-
1
-
-
0037238318
-
Recessive multiple epiphyseal dysplasia (rMED): Phenotype delineation in eighteen homozygotes for DTDST mutation R279W
-
Ballhausen D, Bonafe' L, Terhal P, Ballhausen D, Bonafé L, Terhal P, Unger SL, Bellus G, Classen M, Hamel BC, Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A. 2003. Recessive multiple epiphyseal dysplasia (rMED): Phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet 40:65-71.
-
(2003)
J Med Genet
, vol.40
, pp. 65-71
-
-
Ballhausen, D.1
Bonafe', L.2
Terhal, P.3
Ballhausen, D.4
Bonafé, L.5
Terhal, P.6
Unger, S.L.7
Bellus, G.8
Classen, M.9
Hamel, B.C.10
Spranger, J.11
Zabel, B.12
Cohn, D.H.13
Cole, W.G.14
Hecht, J.T.15
Superti-Furga, A.16
-
2
-
-
0029070079
-
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
-
Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES. 1995. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet 10:330-336.
-
(1995)
Nat Genet
, vol.10
, pp. 330-336
-
-
Briggs, M.D.1
Hoffman, S.M.2
King, L.M.3
Olsen, A.S.4
Mohrenweiser, H.5
Leroy, J.G.6
Mortier, G.R.7
Rimoin, D.L.8
Lachman, R.S.9
Gaines, E.S.10
-
3
-
-
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. 2001. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Nat Genet 28:393-396.
-
(2001)
Nat Genet
, vol.28
, 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
-
4
-
-
0034762339
-
A mutation in COL9A1causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity
-
Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perälä M, Carter L, Spector TD, Kolodziej L, Seppänen U, Glazar R, Królewski J, Latos-Bielenska A, Ala-Kokko L. 2001. A mutation in COL9A1causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity. Am J Hum Genet 69:969-980.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 969-980
-
-
Czarny-Ratajczak, M.1
Lohiniva, J.2
Rogala, P.3
Kozlowski, K.4
Perälä, M.5
Carter, L.6
Spector, T.D.7
Kolodziej, L.8
Seppänen, U.9
Glazar, R.10
Królewski, J.11
Latos-Bielenska, A.12
Ala-Kokko, L.13
-
5
-
-
0032545314
-
Identification of twelve mutations in cartilage oligomeric protein in patients with pseudoachondroplasia
-
Deere M, Sanford T, Ferguson HL, Daniels K, Hecht JT. 1998. Identification of twelve mutations in cartilage oligomeric protein in patients with pseudoachondroplasia. Am J Med Genet 80:510-513.
-
(1998)
Am J Med Genet
, vol.80
, pp. 510-513
-
-
Deere, M.1
Sanford, T.2
Ferguson, H.L.3
Daniels, K.4
Hecht, J.T.5
-
6
-
-
0029035708
-
Mutations in exon 17B of cartilage oligomeric protein (COMP) cause pseudoachondroplasia
-
Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M. 1995. Mutations in exon 17B of cartilage oligomeric protein (COMP) cause pseudoachondroplasia. Nat Genet 10:325-329.
-
(1995)
Nat Genet
, vol.10
, pp. 325-329
-
-
Hecht, J.T.1
Nelson, L.D.2
Crowder, E.3
Wang, Y.4
Elder, F.F.5
Harrison, W.R.6
Francomano, C.A.7
Prange, C.K.8
Lennon, G.G.9
Deere, M.10
-
7
-
-
14944381814
-
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
-
Jakkula E, Mäkitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M, Briggs MD, Cole WG, Ala-Kokko L. 2005. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. Eur J Hum Genet 13:292-301.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 292-301
-
-
Jakkula, E.1
Mäkitie, O.2
Czarny-Ratajczak, M.3
Jackson, G.C.4
Damignani, R.5
Susic, M.6
Briggs, M.D.7
Cole, W.G.8
Ala-Kokko, L.9
-
9
-
-
12344335605
-
MED, COMP, multilayered and NEIN: An overview of multiple epiphyseal dysplasia
-
Lachman RS, Krakow D, Cohn DH, Rimoin DL. 2005. MED, COMP, multilayered and NEIN: An overview of multiple epiphyseal dysplasia. Pediatr Radiol 35:116-123.
-
(2005)
Pediatr Radiol
, vol.35
, pp. 116-123
-
-
Lachman, R.S.1
Krakow, D.2
Cohn, D.H.3
Rimoin, D.L.4
-
10
-
-
0141746302
-
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C635S in the DTDST gene: Double-layer patella as a reliable sign
-
Mäkitie O, Savarirayan R, Bonafé L, Robertson S, Susic M, Superti-Furga A, Cole WG. 2003. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C635S in the DTDST gene: Double-layer patella as a reliable sign. Am J Med Genet Part A 122A:187-192.
-
(2003)
Am J Med Genet
, vol.122 A
, Issue.PART A
, pp. 187-192
-
-
Mäkitie, O.1
Savarirayan, R.2
Bonafé, L.3
Robertson, S.4
Susic, M.5
Superti-Furga, A.6
Cole, W.G.7
-
11
-
-
0029761457
-
A mutation in COL9A2causes multiple epiphyseal dysplasia (EDM2)
-
Muragaki Y, Mariman EC, van Beersum SE, Perälä M, van Mourik JB, Warman ML, Hamel BC, Olsen BR. 1996. A mutation in COL9A2causes multiple epiphyseal dysplasia (EDM2). Ann NY Acad Sci 785:303-306.
-
(1996)
Ann NY Acad Sci
, vol.785
, pp. 303-306
-
-
Muragaki, Y.1
Mariman, E.C.2
van Beersum, S.E.3
Perälä, M.4
van Mourik, J.B.5
Warman, M.L.6
Hamel, B.C.7
Olsen, B.R.8
-
12
-
-
12944257302
-
Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation
-
Nakashima E, Ikegawa S, Ohashi H, Kimizuka M, Nishimura G. 2005. Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. Am J Med Genet Part A 133A:106-107.
-
(2005)
Am J Med Genet
, vol.133 A
, Issue.PART A
, pp. 106-107
-
-
Nakashima, E.1
Ikegawa, S.2
Ohashi, H.3
Kimizuka, M.4
Nishimura, G.5
-
13
-
-
0033361919
-
COL9A3: A third locus for multiple epiphyseal dysplasia
-
Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L. 1999. COL9A3: A third locus for multiple epiphyseal dysplasia. Am J Hum Genet 64:1036-1044.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1036-1044
-
-
Paassilta, P.1
Lohiniva, J.2
Annunen, S.3
Bonaventure, J.4
Le Merrer, M.5
Pai, L.6
Ala-Kokko, L.7
-
14
-
-
0032810551
-
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation
-
Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J. 1999. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet 36:621-624.
-
(1999)
J Med Genet
, vol.36
, pp. 621-624
-
-
Superti-Furga, A.1
Neumann, L.2
Riebel, T.3
Eich, G.4
Steinmann, B.5
Spranger, J.6
Kunze, J.7
|