| 1 | Association of a p.Pro786Leu variant in COL2A1 with m ild spondyloepiphyseal dysplasia congenita in a three-generation family. (21204228) | Mark P.R.... Weaver D.D. | 2011 | COL2A1 |
| 2 | Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia cong enita. (21924244) | Zhang Z.... Zhang Z.L. | 2011 | COL2A1 |
| 3 | A novel insertion mutation in the SEDL gene results i n X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. (19766614) | Xia X.Y.... Huang T.T. | 2009 | TRAPPC2 |
| 4 | Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda. (19002213) | Xiong F.... He L. | 2009 | TRAPPC2 |
| 5 | A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. (19417549) | Guo H.... Bai Y. | 2009 | TRAPPC2 |
| 6 | Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. (18698629) | van Roij M.H.... Robertson S.P. | 2008 | CHST1, CHST3 |
| 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 | A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree (18393234) | Lin Y.... Yang Y. | 2008 | TRAPPC2 |
| 9 | Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda (18247296) | Zhou W.J.... Xu X.M. | 2008 | TRAPPC2 |
| 10 | Mutant WISP3 triggers the phenotype shift of articular chondrocytes by promoting sensitivity to IGF-1 hypothesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA). (17363178) | Yang Y.... Liao E. | 2007 | IGF1, WISP3 |
| 11 | A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita. (17509551) | Xia X.... Jin B. | 2007 | COL2A1 |
| 12 | Early neurosurgical intervention in spondyloepiphyseal dysplasias. (16133273) | Al-Shail E.... Ozand P.T. | 2006 | ARSH |
| 13 | Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site. (15952107) | Ma H.W.... Niu G.H. | 2005 | TRAPPC2 |
| 14 | Proliferation, differentiation, and gene expression profile of osteoblast of patient with spondyloepiphyseal dysplasia tarda with progressive arthropathy (16029628) | Zhou H.D.... Liao E.Y. | 2005 | WISP3 |
| 15 | A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. (16080123) | Gleghorn L.... Wallis G. | 2005 | ACAN |
| 16 | Spondyloepiphyseal dysplasia congenita with absent femoral head. (15076581) | Jung S.C.... Song H.R. | 2004 | COL2A1 |
| 17 | Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda (15300622) | Lu J.F.... Liu X.M. | 2004 | TRAPPC2 |
| 18 | Pathology and molecular pathogenesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy caused by compound CCN6 heterogeneous gene mutations (15631777) | Peng Y.Q.... Fang T.Y. | 2004 | WISP3 |
| 19 | X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. (15221797) | Fiedler J.... Brenner R.E. | 2004 | TRAPPC2 |
| 20 | Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia. (15316971) | Shaw M.A.... Gecz J. | 2004 | TRAPPC2 |
| 21 | X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations. (14755465) | Bar-Yosef U.... Birk O.S. | 2004 | TRAPPC2 |
| 22 | Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). (12939648) | Savarirayan R.... Gecz J. | 2003 | TRAPPC2, TRAPPC2P1 |
| 23 | A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family. (12650905) | Xiao C.... Su Z. | 2003 | TRAPPC2 |
| 24 | Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men. (12123495) | Fiedler J.... Brenner R.E. | 2002 | TRAPPC2 |
| 25 | An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. (12030902) | Takahashi T.... Takada G. | 2002 | TRAPPC2 |
| 26 | A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda. (12446987) | Shi Y.R.... Tsai F.J. | 2002 | TRAPPC2 |
| 27 | Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. (12361953) | Jang S.B.... Oh B.H. | 2002 | TRAPPC2 |
| 28 | Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene. (12205105) | Eyre S.... Wallis G. | 2002 | ACAN |
| 29 | Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. (11443194) | Christie P.T.... Thakker R.V. | 2001 | TRAPPC2 |
| 30 | The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. (11595175) | Mumm S.... Whyte M.P. | 2001 | TRAPPC2 |
| 31 | Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin. (11760838) | Mumm S.... Whyte M.P. | 2001 | TRAPPC2 |
| 32 | A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. (11424925) | Grunebaum E.... Roifman C.M. | 2001 | TRAPPC2 |
| 33 | A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred. (10999831) | Mumm S.... Whyte M.P. | 2000 | TRAPPC2 |
| 34 | Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. (11031107) | Gecz J.... Mulley J.C. | 2000 | TRAPPC2, TRAPPC2P1, TRAPPC2P4 |
| 35 | Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. (10431248) | Gedeon A.K.... Gecz J. | 1999 | TRAPPC2, TRAPPC2P1 |
| 36 | Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia. (8893763) | Chen L.... Cole W.G. | 1996 | COL2A1 |
| 37 | Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there 'hot spots' on COL2A1? (8877930) | Bleasel J.F.... Moskowitz R.W. | 1996 | COL2A1 |
| 38 | Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia. (8733060) | Bernard L.E.... Langlois S. | 1996 | TRAPPC2 |
| 39 | An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. (7847372) | Tiller G.E.... Eyre D.R. | 1995 | COL2A1 |
| 40 | A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia. (8019561) | Ritvaniemi P.... Prockop D.J. | 1994 | GGT1, COL2A1 |
| 41 | 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. (8024616) | Reginato A.J.... Williams C.J. | 1994 | COL2A1 |
| 42 | Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia. (7700721) | Spranger J.... Zabel B. | 1994 | COL2A1 |
| 43 | Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. (8325895) | Chan D.... Cole W.G. | 1993 | COL2A1 |
| 44 | The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. (8423604) | Cole W.G.... Rogers J.G. | 1993 | COL2A1 |
| 45 | Spondyloepiphyseal dysplasia tarda simulating juvenile arthritis: clinical and molecular genetic observations. (1395225) | Lewkonia R.M.... Bech-Hansen N.T. | 1992 | COL2A1 |
| 46 | Spondyloepiphyseal dysplasia in a Cape Town family: linkage with the gene for type II collagen (COL2A1). (1353665) | Ramesar R.... Beighton P. | 1992 | COL2A1 |
| 47 | Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI). (1971141) | Anderson I.J.... Tsipouras P. | 1990 | COL2A1 |
| 48 | Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen. (1978986) | Anderson I.J.... Beighton P. | 1990 | COL2A1 |
| 49 | Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. (2339128) | Tiller G.E.... Cohn D.H. | 1990 | COL2A1 |
| 50 | Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. (2543071) | Lee B.... Rimoin D.L. | 1989 | COL2A1 |
