-
2
-
-
77953939261
-
The skeletal dysplasias
-
Krakow D., Rimoin D.L. The skeletal dysplasias. Genet Med 2010, 12:327-341.
-
(2010)
Genet Med
, vol.12
, pp. 327-341
-
-
Krakow, D.1
Rimoin, D.L.2
-
3
-
-
0025455386
-
Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update
-
Mulvihill J.J., Parry D.M., Sherman D.L., et al. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update. Ann Intern Med 1990, 113:39-52.
-
(1990)
Ann Intern Med
, vol.113
, pp. 39-52
-
-
Mulvihill, J.J.1
Parry, D.M.2
Sherman, D.L.3
-
4
-
-
0022658223
-
Osseous manifestations of neurofibromatosis in childhood
-
Crawford A.H., Bagamery N. Osseous manifestations of neurofibromatosis in childhood. J Pediatr Orthop 1986, 6:72-88.
-
(1986)
J Pediatr Orthop
, vol.6
, pp. 72-88
-
-
Crawford, A.H.1
Bagamery, N.2
-
5
-
-
0018777889
-
Spine deformity in neurofibromatosis. A review of one hundred and two patients
-
Winter R.B., Moe J.H., Bradford D.S., et al. Spine deformity in neurofibromatosis. A review of one hundred and two patients. J Bone Joint Surg 1979, 61-A:677-694.
-
(1979)
J Bone Joint Surg
, pp. 677-694
-
-
Winter, R.B.1
Moe, J.H.2
Bradford, D.S.3
-
6
-
-
0017569818
-
Congenital pseudarthrosis of long bones. A clinical, radiographic, histologic and ultrastructural study
-
Brown G.A., Osebold W.R., Ponseti I.V. Congenital pseudarthrosis of long bones. A clinical, radiographic, histologic and ultrastructural study. Clin Orthop 1977, 228:228-242.
-
(1977)
Clin Orthop
, vol.228
, pp. 228-242
-
-
Brown, G.A.1
Osebold, W.R.2
Ponseti, I.V.3
-
7
-
-
0015578849
-
Ultrastructure of congenital pseudarthrosis of the tibia
-
Briner J., Yunis E. Ultrastructure of congenital pseudarthrosis of the tibia. Arch Pathol 1973, 95:97-99.
-
(1973)
Arch Pathol
, vol.95
, pp. 97-99
-
-
Briner, J.1
Yunis, E.2
-
8
-
-
0014914366
-
Bone changes in chronic adult Gaucher's disease
-
Greenfield G.B. Bone changes in chronic adult Gaucher's disease. Am J Roentgenol Radium Ther Nucl Med 1970, 110:800-807.
-
(1970)
Am J Roentgenol Radium Ther Nucl Med
, vol.110
, pp. 800-807
-
-
Greenfield, G.B.1
-
9
-
-
0018243182
-
The orthopaedic aspects of Gaucher disease
-
Goldblatt J., Sachs S., Beighton P. The orthopaedic aspects of Gaucher disease. Clin Orthop 1978, 137:208-214.
-
(1978)
Clin Orthop
, vol.137
, pp. 208-214
-
-
Goldblatt, J.1
Sachs, S.2
Beighton, P.3
-
10
-
-
0025273360
-
Skeletal complications of type I Gaucher disease: the magnetic resonance features
-
Cremin B.J., Davey H., Goldblatt J. Skeletal complications of type I Gaucher disease: the magnetic resonance features. Clin Radiol 1990, 41:244-247.
-
(1990)
Clin Radiol
, vol.41
, pp. 244-247
-
-
Cremin, B.J.1
Davey, H.2
Goldblatt, J.3
-
11
-
-
0027279191
-
MR imaging in adults with Gaucher disease type I: evaluation of marrow involvement and disease activity
-
Hermann G., Shapiro R.S., Abdelwahab I.F., et al. MR imaging in adults with Gaucher disease type I: evaluation of marrow involvement and disease activity. Skeletal Radiol 1993, 22:247-251.
-
(1993)
Skeletal Radiol
, vol.22
, pp. 247-251
-
-
Hermann, G.1
Shapiro, R.S.2
Abdelwahab, I.F.3
-
12
-
-
0000345880
-
Biochemical, pathologic and clinical aspects of alkaptonuria, ochronosis and ochronotic arthropathy: review of world literature (1584-1962)
-
O'Brien W.M., La Du B.N., Bunim J.J. Biochemical, pathologic and clinical aspects of alkaptonuria, ochronosis and ochronotic arthropathy: review of world literature (1584-1962). Am J Med 1963, 34:813-838.
-
(1963)
Am J Med
, vol.34
, pp. 813-838
-
-
O'Brien, W.M.1
La Du, B.N.2
Bunim, J.J.3
-
13
-
-
0344480747
-
Clinical aspects of ochronosis, with report of a case
-
Coodley E.L., Greco A.J. Clinical aspects of ochronosis, with report of a case. Am Med 1950, 8:816-822.
-
(1950)
Am Med
, vol.8
, pp. 816-822
-
-
Coodley, E.L.1
Greco, A.J.2
-
14
-
-
0014872453
-
Ochronotic arthropathy. A review with four case reports
-
Laskar F.H., Sargison K.D. Ochronotic arthropathy. A review with four case reports. J Bone Joint Surg 1970, 52-B:653-666.
-
(1970)
J Bone Joint Surg
, pp. 653-666
-
-
Laskar, F.H.1
Sargison, K.D.2
-
16
-
-
0021356992
-
Radiologic manifestations in alkaptonuria
-
Justesen P., Andersen P.E. Radiologic manifestations in alkaptonuria. Skeletal Radiol 1984, 11:204-208.
-
(1984)
Skeletal Radiol
, vol.11
, pp. 204-208
-
-
Justesen, P.1
Andersen, P.E.2
-
17
-
-
0016935966
-
Multiple vacuum discs, and early sign of ochronosis: radiologic findings in two brothers
-
Deeb Z., Frayha R.A. Multiple vacuum discs, and early sign of ochronosis: radiologic findings in two brothers. J Rheumatol 1976, 3:82-87.
-
(1976)
J Rheumatol
, vol.3
, pp. 82-87
-
-
Deeb, Z.1
Frayha, R.A.2
-
18
-
-
0024508107
-
The pathology of alkaptonuric ochronosis
-
Gaines J.J. The pathology of alkaptonuric ochronosis. Hum Pathol 1989, 20:40-46.
-
(1989)
Hum Pathol
, vol.20
, pp. 40-46
-
-
Gaines, J.J.1
-
19
-
-
0023900702
-
Rapidly progressive osteoarthrosis of ochronotic origin. A pathologic study
-
Lagier R., Baud C.A., Lacotte D., et al. Rapidly progressive osteoarthrosis of ochronotic origin. A pathologic study. Am J Clin Pathol 1988, 90:95-102.
-
(1988)
Am J Clin Pathol
, vol.90
, pp. 95-102
-
-
Lagier, R.1
Baud, C.A.2
Lacotte, D.3
-
20
-
-
0021856744
-
The prevalence of skeletal dysplasias: an estimate of their minimum frequency and the number of patients requiring orthopaedic care
-
Wynne-Davies R., Gormley J. The prevalence of skeletal dysplasias: an estimate of their minimum frequency and the number of patients requiring orthopaedic care. J Bone Joint Surg 1985, 67-B:133-137.
-
(1985)
J Bone Joint Surg
, pp. 133-137
-
-
Wynne-Davies, R.1
Gormley, J.2
-
21
-
-
0017257170
-
Orthopaedic complications of dwarfism
-
Kopits S.E. Orthopaedic complications of dwarfism. Clin Orthop 1976, 114:153-179.
-
(1976)
Clin Orthop
, vol.114
, pp. 153-179
-
-
Kopits, S.E.1
-
22
-
-
33845971924
-
Nosology and Classification of Genetic Skeletal Disorders: 2006 Revision
-
Superti-Furga A., Unger S. Nosology and Classification of Genetic Skeletal Disorders: 2006 Revision. Am J Med Genet A 2007, 143:1-18.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 1-18
-
-
Superti-Furga, A.1
Unger, S.2
-
23
-
-
36549047040
-
The skeletal dysplasias: clinical-molecular correlations
-
Rimoin D.L., Cohn D., Krakow D., et al. The skeletal dysplasias: clinical-molecular correlations. Ann N Y Acad Sci 2007, 1117:302-309.
-
(2007)
Ann N Y Acad Sci
, vol.1117
, pp. 302-309
-
-
Rimoin, D.L.1
Cohn, D.2
Krakow, D.3
-
24
-
-
0008151332
-
Osteogenesis imperfecta as a consequence of naturally occurring and induced mutations of type I collagen bone mineral
-
Elsevier Science, Amsterdam, J.K.J. Heersche (Ed.)
-
Cole W.G. Osteogenesis imperfecta as a consequence of naturally occurring and induced mutations of type I collagen bone mineral. Bone and Mineral Research 1994, 67-204. Elsevier Science, Amsterdam. J.K.J. Heersche (Ed.).
-
(1994)
Bone and Mineral Research
, pp. 67-204
-
-
Cole, W.G.1
-
25
-
-
0000181425
-
Zur Erkenntniss der Osteogenesis imperfecta congenita und tarda (sogenannte idiopathische Osteopsathyrosis)
-
Looser E. Zur Erkenntniss der Osteogenesis imperfecta congenita und tarda (sogenannte idiopathische Osteopsathyrosis). Mitt Grenzgeb Med Chir 1906, 15:161-207.
-
(1906)
Mitt Grenzgeb Med Chir
, vol.15
, pp. 161-207
-
-
Looser, E.1
-
26
-
-
0018416379
-
Genetic heterogeneity in osteogenesis imperfecta
-
Sillence D.O., Senn A.S., Danko D.M. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979, 16:101-116.
-
(1979)
J Med Genet
, vol.16
, pp. 101-116
-
-
Sillence, D.O.1
Senn, A.S.2
Danko, D.M.3
-
27
-
-
0019358248
-
Osteogenesis imperfecta: an expanding panorama of variants
-
Sillence D. Osteogenesis imperfecta: an expanding panorama of variants. Clin Orthop 1981, 159:11-25.
-
(1981)
Clin Orthop
, vol.159
, pp. 11-25
-
-
Sillence, D.1
-
28
-
-
69549096354
-
Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition
-
Basel D., Steiner R.D. Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. Genet Med 2009, 11:375-385.
-
(2009)
Genet Med
, vol.11
, pp. 375-385
-
-
Basel, D.1
Steiner, R.D.2
-
29
-
-
0031044232
-
Bone histomorphometry in adults with type IA osteogenesis imperfecta
-
McCarthy E.F., Earnest K., Rossiter K., et al. Bone histomorphometry in adults with type IA osteogenesis imperfecta. Clin Orthop 1997, 336:254-262.
-
(1997)
Clin Orthop
, vol.336
, pp. 254-262
-
-
McCarthy, E.F.1
Earnest, K.2
Rossiter, K.3
-
30
-
-
0019358783
-
The morbid anatomy of the skeleton in osteogenesis imperfecta
-
Bullough P.G., Davidson D., Lorenzo J.C. The morbid anatomy of the skeleton in osteogenesis imperfecta. Clin Orthop 1981, 159:42-57.
-
(1981)
Clin Orthop
, vol.159
, pp. 42-57
-
-
Bullough, P.G.1
Davidson, D.2
Lorenzo, J.C.3
-
31
-
-
0015605960
-
Osteogenesis imperfecta: a histopathological case report
-
Milgram J.W., Flick M.R., Engh C.A. Osteogenesis imperfecta: a histopathological case report. J Bone Joint Surg 1973, 55-A:506-515.
-
(1973)
J Bone Joint Surg
, pp. 506-515
-
-
Milgram, J.W.1
Flick, M.R.2
Engh, C.A.3
-
32
-
-
0025949273
-
Sclerosing bone dysplasias-a target-site approach
-
Greenspan A. Sclerosing bone dysplasias-a target-site approach. Skeletal Radiol 1991, 20:561-583.
-
(1991)
Skeletal Radiol
, vol.20
, pp. 561-583
-
-
Greenspan, A.1
-
33
-
-
0028877380
-
The heterogeneity of the osteopetroses reflects the diversity of cellular influences during skeletal development
-
Popoff S.N., Marks S.C.J. The heterogeneity of the osteopetroses reflects the diversity of cellular influences during skeletal development. Bone 1995, 17:437-445.
-
(1995)
Bone
, vol.17
, pp. 437-445
-
-
Popoff, S.N.1
Marks, S.C.J.2
-
34
-
-
0030587809
-
Mysterious cross talk between bone cells
-
1697-1678
-
Lian J.B. Mysterious cross talk between bone cells. J Clin Invest 1996, 98. 1697-1678.
-
(1996)
J Clin Invest
, vol.98
-
-
Lian, J.B.1
-
35
-
-
0016811449
-
Bone resorption restored in osteopetrotic mice by transplants of normal bone marrow and spleen cells
-
Walker D.G. Bone resorption restored in osteopetrotic mice by transplants of normal bone marrow and spleen cells. Science 1975, 190:784-785.
-
(1975)
Science
, vol.190
, pp. 784-785
-
-
Walker, D.G.1
-
36
-
-
0026023289
-
Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice
-
Soriano P.C., Montgomery C., Geske R. Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice. Cell 1991, 64:693-702.
-
(1991)
Cell
, vol.64
, pp. 693-702
-
-
Soriano, P.C.1
Montgomery, C.2
Geske, R.3
-
37
-
-
0028173214
-
C-Fos: a key regulator of osteoclast-macrophage lineage determination and bone remodeling
-
Grigoriadis A.E., Wang A.-Q., Cecchini W., et al. C-Fos: a key regulator of osteoclast-macrophage lineage determination and bone remodeling. Science 1994, 266:443-448.
-
(1994)
Science
, vol.266
, pp. 443-448
-
-
Grigoriadis, A.E.1
Wang, A.-Q.2
Cecchini, W.3
-
38
-
-
0029910732
-
Demonstration of an osteoblast defect in two cases of human malignant osteopetrosis. Correction of the phenotype after bone marrow transplant
-
Lajeunesse D., Busque L., Menard P. Demonstration of an osteoblast defect in two cases of human malignant osteopetrosis. Correction of the phenotype after bone marrow transplant. J Clin Invest 1996, 98:1835-1842.
-
(1996)
J Clin Invest
, vol.98
, pp. 1835-1842
-
-
Lajeunesse, D.1
Busque, L.2
Menard, P.3
-
39
-
-
0025344920
-
Retroviral expression in mononuclear blood cells isolated from a patient with osteopetrosis (Albers-Schonberg disease)
-
Labat M.L. Retroviral expression in mononuclear blood cells isolated from a patient with osteopetrosis (Albers-Schonberg disease). J Bone Miner Res 1990, 5:425-435.
-
(1990)
J Bone Miner Res
, vol.5
, pp. 425-435
-
-
Labat, M.L.1
-
40
-
-
0018902184
-
Human osteopetrosis: a histological, ultrastructural, and biochemical study
-
Shapiro F., Glimcher M.J., Holtrop M.E., et al. Human osteopetrosis: a histological, ultrastructural, and biochemical study. J Bone Joint Surg 1980, 62-A:384-399.
-
(1980)
J Bone Joint Surg
, pp. 384-399
-
-
Shapiro, F.1
Glimcher, M.J.2
Holtrop, M.E.3
-
42
-
-
0000042346
-
Eine bisher nicht beschriebene Allgemeinerkrankung skelettes im Rontgenbild
-
Albers-Schonberg H. Eine bisher nicht beschriebene Allgemeinerkrankung skelettes im Rontgenbild. Forschr Geb Rontgenstr 1907, 11:261.
-
(1907)
Forschr Geb Rontgenstr
, vol.11
, pp. 261
-
-
Albers-Schonberg, H.1
-
43
-
-
0027429167
-
Benign osteopetrosis: a review of 42 cases showing two different patterns
-
El-Tawil T., Stoker D.J. Benign osteopetrosis: a review of 42 cases showing two different patterns. Skeletal Radiol 1993, 22:587-593.
-
(1993)
Skeletal Radiol
, vol.22
, pp. 587-593
-
-
El-Tawil, T.1
Stoker, D.J.2
-
44
-
-
0014265074
-
Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form
-
Johnston C.C., Lavy N., Lord T., et al. Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form. Medicine 1968, 47:149.
-
(1968)
Medicine
, vol.47
, pp. 149
-
-
Johnston, C.C.1
Lavy, N.2
Lord, T.3
-
45
-
-
12244256407
-
Malignant congenital osteopetrosis resulting from a consanguineous marriage
-
Tips R.L., Lynch H.T. Malignant congenital osteopetrosis resulting from a consanguineous marriage. Acta Paediatr 1962, 51:585-588.
-
(1962)
Acta Paediatr
, vol.51
, pp. 585-588
-
-
Tips, R.L.1
Lynch, H.T.2
-
46
-
-
0022577720
-
Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification
-
Ohlsson A. Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. Pediatrics 1986, 77:371-381.
-
(1986)
Pediatrics
, vol.77
, pp. 371-381
-
-
Ohlsson, A.1
-
47
-
-
0021354507
-
Osteopoikilosis: a radiological and pathological study
-
Lagier R., Mbakop A., Bigler A. Osteopoikilosis: a radiological and pathological study. Skeletal Radiol 1984, 11:161.
-
(1984)
Skeletal Radiol
, vol.11
, pp. 161
-
-
Lagier, R.1
Mbakop, A.2
Bigler, A.3
-
48
-
-
0027964261
-
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
-
Shiang R., Thompson L.M., Zhu Y.-Z., et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994, 78:335-342.
-
(1994)
Cell
, vol.78
, pp. 335-342
-
-
Shiang, R.1
Thompson, L.M.2
Zhu, Y.-Z.3
-
49
-
-
77955228906
-
Achondroplasia: pathogenesis and implications for future treatment
-
Laederich M.B., Horton W.A. Achondroplasia: pathogenesis and implications for future treatment. Curr Opin Pediatr 2010, 22:516-523.
-
(2010)
Curr Opin Pediatr
, vol.22
, pp. 516-523
-
-
Laederich, M.B.1
Horton, W.A.2
-
50
-
-
0014866015
-
Endochondral ossification in achondroplastic dwarfism
-
Rimoin D.L., Hughes G.N., Kaufman R.L., et al. Endochondral ossification in achondroplastic dwarfism. N Engl J Med 1970, 283:728-736.
-
(1970)
N Engl J Med
, vol.283
, pp. 728-736
-
-
Rimoin, D.L.1
Hughes, G.N.2
Kaufman, R.L.3
-
51
-
-
0014864649
-
Orthopaedic aspects of achondroplasia
-
Bailey J.A. Orthopaedic aspects of achondroplasia. J Bone Joint Surg 1970, 52-A:1285-1301.
-
(1970)
J Bone Joint Surg
, pp. 1285-1301
-
-
Bailey, J.A.1
|