| 1 | Revisit of multiple epiphyseal dysplasia: ethnic diff erence in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. (21965141) | Kim O.H.... Park S.S. | 2011 | COMP, MATN3 |
| 2 | Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo -Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mut ations. (20503319) | Nishimura G.... Superti-Furga A. | 2010 | TRPV4 |
| 3 | Type IX collagen gene mutations can result in multipl e epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. (20358595) | Jackson G.C.... Briggs M.D. | 2010 | COL9A1, COL9A2, MATN3 |
| 4 | Bilateral total hip arthroplasty in subjects with mul tiple epiphyseal dysplasia. (18789631) | Pavone V.... Sessa G. | 2009 | COMP |
| 5 | Multiple epiphyseal dysplasia. (19995321) | Dahlqvist J.... Gustavson K.H. | 2009 | COL9A2 |
| 6 | A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. (18553123) | Miyake A.... Ikegawa S. | 2008 | SLC26A2 |
| 7 | An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia. (18338162) | Pazzaglia U.E.... Zarattini G. | 2008 | COMP |
| 8 | Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. (18546327) | Vatanavicharn N.... Rimoin D.L. | 2008 | COMP, COL9A2, SLC26A2 |
| 9 | Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation. (17517694) | Leighton M.P.... Briggs M.D. | 2007 | MATN3 |
| 10 | Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. (17133256) | Zankl A.... Briggs M.D. | 2007 | COMP |
| 11 | Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. (16691584) | Itoh T.... Ikegawa S. | 2006 | COL9A1, COL9A2, MATN3 |
| 12 | MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. (15503005) | Lachman R.S.... Rimoin D.L. | 2005 | COMP, MATN3 |
| 13 | Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group. (15880723) | Kennedy J.... Briggs M.D. | 2005 | COMP |
| 14 | Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. (15633184) | Nakashima E.... Nishimura G. | 2005 | SLC26A2 |
| 15 | Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia. (15948199) | Maeda K.... Ikegawa S. | 2005 | MATN3 |
| 16 | Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. (15551337) | Nakashima E.... Ikegawa S. | 2005 | COL9A1, COL9A2, COL9A3 |
| 17 | Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. (14994237) | Makitie O.... Cole W.G. | 2004 | MATN3 |
| 18 | Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. (15459972) | Mabuchi A.... Ikegawa S. | 2004 | COL9A1, COL9A2, MATN3 |
| 19 | Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. (15266613) | Mabuchi A.... Ikegawa S. | 2004 | COMP |
| 20 | Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. (12966518) | Maekitie O.... Cole W.G. | 2003 | SLC26A2 |
| 21 | Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. (12884427) | Mostert A.K.... Lindhout D. | 2003 | MATN3 |
| 22 | Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. (12525546) | Ballhausen D.... Superti-Furga A. | 2003 | SLC26A2 |
| 23 | Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (12768438) | Song H.R.... Jung S.C. | 2003 | COMP |
| 24 | A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. (14684695) | Jakkula E.... Superti-Furga A. | 2003 | COMP |
| 25 | Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. (12483304) | Mabuchi A.... Ikegawa S. | 2003 | COMP |
| 26 | Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. (12205109) | Richards A.J.... Hughes H. | 2002 | COL2A1 |
| 27 | Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). (12244547) | Fiedler J.... Brenner R.E. | 2002 | COL9A2 |
| 28 | A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. (11565064) | Czarny-Ratajczak M.... Ala-Kokko L. | 2001 | COMP, COL9A1, COL9A2 |
| 29 | Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. (11479597) | Chapman K.L.... Briggs M.D. | 2001 | COL9A2, MATN3, COL9A3 |
| 30 | Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. (11200990) | Unger S.L.... Cohn D.H. | 2001 | COL9A2, COL9A3 |
| 31 | Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. (11891674) | Unger S.... Hecht J.T. | 2001 | COMP, COL9A1, COL9A2 |
| 32 | Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX. (11084047) | Thur J.... Maurer P. | 2001 | COMP, CD36 |
| 33 | Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. (11389160) | Bayoumi R.... al-Gazali L.I. | 2001 | ACAN, MMEDF |
| 34 | Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia. (10842095) | Spayde E.C.... Olsen B.R. | 2000 | COL9A2 |
| 35 | A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. (10655510) | Bonnemann C.G.... Kunkel L.M. | 2000 | COMP, COL9A3 |
| 36 | Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (10405447) | Deere M.... Hecht J.T. | 1999 | COMP |
| 37 | Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. (10364514) | Holden P.... Briggs M.D. | 1999 | COL9A2, COL9A3 |
| 38 | COL9A3: A third locus for multiple epiphyseal dysplasia. (10090888) | Paassilta P.... Ala-Kokko L. | 1999 | COL9A1, COL9A2, COL9A3 |
| 39 | A large family with multiple epiphyseal dysplasia linked to COL9A2 gene. (9605591) | van Mourik J.B.... Mariman E.C. | 1998 | COL9A2 |
| 40 | Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (9452026) | Loughlin J.... Sykes B. | 1998 | COMP |
| 41 | Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. (9463320) | Briggs M.D.... Cohn D.H. | 1998 | COMP |
| 42 | Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein. (9184241) | Susic S.... Cole W.G. | 1997 | COMP |
| 43 | Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126) | Cohn D.H.... Knowlton R.G. | 1996 | COMP |
| 44 | A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). (8528240) | Muragaki Y.... Hamel B.C. | 1996 | COL9A2 |
| 45 | A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2). (8702162) | Muragaki Y.... Olsen B.R. | 1996 | COL9A2 |
| 46 | Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. (7670472) | Briggs M.D.... Cohn D.H. | 1995 | COMP |
| 47 | Genetic heterogeneity in multiple epiphyseal dysplasia. (7887425) | Deere M.... Hecht J.T. | 1995 | COL11A2, COL9A2, COL11A1 |
| 48 | Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. (7942845) | Briggs M.D.... Lipson M.H. | 1994 | COL9A2 |
| 49 | A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. (7907311) | Rimoin D.L.... Reinker K. | 1994 | DCN |
| 50 | Multiple Epiphyseal Dysplasia, Rec essive (20301483) | BonafAc L.... Superti-Furga A. | 1993 | SLC26A2 |
