-
1
-
-
0028270887
-
Familial spondyloepiphyseal dysplasia tarda brachydactyly and precocious osteoarthritis
-
Reginald AJ, Passano GM, Neumann G, Falasca GF, Diaz-Valedez M, Jimenez SA, Williams CJ (1994): Familial spondyloepiphyseal dysplasia tarda brachydactyly and precocious osteoarthritis. Arthritis Rheum 37:1078-1086.
-
(1994)
Arthritis Rheum
, vol.37
, pp. 1078-1086
-
-
Reginald, A.J.1
Passano, G.M.2
Neumann, G.3
Falasca, G.F.4
Diaz-Valedez, M.5
Jimenez, S.A.6
Williams, C.J.7
-
2
-
-
0025080927
-
Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen
-
Anderson IJ, Tsipouras P, Scher C, Ramesar RS, Martel W, Beighton P (1990): Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen. Am J Med Genet 37:272-276.
-
(1990)
Am J Med Genet
, vol.37
, pp. 272-276
-
-
Anderson, I.J.1
Tsipouras, P.2
Scher, C.3
Ramesar, R.S.4
Martel, W.5
Beighton, P.6
-
3
-
-
0021232852
-
Namaqualand hip dysplasia: A autosomal dominant entity
-
Beighton P, Christy G, Learmonth D III (1984): Namaqualand hip dysplasia: A autosomal dominant entity. Am J Med Genet 19:161-169.
-
(1984)
Am J Med Genet
, vol.19
, pp. 161-169
-
-
Beighton, P.1
Christy, G.2
Learmonth III, D.3
-
5
-
-
0027322096
-
Mesomelic dysplasia of the upper extremities with other abnormalities
-
Kozlowski K, Bacha B, Brachimi L, Massen R (1993): Mesomelic dysplasia of the upper extremities with other abnormalities. Pediatr Radiol 23: 108-110.
-
(1993)
Pediatr Radiol
, vol.23
, pp. 108-110
-
-
Kozlowski, K.1
Bacha, B.2
Brachimi, L.3
Massen, R.4
-
6
-
-
0027522004
-
Mesomelic limb shortness
-
Reardon W, Hall CM, Slaney S, Huson SM, Connell J, Al-Hilaly N, Fixsen J, Baraitser M, Winter RM (1993): Mesomelic limb shortness. Am J Med Genet 47:788-792.
-
(1993)
Am J Med Genet
, vol.47
, pp. 788-792
-
-
Reardon, W.1
Hall, C.M.2
Slaney, S.3
Huson, S.M.4
Connell, J.5
Al-Hilaly, N.6
Fixsen, J.7
Baraitser, M.8
Winter, R.M.9
-
8
-
-
0020357860
-
Melnick-Needles syndrome: Indication for an autosomal recessive form
-
ter Haar B, Hamel B, Hendriks J, de Jager J (1982): Melnick-Needles syndrome: Indication for an autosomal recessive form. Am J Med Genet 13:469-477.
-
(1982)
Am J Med Genet
, vol.13
, pp. 469-477
-
-
Ter Haar, B.1
Hamel, B.2
Hendriks, J.3
De Jager, J.4
-
9
-
-
0021876508
-
Osteogenesis imperfecta with unusual skeletal lesions: Report of three families
-
Levin LS, Wright JM, Byrd DL, Greenway G, Dorst JP, Irani RN, Pyeritz RE, Young RJ, Laspia CL (1995): Osteogenesis imperfecta with unusual skeletal lesions: Report of three families. Am J Med Genet 21: 257-269.
-
(1995)
Am J Med Genet
, vol.21
, pp. 257-269
-
-
Levin, L.S.1
Wright, J.M.2
Byrd, D.L.3
Greenway, G.4
Dorst, J.P.5
Irani, R.N.6
Pyeritz, R.E.7
Young, R.J.8
Laspia, C.L.9
-
10
-
-
0019825042
-
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
-
11
-
-
0017761432
-
Osteopathia striata revisited
-
Carlson DH (1977): Osteopathia striata revisited. J Can Assoc Radiol J 3:190-192.
-
(1977)
J Can Assoc Radiol J
, vol.3
, pp. 190-192
-
-
Carlson, D.H.1
-
12
-
-
0025783538
-
Mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata
-
Cantator FP, Carrozzo M, Loperfido MC (1991): Mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata. Rheumatology 10:191-195.
-
(1991)
Rheumatology
, vol.10
, pp. 191-195
-
-
Cantator, F.P.1
Carrozzo, M.2
Loperfido, M.C.3
-
14
-
-
0024395499
-
A new type of lethal short-limbed dwarfism
-
Nairn ER, Chapman S (1989): A new type of lethal short-limbed dwarfism. Pediatr Radiol 19:253-257.
-
(1989)
Pediatr Radiol
, vol.19
, pp. 253-257
-
-
Nairn, E.R.1
Chapman, S.2
-
15
-
-
0018890112
-
A bone dysplasia for diagnosis
-
Paris
-
Astley R, Kendall AC (1980): A bone dysplasia for diagnosis. Ann Radiol (Paris) 2:121-123.
-
(1980)
Ann Radiol
, vol.2
, pp. 121-123
-
-
Astley, R.1
Kendall, A.C.2
-
16
-
-
0025297108
-
Possible heterogeneity in spondyloenchondrodysplasia, quadriparesis, basal ganglia calcifications
-
Frydman M, Bar Ziv J, Preminger-Shapiro R, Brezner A, Brand N, BenAmi T, Lachman RS, Gruber HE, Rimoin DL (1990): Possible heterogeneity in spondyloenchondrodysplasia, quadriparesis, basal ganglia calcifications. Am J Med Genet 36:279-284.
-
(1990)
Am J Med Genet
, vol.36
, pp. 279-284
-
-
Frydman, M.1
Bar Ziv, J.2
Preminger-Shapiro, R.3
Brezner, A.4
Brand, N.5
Benami, T.6
Lachman, R.S.7
Gruber, H.E.8
Rimoin, D.L.9
-
18
-
-
0025840146
-
Essential osteolysis associated with nephropathy, corenal opacity and pulmonary stenosis
-
Shinohara O, Kubot C, Kimira C, Nishimura G, Takahashi S (1991): Essential osteolysis associated with nephropathy, corenal opacity and pulmonary stenosis. Am J Med Genet 41:482-486.
-
(1991)
Am J Med Genet
, vol.41
, pp. 482-486
-
-
Shinohara, O.1
Kubot, C.2
Kimira, C.3
Nishimura, G.4
Takahashi, S.5
-
19
-
-
0020618367
-
Familial vanishing limbs: Four generations of idiopathic multicentric osteolysis
-
Hemingway AP, Leung A, Lavender JP (1983): Familial vanishing limbs: Four generations of idiopathic multicentric osteolysis. Clin Radiol 5: 585-588.
-
(1983)
Clin Radiol
, vol.5
, pp. 585-588
-
-
Hemingway, A.P.1
Leung, A.2
Lavender, J.P.3
-
20
-
-
0018256744
-
Idiopathic multicentric osteolysis. Report of an affected father and son
-
Whyte MP, Murphy WA, Kleerekoper M, Teitelbaum SL, Avioli LV (1978): Idiopathic multicentric osteolysis. Report of an affected father and son. Arthritis Rheum 3:367-376.
-
(1978)
Arthritis Rheum
, vol.3
, pp. 367-376
-
-
Whyte, M.P.1
Murphy, W.A.2
Kleerekoper, M.3
Teitelbaum, S.L.4
Avioli, L.V.5
|