2003) The short-lived exostosis induced surgically versus the lasting genetic hereditary multiple exostoses. Exp Mol Pathol. 74(1):40-8.

• Fukai et al. (2003) Pericardial hemorrhage caused by costal exostosis. Ann Thorac Surg. 74(6):2171-2.

• Tiet and Alman (2003) Developmental pathways in musculoskeletal neoplasia: involvement of the Indian Hedgehog-parathyroid hormone-related protein pathway. Pediatr Res. 53(4):539-43

• Hajjar et al. (2003) Unusual presentation of rib exostosis. Ann Thorac Surg. 75(2):575-7

• Burks and Buk (2003) Bilateral fractures of the infracalcaneal exostosis. J Foot Ankle Surg. 42(1):43-4

• Ip et al. (2003) Reconstruction of forearm deformities in multiple cartilaginous exostoses. J Pediatr Orthop B 12(1):17-21.

• Ohtori et al. (2003) Osteochondroma in the lumbar spinal canal causing sciatic pain: report of two cases. J Orthop Sci. 8(1):112-5.

• Chamlou et al. (2002) Popliteal artery pseudo-aneurysm and hereditary multiple exostoses. Acta Chir Belg 102(6):467-9

• Shi et al. (2002) Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan. Genet Test. 6(3):237-43.

• Wuyts et al. (2002) Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion. Am J Med Genet 113(4):326-32.

• Zak et al. (2002) Hereditary multiple exostoses and heparan sulfate polymerization. Biochim Biophys Acta 1573(3):346-55..

• Feely et al. (2002) Cytogenetic and molecular cytogenetic evidence of recurrent 8q24.1 loss in osteochondroma. Cancer Genet Cytogenet. 137(2):102-7.

• Hall et al. (2002) Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. Am J Med Genet 112(1):1-5

• Cirak et al. (2002) Cervical osteochondroma as a cause of spinal cord compression in a patient with hereditary multiple exostoses: Computed tomography and magnetic resonance imaging findings. Australas Radiol. 46(3):309-11..

• Hendel et al. (2002) Utility of planar bone scintigraphy to distinguish benign osteochondromas from malignant chondrosarcomas. Clin Nucl Med 27(9):622-4.

• Rambeloarisoa et al. (2002) Hereditary multiple exostoses after 40 years of development: a case report Rev Med Interne. 23(7):657-64. Abstract in English and article in French

• Pierz et al. (2002) Hereditary multiple exostoses: one center's experience and review of etiology. Clin Orthop Aug;(401):49-59.

• Bamba et al. (2002) Multiple exostoses. Review of the literature. Apropos of a case disclosed during an injury. Bull Soc Pathol Exot. 95(2):83-5. Abstract in English and article in French

• Faggiano et al. (2002) Uncommon clinical course of multiple osteochondromatosis in a patient with a long-term history of Cushing's disease. Pituitary 4(3):187-93.

• Hecht et al. (2002) Heparan sulfate abnormalities in exostosis growth plates. Bone 31(1):199-204.

• 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.

• Wuyts et al. (2001) Burning down DEFECT11 Am J Med Genet. 100:331-5

• Duncan G, McCormick C, Tufaro F. (2001) The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins..J Clin Invest 108(4):511-6.

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