-
1
-
-
0031855595
-
Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred
-
Ahmad M, Haque MF, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH. 1998. Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. Am J Med Genet 78:468-473.
-
(1998)
Am J Med Genet
, vol.78
, pp. 468-473
-
-
Ahmad, M.1
Haque, M.F.2
Ahmad, W.3
Abbas, H.4
Haque, S.5
Krakow, D.6
Rimoin, D.L.7
Lachman, R.S.8
Cohn, D.H.9
-
2
-
-
0020576703
-
Heterogeneity of metatropic dysplasia
-
Beck M, Roubicek M, Rogers JG, Naumoff P, Spranger J. 1983. Heterogeneity of metatropic dysplasia. Eur J Pediatr 140:231-237.
-
(1983)
Eur J Pediatr
, vol.140
, pp. 231-237
-
-
Beck, M.1
Roubicek, M.2
Rogers, J.G.3
Naumoff, P.4
Spranger, J.5
-
3
-
-
0037110974
-
International nosology and classification of constitutional disorders of bone (2001)
-
Hall CM. 2002. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 113:65-77.
-
(2002)
Am J Med Genet
, vol.113
, pp. 65-77
-
-
Hall, C.M.1
-
4
-
-
0031865667
-
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations
-
Hall CM, Elcioglu NH, Shaw DG. 1998. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. J Med Genet 35:566-572.
-
(1998)
J Med Genet
, vol.35
, pp. 566-572
-
-
Hall, C.M.1
Elcioglu, N.H.2
Shaw, D.G.3
-
5
-
-
0027978110
-
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
-
Hastbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A, et al. 1994. The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073-1087.
-
(1994)
Cell
, vol.78
, pp. 1073-1087
-
-
Hastbacka, J.1
De La Chapelle, A.2
Mahtani, M.M.3
Clines, G.4
Reeve-Daly, M.P.5
Daly, M.6
Hamilton, B.A.7
Kusumi, K.8
Trivedi, B.9
Weaver, A.10
-
6
-
-
0021086362
-
Brachyolmia, recessive type (Hobaek): A clinical, radiographic, and histochemical study
-
Horton WA, Langer LO, Collins DL, Dwyer C. 1983. Brachyolmia, recessive type (Hobaek): A clinical, radiographic, and histochemical study. Am J Med Genet 16:201-211.
-
(1983)
Am J Med Genet
, vol.16
, pp. 201-211
-
-
Horton, W.A.1
Langer, L.O.2
Collins, D.L.3
Dwyer, C.4
-
7
-
-
0042888668
-
Genetic disorders of the skeleton: A developmental approach
-
Kornak U, Mundlos S. 2003. Genetic disorders of the skeleton: A developmental approach. Am J Hum Genet 73:447-474.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 447-474
-
-
Kornak, U.1
Mundlos, S.2
-
8
-
-
0021634658
-
Radiographic features of spondyloepimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases
-
Kozlowski K, Beighton P. 1984. Radiographic features of spondyloepimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases. ROFO Fortschr Geb Rontgenstr Nuklearmed 141:337-341.
-
(1984)
ROFO Fortschr Geb Rontgenstr Nuklearmed
, vol.141
, pp. 337-341
-
-
Kozlowski, K.1
Beighton, P.2
-
9
-
-
0013875469
-
Der metatropische Zwergwuchs
-
Maroteaux P. 1966. Der metatropische Zwergwuchs. Arch Kinderheilk 173:211-226.
-
(1966)
Arch Kinderheilk
, vol.173
, pp. 211-226
-
-
Maroteaux, P.1
-
10
-
-
0031016969
-
Spondyloepimetaphyseal dysplasia and abnormal dentition in siblings: A new autosomal recessive syndrome
-
Rao V, Morton RE, Young ID. 1997. Spondyloepimetaphyseal dysplasia and abnormal dentition in siblings: A new autosomal recessive syndrome. Clin Dysmorphol 6:3-12.
-
(1997)
Clin Dysmorphol
, vol.6
, pp. 3-12
-
-
Rao, V.1
Morton, R.E.2
Young, I.D.3
-
11
-
-
0028270887
-
Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75→ cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings
-
Reginato AJ, Passano GM, Neumann G, Falasca GF, Diaz-Valdez M, Jimenez SA, Williams CJ. 1994. Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75→ cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings. Arthritis Rheum 37:1078-1086.
-
(1994)
Arthritis Rheum
, vol.37
, pp. 1078-1086
-
-
Reginato, A.J.1
Passano, G.M.2
Neumann, G.3
Falasca, G.F.4
Diaz-Valdez, M.5
Jimenez, S.A.6
Williams, C.J.7
-
12
-
-
0026045782
-
Brachyolmia: A skeletal dysplasia with an altered mucopolysaccharide excretion
-
Sewell AC, Wern C, Pontz BF. 1991. Brachyolmia: A skeletal dysplasia with an altered mucopolysaccharide excretion. Clin Genet 40:312-317.
-
(1991)
Clin Genet
, vol.40
, pp. 312-317
-
-
Sewell, A.C.1
Wern, C.2
Pontz, B.F.3
-
14
-
-
0027300399
-
New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin
-
Shohat M, Lachman R, Carmi R, Bar Ziv J, Rimoin D. 1993. New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin. Am J Med Genet 46:358-362.
-
(1993)
Am J Med Genet
, vol.46
, pp. 358-362
-
-
Shohat, M.1
Lachman, R.2
Carmi, R.3
Bar Ziv, J.4
Rimoin, D.5
-
15
-
-
0022293662
-
Pattern recognition in bone dysplasias
-
Spranger J. 1985. Pattern recognition in bone dysplasias. Prog Clin Biol Res 200:315-342.
-
(1985)
Prog Clin Biol Res
, vol.200
, pp. 315-342
-
-
Spranger, J.1
-
16
-
-
0028157152
-
The type II collagenopathies: A spectrum of chondrodysplasias
-
Spranger J, Winterpacht A, Zabel B. 1994. The type II collagenopathies: A spectrum of chondrodysplasias. Eur J Pediatr 153:56-65.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 56-65
-
-
Spranger, J.1
Winterpacht, A.2
Zabel, B.3
-
17
-
-
17344364658
-
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse
-
ul Haque MF, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH. 1998. Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. Nat Genet 20:157-162.
-
(1998)
Nat Genet
, vol.20
, pp. 157-162
-
-
Ul Haque, M.F.1
King, L.M.2
Krakow, D.3
Cantor, R.M.4
Rusiniak, M.E.5
Swank, R.T.6
Superti-Furga, A.7
Haque, S.8
Abbas, H.9
Ahmad, W.10
Ahmad, M.11
Cohn, D.H.12
|