메뉴 건너뛰기




Volumn , Issue , 2009, Pages 411-423

Sclerosing Bone Disorders

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84889420953     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9780470623992.ch88     Document Type: Chapter
Times cited : (9)

References (115)
  • 1
    • 84889281893 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man 2000 OMIM. Available online at, Accessed September 2, 2008
    • Online Mendelian Inheritance in Man 2000 OMIM. Available online at http://www.ncbi.nlm.nih.gov/omim. Accessed September 2, 2008.
  • 2
    • 84895329329 scopus 로고    scopus 로고
    • Abnormal Skeletal Phenotypes: From Simple Signs To Complex Diagnoses
    • Springer, New York, NY, USA
    • Castriota-Scanderbeg A, Dallapiccola B 2005 Abnormal Skeletal Phenotypes: From Simple Signs To Complex Diagnoses. Springer, New York, NY, USA.
    • (2005)
    • Castriota-Scanderbeg, A.1    Dallapiccola, B.2
  • 3
    • 0000758497 scopus 로고
    • Röntgenbilder einer seltenen, Knoch!-!enerkrankung
    • Albers-Schönberg H 1904 Röntgenbilder einer seltenen, Knoch!-!enerkrankung. Meunch Med Wochenschr 51:365.
    • (1904) Meunch Med Wochenschr , vol.51 , pp. 365
    • Albers-Schönberg, H.1
  • 4
    • 0042605325 scopus 로고    scopus 로고
    • Osteopetrosis
    • Royce PM, Steinmann B (eds.), 2nd ed. Wiley-Liss, New York, NY, USA
    • Whyte MP 2002 Osteopetrosis. In: Royce PM, Steinmann B (eds.) Connective Tissue and Its Heritable Disorders, 2nd ed. Wiley-Liss, New York, NY, USA, pp. 789-807.
    • (2002) Connective Tissue and Its Heritable Disorders , pp. 789-807
    • Whyte, M.P.1
  • 5
    • 0014265074 scopus 로고
    • Osteopetrosis: A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form
    • Johnston CC Jr, Lavy N, Lord T, Vellios F, Merritt AD, Deiss WP Jr 1968 Osteopetrosis: A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form. Medicine (Baltimore) 47:149-167.
    • (1968) Medicine (Baltimore) , vol.47 , pp. 149-167
    • Johnston Jr, C.C.1    Lavy, N.2    Lord, T.3    Vellios, F.4    Merritt, A.D.5    Deiss Jr, W.P.6
  • 8
    • 0023902937 scopus 로고
    • The association of infantile osteopetrosis and neuronal storage disease in two brothers
    • Jagadha V, Halliday WC, Becker LE. Hinton D 1988 The association of infantile osteopetrosis and neuronal storage disease in two brothers. Acta Neuropathol (Berl) 75:233-240.
    • (1988) Acta Neuropathol (Berl) , vol.75 , pp. 233-240
    • Jagadha, V.1    Halliday, W.C.2    Becker, L.E.3    Hinton, D.4
  • 11
    • 28244466312 scopus 로고    scopus 로고
    • A clinical and molecular overview of the human osteopetroses
    • Balemans W, Van Wesenbeeck L, Van Hul W 2005 A clinical and molecular overview of the human osteopetroses. Calcif Tissue Int 77:263-274.
    • (2005) Calcif Tissue Int , vol.77 , pp. 263-274
    • Balemans, W.1    Van Wesenbeeck, L.2    Van Hul, W.3
  • 12
    • 0033894410 scopus 로고    scopus 로고
    • Bilateral visual improvement after unilateral optic canal decompression and cranial vault expansion in a patient with osteopetrosis, narrowed optic canals, and increased intracranial pressure
    • Vanier V, Miller R, Carson BS 2000 Bilateral visual improvement after unilateral optic canal decompression and cranial vault expansion in a patient with osteopetrosis, narrowed optic canals, and increased intracranial pressure. J Neurol Neurosurg Psychiatry 69:405-406.
    • (2000) J Neurol Neurosurg Psychiatry , vol.69 , pp. 405-406
    • Vanier, V.1    Miller, R.2    Carson, B.S.3
  • 13
    • 33947531662 scopus 로고    scopus 로고
    • Autosomal dominant osteopetrosis: Clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation
    • Waguespack SG, Hui SL, DiMeglio LA, Econs MJ 2007 Autosomal dominant osteopetrosis: Clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. J Clin Endocrinol Metab 92:771-778.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 771-778
    • Waguespack, S.G.1    Hui, S.L.2    DiMeglio, L.A.3    Econs, M.J.4
  • 14
    • 0024389809 scopus 로고
    • Autosomal dominant osteopetrosis: Bone metabolism and epidemiological, clinical and hormonal aspects
    • Bollerslev J 1989 Autosomal dominant osteopetrosis: Bone metabolism and epidemiological, clinical and hormonal aspects. Endoer Rev 10:45-67.
    • (1989) Endoer Rev , vol.10 , pp. 45-67
    • Bollerslev, J.1
  • 15
    • 0003571166 scopus 로고    scopus 로고
    • Diagnosis of Bone and Joint Disorders
    • 4th ed. Saunders, Philadelphia, PA, USA
    • Resnick D, Niwayama G 2002 Diagnosis of Bone and Joint Disorders, 4th ed. Saunders, Philadelphia, PA, USA.
    • (2002)
    • Resnick, D.1    Niwayama, G.2
  • 18
    • 0026604087 scopus 로고
    • Cranial imaging in autosomal recessive osteopetrosis (parts I & II)
    • Elster AD, Theros EG, Key LL, Chen MYM 1992 Cranial imaging in autosomal recessive osteopetrosis (parts I & II). Radiology 183:129-144.
    • (1992) Radiology , vol.183 , pp. 129-144
    • Elster, A.D.1    Theros, E.G.2    Key, L.L.3    Chen, M.Y.M.4
  • 20
    • 0029782606 scopus 로고    scopus 로고
    • Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetrosis among the sclerosing bone disorders
    • Whyte MP, Chines A. Silva DP Jr, Landt Y, Ladenson JH 1996 Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetrosis among the sclerosing bone disorders. J Bone Miner Res 11:1438-1443.
    • (1996) J Bone Miner Res , vol.11 , pp. 1438-1443
    • Whyte, M.P.1    Chines, A.2    Silva Jr., D.P.3    Landt, Y.4    Ladenson, J.H.5
  • 21
    • 2142810972 scopus 로고    scopus 로고
    • Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in AlbersSchönberg disease (type II autosomal dominant osteopetrosis)
    • Alatalo SL, Ivaska KK, Waguespack SG, Econs MJ, Vaananen HK, Halleen JM 2004 Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in AlbersSchönberg disease (type II autosomal dominant osteopetrosis). Clin Chem 50:883-890.
    • (2004) Clin Chem , vol.50 , pp. 883-890
    • Alatalo, S.L.1    Ivaska, K.K.2    Waguespack, S.G.3    Econs, M.J.4    Vaananen, H.K.5    Halleen, J.M.6
  • 24
    • 0024336407 scopus 로고
    • Structural and histomorphometric studies of iliac crest trabecular and cortical bone in auto somal dominant osteopetrosis: A study of two radiological types
    • Bollerslev J, Steiniche T, Meisen F, Mosekilde L 1986 Structural and histomorphometric studies of iliac crest trabecular and cortical bone in auto somal dominant osteopetrosis: A study of two radiological types. Bone 10:19-24.
    • (1986) Bone , vol.10 , pp. 19-24
    • Bollerslev, J.1    Steiniche, T.2    Meisen, F.3    Mosekilde, L.4
  • 25
    • 0029910732 scopus 로고    scopus 로고
    • Demonstration of an osteoblast defect in two cases of human malignant osteopetrosis. Correction of the phenotype after bone marrow transplant
    • Lajeunesse D, Busqué L, Ménard P, Brunette MG, Bonny Y 1996 Demonstration of an osteoblast defect in two cases of human malignant osteopetrosis. Correction of the phenotype after bone marrow transplant. Bone 98:1835-1842.
    • (1996) Bone , vol.98 , pp. 1835-1842
    • Lajeunesse, D.1    Busqué, L.2    Ménard, P.3    Brunette, M.G.4    Bonny, Y.5
  • 26
    • 0023787752 scopus 로고
    • Osteoclasts in human osteopetrosis contain viralnucleocapsid-like nuclear inclusions
    • Mills BG, Yabe H, Singer FR 1988 Osteoclasts in human osteopetrosis contain viralnucleocapsid-like nuclear inclusions. J Bone Miner Res 3:101-106.
    • (1988) J Bone Miner Res , vol.3 , pp. 101-106
    • Mills, B.G.1    Yabe, H.2    Singer, F.R.3
  • 30
  • 34
    • 9144221391 scopus 로고    scopus 로고
    • The Working Party on Inborn Errors of the European Blood and Marrow Transplantation Group. Severe pulmonary hypertension: A frequent complication of stem cell transplantation for malignant infantile osteopetrosis
    • Steward CG. Pellier I, Mahajan A, Ashworth MT, Stuart AG, Fasth A. Lang D, Fischer A, Friedrich W, Schulz AS 2004 The Working Party on Inborn Errors of the European Blood and Marrow Transplantation Group. Severe pulmonary hypertension: A frequent complication of stem cell transplantation for malignant infantile osteopetrosis. Br J Haematol 124:63-71.
    • (2004) Br J Haematol , vol.124 , pp. 63-71
    • Steward, C.G.1    Pellier, I.2    Mahajan, A.3    Ashworth, M.T.4    Stuart, A.G.5    Fasth, A.6    Lang, D.7    Fischer, A.8    Friedrich, W.9    Schulz, A.S.10
  • 35
    • 25844473144 scopus 로고    scopus 로고
    • Successful nonmyeloablative cord blood transplantation for an infant with malignant infantile osteopetrosis
    • Tsuji Y, Ito S, Isoda T, Kajiwara M, Nagasawa M, Morio T, Mizutani S 2005 Successful nonmyeloablative cord blood transplantation for an infant with malignant infantile osteopetrosis. J Pediatr Hematol Oncol 27:495-198.
    • (2005) J Pediatr Hematol Oncol , vol.27 , pp. 495-198
    • Tsuji, Y.1    Ito, S.2    Isoda, T.3    Kajiwara, M.4    Nagasawa, M.5    Morio, T.6    Mizutani, S.7
  • 36
    • 7844223240 scopus 로고
    • Osteopetrosis: A genetic window into osteoclast function. Cases Metab Bone Dis. A CPC Series.
    • New York, NY, USA
    • Key LL Jr 1987 Osteopetrosis: A genetic window into osteoclast function. Cases Metab Bone Dis. A CPC Series. Triclinica Communications. New York, NY, USA, 2:1-12.
    • (1987) Triclinica Communications , vol.2 , pp. 1-12
    • Key Jr., L.L.1
  • 37
    • 0022527082 scopus 로고
    • Juvenile osteopetrosis: Effects of blood and bone of prednisone and low calcium, high phosphate diet
    • Dorantes LM, Mejia AM, Dorantes S 1986 Juvenile osteopetrosis: Effects of blood and bone of prednisone and low calcium, high phosphate diet. Arch Dis Child 61:666-670.
    • (1986) Arch Dis Child , vol.61 , pp. 666-670
    • Dorantes, L.M.1    Mejia, A.M.2    Dorantes, S.3
  • 40
    • 33644551541 scopus 로고    scopus 로고
    • Total joint arthroplasty in patients with osteopetrosis: A report of 5 cases and review of the literature
    • Strickland JP, Berry DJ 2005 Total joint arthroplasty in patients with osteopetrosis: A report of 5 cases and review of the literature. J Arthoplasty 20:815-820.
    • (2005) J Arthoplasty , vol.20 , pp. 815-820
    • Strickland, J.P.1    Berry, D.J.2
  • 41
    • 0001690310 scopus 로고
    • Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
    • Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE 1983 Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci USA 80:2752-2756.
    • (1983) Proc Natl Acad Sci USA , vol.80 , pp. 2752-2756
    • Sly, W.S.1    Hewett-Emmett, D.2    Whyte, M.P.3    Yu, Y.S.4    Tashian, R.E.5
  • 42
    • 0027304956 scopus 로고
    • Carbonic anhydrase II deficiency
    • Whyte MP 1993 Carbonic anhydrase II deficiency. Clin Orthop 294:52-63.
    • (1993) Clin Orthop , vol.294 , pp. 52-63
    • Whyte, M.P.1
  • 43
    • 0003044668 scopus 로고    scopus 로고
    • The carbonic anhydrase II deficiency syndrome: Osteopetrosis with renal tubular acidosis and cerebral calcification
    • Scriver CR, Beaudet AL, Sly WS, Valle D, Child B, Vogelstein B (eds.), 8th ed. McGraw-Hill Book Company. New York, NY, USA
    • Sly WS, Shah GN 2001 The carbonic anhydrase II deficiency syndrome: Osteopetrosis with renal tubular acidosis and cerebral calcification. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Child B, Vogelstein B (eds.) The Metabolic and Molecular Bases of Inherited Disease, 8th ed. McGraw-Hill Book Company. New York, NY, USA, pp. 5331-5343.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 5331-5343
    • Sly, W.S.1    Shah, G.N.2
  • 45
    • 15044355321 scopus 로고    scopus 로고
    • Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for geno-type-phenotype correlation
    • Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS 2004 Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for geno-type-phenotype correlation. Hum Mutat 24:272.
    • (2004) Hum Mutat , vol.24 , pp. 272
    • Shah, G.N.1    Bonapace, G.2    Hu, P.Y.3    Strisciuglio, P.4    Sly, W.S.5
  • 46
    • 0023801326 scopus 로고
    • Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase II deficiency)
    • Whyte MP, Hamm LL III, Sly WS 1988 Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase II deficiency). J Bone Miner Res 3:385-388.
    • (1988) J Bone Miner Res , vol.3 , pp. 385-388
    • Whyte, M.P.1    Hamm III, L.L.2    Sly, W.S.3
  • 47
    • 0035313176 scopus 로고    scopus 로고
    • Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome
    • McMahon C, Will A, Hu P, Shah GN, Sly WS, Smith OP 2001 Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome. Blood 97:1947-1950.
    • (2001) Blood , vol.97 , pp. 1947-1950
    • McMahon, C.1    Will, A.2    Hu, P.3    Shah, G.N.4    Sly, W.S.5    Smith, O.P.6
  • 48
    • 0001720822 scopus 로고
    • The malady of Toulouse-Lautrec
    • Maroteaux P, Lamy M 1965 The malady of Toulouse-Lautrec. JAMA 191:715-717.
    • (1965) JAMA , vol.191 , pp. 715-717
    • Maroteaux, P.1    Lamy, M.2
  • 49
    • 73649185887 scopus 로고
    • La pycnodysostose
    • Maroteaux P, Lamy M 1962 La pycnodysostose. Presse Med 70:999-1002.
    • (1962) Presse Med , vol.70 , pp. 999-1002
    • Maroteaux, P.1    Lamy, M.2
  • 50
    • 0008012345 scopus 로고    scopus 로고
    • Pycnodysostosis: Cathep-sin K deficiency
    • Scriver CR, Beaudet AL, Sly WS, Valle D, Child B, Vogelstein B (eds.), 8th ed. McGraw-Hill Book Company, New York, NY, USA
    • Gelb BD, Bromme D, Desnick RJ 2001 Pycnodysostosis: Cathep-sin K deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Child B, Vogelstein B (eds.) The Metabolic and Molecular Bases of Inherited Disease, 8th ed. McGraw-Hill Book Company, New York, NY, USA, pp. 3453-3468.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3453-3468
    • Gelb, B.D.1    Bromme, D.2    Desnick, R.J.3
  • 51
    • 0001304162 scopus 로고
    • Pycnodysostosis: A review
    • Elmore SM 1967 Pycnodysostosis: A review. J Bone Joint Surg Am 49:153-162.
    • (1967) J Bone Joint Surg Am , vol.49 , pp. 153-162
    • Elmore, S.M.1
  • 53
    • 0021991222 scopus 로고
    • Phagocytosis of bone collagen by osteoclasts in two cases of pycnodysostosis
    • Everts V, Aronson DC, Beertsen W 1985 Phagocytosis of bone collagen by osteoclasts in two cases of pycnodysostosis. Calcif Tissue Int 37:25-31.
    • (1985) Calcif Tissue Int , vol.37 , pp. 25-31
    • Everts, V.1    Aronson, D.C.2    Beertsen, W.3
  • 54
    • 0023474352 scopus 로고
    • Paramyxovirus-like inclusions in two cases of pycnodysostosis
    • Beneton MNC, Harris S, Kanis JA 1987 Paramyxovirus-like inclusions in two cases of pycnodysostosis. Bone 8:211-217.
    • (1987) Bone , vol.8 , pp. 211-217
    • Beneton, M.N.C.1    Harris, S.2    Kanis, J.A.3
  • 55
    • 0029786774 scopus 로고    scopus 로고
    • Defective growth hormone secretion in children with pycnodysostosis and improved linear growth after growth hormone treatment
    • Soliman AT, Rajab A, AlSalmi I, Darwish A, Asfour M 1996 Defective growth hormone secretion in children with pycnodysostosis and improved linear growth after growth hormone treatment. Arch Dis Child 75:242-244.
    • (1996) Arch Dis Child , vol.75 , pp. 242-244
    • Soliman, A.T.1    Rajab, A.2    AlSalmi, I.3    Darwish, A.4    Asfour, M.5
  • 58
    • 0026760752 scopus 로고
    • Pycnodysostosis: Orthopedic aspects, with a description of 14 new cases
    • Edelson JG, Obad S, Geiger R, On A, Artul HJ 1992 Pycnodysostosis: Orthopedic aspects, with a description of 14 new cases. Clin Orthop 280:263-276.
    • (1992) Clin Orthop , vol.280 , pp. 263-276
    • Edelson, J.G.1    Obad, S.2    Geiger, R.3    On, A.4    Artul, H.J.5
  • 59
    • 0000210929 scopus 로고
    • Ein fall von osteopathia hyperostotica (sclerotisans) multiplex infantilis
    • Engelmann G 1929 Ein fall von osteopathia hyperostotica (sclerotisans) multiplex infantilis. Fortschr Geb Roentgen 39:1101-1106.
    • (1929) Fortschr Geb Roentgen , vol.39 , pp. 1101-1106
    • Engelmann, G.1
  • 60
    • 0035853778 scopus 로고    scopus 로고
    • Domain-specific mutations of a transforming growth factor (TGF)-f31 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-f31
    • Saito T, Kinoshita A, Yoshiura KI, Makita Y, Wakui K, Honke K, Niikawa N, Taniguchi N 2001 Domain-specific mutations of a transforming growth factor (TGF)-f31 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-f31. J Biol Chem 276:11469-11472.
    • (2001) J Biol Chem , vol.276 , pp. 11469-11472
    • Saito, T.1    Kinoshita, A.2    Yoshiura, K.I.3    Makita, Y.4    Wakui, K.5    Honke, K.6    Niikawa, N.7    Taniguchi, N.8
  • 61
    • 4444342943 scopus 로고    scopus 로고
    • Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): Report of a four-generation pedigree, identification of a mutation in TGFB1, and review
    • Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR 2004 Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): Report of a four-generation pedigree, identification of a mutation in TGFB1, and review. Am J Med Genet A 129:235-247.
    • (2004) Am J Med Genet A , vol.129 , pp. 235-247
    • Wallace, S.E.1    Lachman, R.S.2    Mekikian, P.B.3    Bui, K.K.4    Wilcox, W.R.5
  • 62
    • 0022341381 scopus 로고
    • Muscle involvement in progressive diaphyseal dysplasia
    • Naveh Y, Ludatshcer R, Alon U, Sharf B 1985 Muscle involvement in progressive diaphyseal dysplasia. Pediatrics 76:944-949.
    • (1985) Pediatrics , vol.76 , pp. 944-949
    • Naveh, Y.1    Ludatshcer, R.2    Alon, U.3    Sharf, B.4
  • 63
    • 0020049316 scopus 로고
    • Engelmann's disease of bone: A systemic disorder?
    • Crisp AJ, Brenton DP 1982 Engelmann's disease of bone: A systemic disorder? Ann Rheum Dis 41:183-188.
    • (1982) Ann Rheum Dis , vol.41 , pp. 183-188
    • Crisp, A.J.1    Brenton, D.P.2
  • 64
    • 0017616858 scopus 로고
    • Clinical and biochemical studies in Engelmann's disease (progressive diaphyseal dysplasia)
    • Smith R, Walton RJ, Corner BD, Gordon IR 1977 Clinical and biochemical studies in Engelmann's disease (progressive diaphyseal dysplasia). Q J Med 46:273-294.
    • (1977) Q J Med , vol.46 , pp. 273-294
    • Smith, R.1    Walton, R.J.2    Corner, B.D.3    Gordon, I.R.4
  • 65
    • 0019520271 scopus 로고
    • Progressive diaphyseal dysplasia (Englemann's disease): Scintigraphic-radiologic-clinical correlations
    • Kumar B, Murphy WA, Whyte MP 1981 Progressive diaphyseal dysplasia (Englemann's disease): Scintigraphic-radiologic-clinical correlations. Radiology 140:87-92.
    • (1981) Radiology , vol.140 , pp. 87-92
    • Kumar, B.1    Murphy, W.A.2    Whyte, M.P.3
  • 66
    • 0025734771 scopus 로고
    • MR of multiple cranial neuropathies in a patient with Camurati-Engelmann disease: Case report
    • Applegate LJ, Applegate GR, Kemp SS 1991 MR of multiple cranial neuropathies in a patient with Camurati-Engelmann disease: Case report. Am Soc Neuroradiol 12:557-559.
    • (1991) Am Soc Neuroradiol , vol.12 , pp. 557-559
    • Applegate, L.J.1    Applegate, G.R.2    Kemp, S.S.3
  • 67
    • 0037470182 scopus 로고    scopus 로고
    • Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein
    • Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W 2003 Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. J Biol Chem 278:7718-7724.
    • (2003) J Biol Chem , vol.278 , pp. 7718-7724
    • Janssens, K.1    Ten Dijke, P.2    Ralston, S.H.3    Bergmann, C.4    Van Hul, W.5
  • 68
    • 0034061117 scopus 로고    scopus 로고
    • Anticipation in progressive diaphyseal dysplasia
    • Saraiva JM 2000 Anticipation in progressive diaphyseal dysplasia. J Med Genet 37:394-395.
    • (2000) J Med Genet , vol.37 , pp. 394-395
    • Saraiva, J.M.1
  • 70
    • 0021946315 scopus 로고
    • Progressive diaphyseal dysplasia: Evaluation of corticosteroid therapy
    • Naveh Y. Alon U, Kaftori JK, Berant M 1985 Progressive diaphyseal dysplasia: Evaluation of corticosteroid therapy. Pediatrics 75:321-323.
    • (1985) Pediatrics , vol.75 , pp. 321-323
    • Naveh, Y.1    Alon, U.2    Kaftori, J.K.3    Berant, M.4
  • 71
    • 0034923941 scopus 로고    scopus 로고
    • Scintigraphic evaluation of Pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease)
    • Inaoka T, Shuke N, Sato J, Ishikawa Y, Takahashi K, Aburano T, Makita Y 2001 Scintigraphic evaluation of Pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease). Clin Nucl Med 26:680-682.
    • (2001) Clin Nucl Med , vol.26 , pp. 680-682
    • Inaoka, T.1    Shuke, N.2    Sato, J.3    Ishikawa, Y.4    Takahashi, K.5    Aburano, T.6    Makita, Y.7
  • 72
    • 84889325279 scopus 로고
    • Hyperostosis Corticalis Generalisata Familiaris (Van Buchem's Disease)
    • Excerpta, Amsterdam, The Netherlands
    • Van Büchern FSP, Prick JJG, Jaspar HHJ 1976 Hyperostosis Corticalis Generalisata Familiaris (Van Buchem's Disease). Excerpta, Amsterdam, The Netherlands.
    • (1976)
    • Van Büchern, F.S.P.1    Prick, J.J.G.2    Jaspar, H.H.J.3
  • 80
    • 0023916819 scopus 로고
    • Van Buchem disease: Surgical treatment of the mandible
    • Schendel SA 1988 van Buchem disease: Surgical treatment of the mandible. Ann Plast Surg 20:462-467.
    • (1988) Ann Plast Surg , vol.20 , pp. 462-467
    • Schendel, S.A.1
  • 81
  • 86
    • 0019813778 scopus 로고
    • Biochemical and ultrastructural demonstration of elastin accumulation in the skin of the BuschkeOllendorff syndrome
    • Uitto J, Santa Cruz DJ, Starcher BC, Whyte MP, Murphy WA 1981 Biochemical and ultrastructural demonstration of elastin accumulation in the skin of the BuschkeOllendorff syndrome. J Invest Dermatol 76:284-287.
    • (1981) J Invest Dermatol , vol.76 , pp. 284-287
    • Uitto, J.1    Santa Cruz, D.J.2    Starcher, B.C.3    Whyte, M.P.4    Murphy, W.A.5
  • 88
    • 0017903928 scopus 로고
    • 99m Tc-pyrophosphate bone imaging in osteopoikilosis, osteopathia striata, and melorheostosis
    • Whyte MP, Murphy WA, Seigel BA 1978 99m Tc-pyrophosphate bone imaging in osteopoikilosis, osteopathia striata, and melorheostosis. Radiology 127:439-143.
    • (1978) Radiology , vol.127 , pp. 439-143
    • Whyte, M.P.1    Murphy, W.A.2    Seigel, B.A.3
  • 89
    • 0021235575 scopus 로고
    • Syndrome of osteopathia striata, mac-rocephaly, and cranial sclerosis
    • Rabinow M, Unger F 1984 Syndrome of osteopathia striata, mac-rocephaly, and cranial sclerosis. Am J Dis Child 138:821-823.
    • (1984) Am J Dis Child , vol.138 , pp. 821-823
    • Rabinow, M.1    Unger, F.2
  • 90
    • 0017576174 scopus 로고
    • Striation of bones in focal dermal hypoplasia: Manifestation of functional mosaicism?
    • Happle R, Lenz W 1977 Striation of bones in focal dermal hypoplasia: Manifestation of functional mosaicism? Br J Dermatol 96:133-138.
    • (1977) Br J Dermatol , vol.96 , pp. 133-138
    • Happle, R.1    Lenz, W.2
  • 92
    • 0014343407 scopus 로고
    • Melorheostosis: A report of the clinical, roentgenographic, and pathological findings in fourteen cases
    • Campbell CJ, Papademetriou T, Bonfiglio M 1968 Melorheostosis: A report of the clinical, roentgenographic, and pathological findings in fourteen cases. J Bone Joint Surg Am 50:1281-1304.
    • (1968) J Bone Joint Surg Am , vol.50 , pp. 1281-1304
    • Campbell, C.J.1    Papademetriou, T.2    Bonfiglio, M.3
  • 93
    • 0000795647 scopus 로고
    • Une affection non decrite des os. Hyperostose "en coulee" sur toute la longueur d'un membre ou "melorheostose."
    • Leri A, Joanny J 1922 Une affection non decrite des os. Hyperostose "en coulee" sur toute la longueur d'un membre ou "melorheostose." Bull Mem Soc Med Hop Paris 46:1141-1145.
    • (1922) Bull Mem Soc Med Hop Paris , vol.46 , pp. 1141-1145
    • Leri, A.1    Joanny, J.2
  • 94
    • 0022637336 scopus 로고
    • Synchronous left subclavian and axillary artery aneurysms associated with melorheostosis
    • Applebaum RE, Caniano DA, Sun CC, Azizkhan RA, Queral LA 1986 Synchronous left subclavian and axillary artery aneurysms associated with melorheostosis. Surgery 99:249-253.
    • (1986) Surgery , vol.99 , pp. 249-253
    • Applebaum, R.E.1    Caniano, D.A.2    Sun, C.C.3    Azizkhan, R.A.4    Queral, L.A.5
  • 98
    • 33846492854 scopus 로고    scopus 로고
    • Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not melorheostosi
    • Mumm S, Zhang X, McAlister WH, Wenkert D, Whyte MP 2005 Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not melorheostosi. J Bone Miner Res 20:S1:S418.
    • (2005) J Bone Miner Res , vol.20 , Issue.S1
    • Mumm, S.1    Zhang, X.2    McAlister, W.H.3    Wenkert, D.4    Whyte, M.P.5
  • 99
    • 0026686303 scopus 로고
    • The Ilizarov apparatus for treatment of melorheostosis: Case report and review of the literature
    • Atar D, Lehman WB, Grant AD, Strongwater AM 1992 The Ilizarov apparatus for treatment of melorheostosis: Case report and review of the literature. Clin Orthop 281:163-167.
    • (1992) Clin Orthop , vol.281 , pp. 163-167
    • Atar, D.1    Lehman, W.B.2    Grant, A.D.3    Strongwater, A.M.4
  • 101
    • 0019825042 scopus 로고
    • Axial osteomalacia: Clinical, laboratory and genetic investigation of an affected mother and son
    • Whyte MP, Fallon MD, Murphy WA, Teitelbaum SL 1981 Axial osteomalacia: Clinical, laboratory and genetic investigation of an affected mother and son. Am J Med 71:1041-1049.
    • (1981) Am J Med , vol.71 , pp. 1041-1049
    • Whyte, M.P.1    Fallon, M.D.2    Murphy, W.A.3    Teitelbaum, S.L.4
  • 102
    • 0018230225 scopus 로고
    • Atypical axial osteomalacia: Report of four cases with two having features of ankylosing spondylitis
    • Nelson AM, Riggs BL. Jowsey JO 1978 Atypical axial osteomalacia: Report of four cases with two having features of ankylosing spondylitis. Arthritis Rheum 21:715-722.
    • (1978) Arthritis Rheum , vol.21 , pp. 715-722
    • Nelson, A.M.1    Riggs, B.L.2    Jowsey, J.O.3
  • 105
    • 0023037809 scopus 로고
    • Fibrogenesis imperfecta ossium with early onset: Observations after 20 years of illness
    • Lang R, Vignery AM, Jenson PS 1986 Fibrogenesis imperfecta ossium with early onset: Observations after 20 years of illness. Bone 7:237-246.
    • (1986) Bone , vol.7 , pp. 237-246
    • Lang, R.1    Vignery, A.M.2    Jenson, P.S.3
  • 106
    • 0024816673 scopus 로고
    • Ultrastructural features of the osteoid of patients with fibrogenesis imperfecta ossium
    • Ralphs JR, Stamp TCB, Dopping-Hepenstal PJC, Ali SY 1989 Ultrastructural features of the osteoid of patients with fibrogenesis imperfecta ossium. Bone 10:243-249.
    • (1989) Bone , vol.10 , pp. 243-249
    • Ralphs, J.R.1    Stamp, T.C.B.2    Dopping-Hepenstal, P.J.C.3    Ali, S.Y.4
  • 107
    • 0000037861 scopus 로고
    • Pachydermoperiostosis (idiopathic clubbing and pcriostosis). Genetic and physiologic considerations
    • Rimoin DL 1965 Pachydermoperiostosis (idiopathic clubbing and pcriostosis). Genetic and physiologic considerations. N Engl J Med 272:923-931.
    • (1965) N Engl J Med , vol.272 , pp. 923-931
    • Rimoin, D.L.1
  • 109
    • 0018899109 scopus 로고
    • Distribution of hypertrophic pulmonary osteoarthropathy
    • Ali A, Tetalman M, Fordham EW 1980 Distribution of hypertrophic pulmonary osteoarthropathy. AJR Am J Roentgenol 134:771-780.
    • (1980) AJR Am J Roentgenol , vol.134 , pp. 771-780
    • Ali, A.1    Tetalman, M.2    Fordham, E.W.3
  • 112
    • 0029877055 scopus 로고    scopus 로고
    • Doubling skeletal mass during adult life: The syndrome of diffuse osteosclerosis after intravenous drug abuse
    • Whyte MP, Teitelbaum SL, Reinus WR 1996 Doubling skeletal mass during adult life: The syndrome of diffuse osteosclerosis after intravenous drug abuse. J Bone Miner Res 11:554-558.
    • (1996) J Bone Miner Res , vol.11 , pp. 554-558
    • Whyte, M.P.1    Teitelbaum, S.L.2    Reinus, W.R.3
  • 113
    • 0036345441 scopus 로고    scopus 로고
    • Use of site-specific antibodies to characterize the circulating form of big insulin-like growth factor II in patients with hepatitis C-associated osteosclerosis
    • Khosla S, Ballard FJ, Conover CA 2002 Use of site-specific antibodies to characterize the circulating form of big insulin-like growth factor II in patients with hepatitis C-associated osteosclerosis. J Clin Endocrinol Metab 87:3867-3870.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 3867-3870
    • Khosla, S.1    Ballard, F.J.2    Conover, C.A.3
  • 115
    • 17644376821 scopus 로고    scopus 로고
    • Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation
    • Rickels MR, Zhang X, Mumm S, Whyte MP 2005 Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation. J Bone Miner Res 20:878-885.
    • (2005) J Bone Miner Res , vol.20 , pp. 878-885
    • Rickels, M.R.1    Zhang, X.2    Mumm, S.3    Whyte, M.P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.