-
1
-
-
0037219859
-
Review: Clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia
-
Chapman KL, Briggs MD, Mortier GR. Review: Clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia. Pediatr Pathol Mol Med 2003; 22 (1): 53-75
-
(2003)
Pediatr Pathol Mol Med
, vol.22
, Issue.1
, pp. 53-75
-
-
Chapman, K.L.1
Briggs, M.D.2
Mortier, G.R.3
-
2
-
-
0034762339
-
A mutation in col9a1 causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity
-
Czarny-Ratajczak M, Lohiniva J, Rogala P, et al. A mutation in COL9A1 causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity. Am J Hum Genet 2001; 69(5): 969-980
-
(2001)
Am J Hum Genet
, vol.69
, Issue.5
, pp. 969-980
-
-
Czarny-Ratajczak, M.1
Lohiniva, J.2
Rogala, P.3
-
3
-
-
84873757305
-
Dysplasia epiphysialis multiplex
-
Fairbank T: Dysplasia epiphysialis multiplex. Br J Surg 1947; 34(135): 225-232
-
(1947)
Br J Surg
, vol.34
, Issue.135
, pp. 225-232
-
-
Fairbank, T.1
-
4
-
-
0037238318
-
Recessive multiple epiphyseal dysplasia (rmed): Phenotype delineation in eighteen homozygotes for dtdst mutation r279w
-
Ballhausen D, Bonafé L, Terhal P, et al. Recessive multiple epiphyseal dysplasia (rMED): Phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet 2003; 40(1): 65-71
-
(2003)
J Med Genet
, vol.40
, Issue.1
, pp. 65-71
-
-
Ballhausen, D.1
Bonafé, L.2
Terhal, P.3
-
5
-
-
0034933884
-
Mutations in the region encoding the von willebrand factor a domain of matrilin-3 are associated with multiple epiphyseal dysplasia
-
Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Nat Genet 2001; 28(4): 393-396
-
(2001)
Nat Genet
, vol.28
, Issue.4
, pp. 393-396
-
-
Chapman, K.L.1
Mortier, G.R.2
Chapman, K.3
Loughlin, J.4
Grant, M.E.5
Briggs, M.D.6
-
6
-
-
0029070079
-
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
-
Briggs MD, Hoffman SM, King LM, et al. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet 1995; 10(3): 330-336
-
(1995)
Nat Genet
, vol.10
, Issue.3
, pp. 330-336
-
-
Briggs, M.D.1
Hoffman, S.M.2
King, L.M.3
-
7
-
-
0026527303
-
Early diagnosis of multiple epiphyseal dysplasia
-
Ingram RR. Early diagnosis of multiple epiphyseal dysplasia. J Pediatr Orthop 1992; 12(2): 241-244
-
(1992)
J Pediatr Orthop
, vol.12
, Issue.2
, pp. 241-244
-
-
Ingram, R.R.1
-
8
-
-
0026026096
-
The shoulder in multiple epiphyseal dysplasia
-
Ingram RR. The shoulder in multiple epiphyseal dysplasia. J Bone Joint Surg Br 1991; 73(2): 277-279
-
(1991)
J Bone Joint Surg Br
, vol.73
, Issue.2
, pp. 277-279
-
-
Ingram, R.R.1
-
9
-
-
0025009244
-
Development of the hip in multiple epiphyseal dysplasia: Natural history and susceptibility to premature osteoarthritis
-
Treble NJ, Jensen FO, Bankier A, Rogers JG, Cole WG. Development of the hip in multiple epiphyseal dysplasia: Natural history and susceptibility to premature osteoarthritis. J Bone Joint Surg Br 1990; 72(6): 1061-1064
-
(1990)
J Bone Joint Surg Br
, vol.72
, Issue.6
, pp. 1061-1064
-
-
Treble, N.J.1
Jensen, F.O.2
Bankier, A.3
Rogers, J.G.4
Cole, W.G.5
-
10
-
-
40149098062
-
Multiple epiphyseal dysplasia: Clinical and radiographic features, differential diagnosis and molecular basis
-
Unger S, Bonafé L, Superti-Furga A: Multiple epiphyseal dysplasia: Clinical and radiographic features, differential diagnosis and molecular basis. Best Pract Res Clin Rheumatol 2008; 22(1): 19-32
-
(2008)
Best Pract Res Clin Rheumatol
, vol.22
, Issue.1
, pp. 19-32
-
-
Unger, S.1
Bonafé, L.2
Superti-Furga, A.3
-
11
-
-
0036238236
-
Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations
-
Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat 2002; 19(5): 465-478
-
(2002)
Hum Mutat
, vol.19
, Issue.5
, pp. 465-478
-
-
Briggs, M.D.1
Chapman, K.L.2
-
12
-
-
72549110681
-
Multiple epiphyseal dysplasia
-
Dahlqvist J, Orlén H, Matsson H, Dahl N, Lönnerholm T, Gustavson KH. Multiple epiphyseal dysplasia. Acta Orthop 2009; 80 (6): 711-715
-
(2009)
Acta Orthop
, vol.80
, Issue.6
, pp. 711-715
-
-
Dahlqvist, J.1
Orlén, H.2
Matsson, H.3
Dahl, N.4
Lönnerholm, T.5
Gustavson, K.H.6
-
13
-
-
80054889208
-
Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the comp and matn3 genes
-
Kim OH, Park H, Seong MW, et al. Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. Am J Med Genet A 2011; 155A(11): 2669-2680
-
(2011)
Am J Med Genet A
, Issue.11
, pp. 2669-2680
-
-
Kim, O.H.1
Park, H.2
Seong, M.W.3
-
14
-
-
84857688692
-
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
-
Jackson GC, Mittaz-Crettol L, Taylor JA, et al. Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat 2012; 33(1): 144-157
-
(2012)
Hum Mutat
, vol.33
, Issue.1
, pp. 144-157
-
-
Jackson, G.C.1
Mittaz-Crettol, L.2
Taylor, J.A.3
-
15
-
-
84895340234
-
-
in Pagon RA, Bird TD, Dolan CR, et al, eds: GeneReviews. Seattle, WA, University of Washington, Seattle. Updated July 25, 2013. Accessed November 25 2015
-
Briggs MD, Wright MJ, Mortier GR. Multiple epiphyseal dysplasia, dominant, in Pagon RA, Bird TD, Dolan CR, et al, eds: GeneReviews. Seattle, WA, University of Washington, Seattle. http://www.ncbi.nlm. nih.gov/books/NBK1123/. Updated July 25, 2013. Accessed November 25, 2015
-
Multiple Epiphyseal Dysplasia, Dominant
-
-
Briggs, M.D.1
Wright, M.J.2
Mortier, G.R.3
-
16
-
-
84923587823
-
-
in Pagon RA, Bird TD, Dolan CR, et al, eds: GeneReviews. Seattle, WA, University of Washington, Seattle. Updated January 23, 2014. Accessed November 25 2014
-
Bonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A: Multiple epiphyseal dysplasia, recessive, in Pagon RA, Bird TD, Dolan CR, et al, eds: GeneReviews. Seattle, WA, University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK1306/. Updated January 23, 2014. Accessed November 25, 2014
-
Multiple Epiphyseal Dysplasia, Recessive
-
-
Bonafé, L.1
Mittaz-Crettol, L.2
Ballhausen, D.3
Superti-Furga, A.4
-
17
-
-
10744231138
-
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by matn3 mutations: Description of 12 patients
-
Mäkitie O, Mortier GR, Czarny-Ratajczak M, et al. Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients. Am J Med Genet A 2004; 125A(3): 278-284
-
(2004)
Am J Med Genet A
, Issue.3
, pp. 278-284
-
-
Mäkitie, O.1
Mortier, G.R.2
Czarny-Ratajczak, M.3
-
18
-
-
19144373305
-
Multiple epiphyseal dysplasia in children beware of overtreatment
-
Bajuifer S, Letts M: Multiple epiphyseal dysplasia in children: Beware of overtreatment! Can J Surg 2005; 48(2): 106-109
-
(2005)
Can J Surg
, vol.48
, Issue.2
, pp. 106-109
-
-
Bajuifer, S.1
Letts, M.2
-
19
-
-
84871533973
-
Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia
-
Akhmedov B, Sung KH, Chung CY, Lee KM, Park MS. Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia. Clin Orthop Relat Res 2012; 470(12): 3566-3576
-
(2012)
Clin Orthop Relat Res
, vol.470
, Issue.12
, pp. 3566-3576
-
-
Akhmedov, B.1
Sung, K.H.2
Chung, C.Y.3
Lee, K.M.4
Park, M.S.5
-
20
-
-
0033752733
-
Clinical features of multiple epiphyseal dysplasia expressed in the knee
-
Miura H, Noguchi Y, Mitsuyasu H, et al. Clinical features of multiple epiphyseal dysplasia expressed in the knee. Clin Orthop Relat Res 2000; 380: 184-190
-
(2000)
Clin Orthop Relat Res
, vol.380
, pp. 184-190
-
-
Miura, H.1
Noguchi, Y.2
Mitsuyasu, H.3
-
21
-
-
57649109623
-
Modular cementless total hip arthroplasty for multiple epiphyseal dysplasia
-
Lim SJ, Park YS, Moon YW, Jung SM, Ha HC, Seo JG. Modular cementless total hip arthroplasty for multiple epiphyseal dysplasia. J Arthroplasty 2009; 24(1): 77-82
-
(2009)
J Arthroplasty
, vol.24
, Issue.1
, pp. 77-82
-
-
Lim, S.J.1
Park, Y.S.2
Moon, Y.W.3
Jung, S.M.4
Ha, H.C.5
Seo, J.G.6
-
22
-
-
0039405644
-
Double patellae in multiple epiphysial dysplasia
-
Hodkinson HM. Double patellae in multiple epiphysial dysplasia. J Bone Joint Surg Br 1962; 44: 569-572
-
(1962)
J Bone Joint Surg Br
, vol.44
, pp. 569-572
-
-
Hodkinson, H.M.1
-
23
-
-
0035066788
-
Magnetic resonance imaging of multiple epiphyseal dysplasia (type 2) of the knee
-
van Mourik JB, Weerdenburg JP, Verhaar JA. Magnetic resonance imaging of multiple epiphyseal dysplasia (type 2) of the knee. Radiography 2001; 7: 61-64
-
(2001)
Radiography
, vol.7
, pp. 61-64
-
-
Van Mourik, J.B.1
Weerdenburg, J.P.2
Verhaar, J.A.3
-
24
-
-
84923587641
-
-
Accessed December 15 2014
-
GeneTests. https://www.genetests.org/tests. Accessed December 15, 2014
-
GeneTests
-
-
-
25
-
-
12344335605
-
Med comp multilayered and nein: An overview of multiple epiphyseal dysplasia
-
Lachman RS, Krakow D, Cohn DH, Rimoin DL. MED, COMP, multilayered and NEIN: An overview of multiple epiphyseal dysplasia. Pediatr Radiol 2005; 35(2): 116-123
-
(2005)
Pediatr Radiol
, vol.35
, Issue.2
, pp. 116-123
-
-
Lachman, R.S.1
Krakow, D.2
Cohn, D.H.3
Rimoin, D.L.4
-
26
-
-
0035144508
-
Multiple epiphyseal dysplasia: Radiographic abnormalities correlated with genotype
-
Unger SL, Briggs MD, Holden P, et al. Multiple epiphyseal dysplasia: Radiographic abnormalities correlated with genotype. Pediatr Radiol 2001; 31(1): 10-18
-
(2001)
Pediatr Radiol
, vol.31
, Issue.1
, pp. 10-18
-
-
Unger, S.L.1
Briggs, M.D.2
Holden, P.3
-
27
-
-
12944257302
-
Double-layered patella in multiple epiphyseal dysplasia is not exclusive to dtdst mutation
-
Nakashima E, Ikegawa S, Ohashi H, Kimizuka M, Nishimura G: Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. Am J Med Genet A 2005; 133A(1): 106-107
-
(2005)
Am J Med Genet A
, Issue.1
, pp. 106-107
-
-
Nakashima, E.1
Ikegawa, S.2
Ohashi, H.3
Kimizuka, M.4
Nishimura, G.5
-
28
-
-
0025282846
-
Spondyloepiphyseal dysplasia congenita: Genetic linkage to type ii collagen (col2ai
-
Anderson IJ, Goldberg RB, Marion RW, Upholt WB, Tsipouras P: Spondyloepiphyseal dysplasia congenita: Genetic linkage to type II collagen (COL2AI). Am J Hum Genet 1990; 46(5): 896-901
-
(1990)
Am J Hum Genet
, vol.46
, Issue.5
, pp. 896-901
-
-
Anderson, I.J.1
Goldberg, R.B.2
Marion, R.W.3
Upholt, W.B.4
Tsipouras, P.5
-
29
-
-
0036162729
-
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments
-
Unger S, Hecht JT. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. Am J Med Genet 2001; 106(4): 244-250
-
(2001)
Am J Med Genet
, vol.106
, Issue.4
, pp. 244-250
-
-
Unger, S.1
Hecht, J.T.2
-
30
-
-
0036295072
-
Bilateral legg-calvé-perthes disease: Presentation and outcome
-
Guille JT, Lipton GE, Tsirikos AI, Bowen JR. Bilateral Legg-Calvé-Perthes disease: Presentation and outcome. J Pediatr Orthop 2002; 22(4): 458-463
-
(2002)
J Pediatr Orthop
, vol.22
, Issue.4
, pp. 458-463
-
-
Guille, J.T.1
Lipton, G.E.2
Tsirikos, A.I.3
Bowen, J.R.4
-
31
-
-
80051782480
-
Spectrum of intra-Articular findings of the acute and subacute painful hip with multiple epiphyseal dysplasia/spondyloepiphyseal dysplasia
-
Roy DR. Spectrum of intra-Articular findings of the acute and subacute painful hip with multiple epiphyseal dysplasia/spondyloepiphyseal dysplasia. J Pediatr Orthop B 2011; 20(5): 284-286
-
(2011)
J Pediatr Orthop B
, vol.20
, Issue.5
, pp. 284-286
-
-
Roy, D.R.1
-
32
-
-
60549113325
-
Hemiepiphyseal stapling for angular deformity correction around the knee joint in children with multiple epiphyseal dysplasia
-
Cho TJ, Choi IH, Chung CY, Yoo WJ, Park MS, Lee DY. Hemiepiphyseal stapling for angular deformity correction around the knee joint in children with multiple epiphyseal dysplasia. J Pediatr Orthop 2009; 29(1): 52-56
-
(2009)
J Pediatr Orthop
, vol.29
, Issue.1
, pp. 52-56
-
-
Cho, T.J.1
Choi, I.H.2
Chung, C.Y.3
Yoo, W.J.4
Park, M.S.5
Lee, D.Y.6
-
33
-
-
0032430940
-
The orthopaedic aspects of multiple epiphyseal dysplasia
-
Sebik A, Sebik F, Kutluay E, Kuyurtar F, Ademóglu Y: The orthopaedic aspects of multiple epiphyseal dysplasia. Int Orthop 1998; 22(6): 417-421
-
(1998)
Int Orthop
, vol.22
, Issue.6
, pp. 417-421
-
-
Sebik, A.1
Sebik, F.2
Kutluay, E.3
Kuyurtar, F.4
Ademóglu, Y.5
-
34
-
-
79955871941
-
Clinical features and treatment of the hip in multiple epiphyseal dysplasia in childhood
-
Li LY, Zhao Q, Ji SJ, Zhang LJ, Li QW. Clinical features and treatment of the hip in multiple epiphyseal dysplasia in childhood. Orthopedics 2011; 34(5): 352
-
(2011)
Orthopedics
, vol.34
, Issue.5
, pp. 352
-
-
Li, L.Y.1
Zhao, Q.2
Ji, S.J.3
Zhang, L.J.4
Li, Q.W.5
-
36
-
-
68649113809
-
Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia
-
Pavone V, Costarella L, Privitera V, Sessa G: Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia. J Arthroplasty 2009; 24(6): 868-872
-
(2009)
J Arthroplasty
, vol.24
, Issue.6
, pp. 868-872
-
-
Pavone, V.1
Costarella, L.2
Privitera, V.3
Sessa, G.4
-
37
-
-
77950608597
-
Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 years and survival analysis
-
Ramaswamy R, Kosashvili Y, Cameron H: Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 years and survival analysis. J Bone Joint Surg Br 2010; 92(4): 489-495
-
(2010)
J Bone Joint Surg Br
, vol.92
, Issue.4
, pp. 489-495
-
-
Ramaswamy, R.1
Kosashvili, Y.2
Cameron, H.3
-
38
-
-
78549251740
-
Long-Term results of the threaded mecron cup in primary total hip arthroplasty: A 15-20-year follow-up study
-
Clarius M, Jung AW, StreitMR, Merle C, Raiss P, Aldinger PR. Long-Term results of the threaded Mecron cup in primary total hip arthroplasty: A 15-20-year follow-up study. Int Orthop 2010; 34(8): 1093-1098
-
(2010)
Int Orthop
, vol.34
, Issue.8
, pp. 1093-1098
-
-
Clarius, M.1
Jung, A.W.2
Streitmr Merle, C.3
Raiss, P.4
Aldinger, P.R.5
|