| 1 |
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases. ( 31053099
)
|
Won JY...Cho TJ
|
2019 |
| 2 |
A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2. ( 30083037
)
|
Fukuma M...Hasegawa T
|
2018 |
| 3 |
Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL). ( 30647738
)
|
Kong L...Xu J
|
2018 |
| 4 |
Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family. ( 27401665
)
|
Chung SW...Song YW
|
2016 |
| 5 |
Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder. ( 27890699
)
|
Singh SK...Rajoria K
|
2016 |
| 6 |
Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families. ( 25553839
)
|
Liu L...Xia W
|
2015 |
| 7 |
A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2. ( 26594095
)
|
Takagi M...Hasegawa Y
|
2015 |
| 8 |
[Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 26252088
)
|
Wu X...Huang S
|
2015 |
| 9 |
Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract. ( 24862418
)
|
Mandal SK...Chatterjee S
|
2014 |
| 10 |
A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree. ( 24841781
)
|
Xia XY...Li XJ
|
2014 |
| 11 |
Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT. ( 23656395
)
|
Davis EE...Katsanis N
|
2014 |
| 12 |
[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. ( 25297591
)
|
Li J...Zhao L
|
2014 |
| 13 |
A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. ( 23876379
)
|
Wang H...Xie J
|
2013 |
| 14 |
Incidental finding of Tc-99m MDP bone scintigraphy in a case of X-linked spondyloepiphyseal dysplasia tarda. ( 22228351
)
|
Yang F...Yang JG
|
2012 |
| 15 |
X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree. ( 22563562
)
|
Ryu H...Ok IY
|
2012 |
| 16 |
Biomedical and social aspects of spondyloepiphyseal dysplasia tarda cases from bengkulu district of indonesia. ( 23675282
)
|
Ruyani A...Suherlan
|
2012 |
| 17 |
Spondyloepiphyseal dysplasia tarda with progressive arthropathy complicated with paraplegia. ( 21273896
)
|
Yoleri O...Gelal F
|
2011 |
| 18 |
Large Osteochondral Fracture in a Patient with Bilateral Bicondylar Osteochondritis Dissecans and Spondyloepiphyseal Dysplasia Tarda. ( 26815696
)
|
Aird JJ...Hughes P
|
2010 |
| 19 |
Spondyloepiphyseal dysplasia tarda: four cases from two families. ( 18932001
)
|
Bal S...Dirim B
|
2009 |
| 20 |
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 |
| 21 |
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 |
| 22 |
Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda. ( 19650763
)
|
Choi MY...Tanner JA
|
2009 |
| 23 |
A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. ( 19766614
)
|
Xia XY...Huang TT
|
2009 |
| 24 |
[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 |
| 25 |
[Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 18247296
)
|
Zhou WJ...Xu XM
|
2008 |
| 26 |
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 |
| 27 |
Slipped upper femoral epiphysis in a child with spondyloepiphyseal dysplasia tarda: a rare coincidence? ( 19197873
)
|
Arumilli BR...George H
|
2007 |
| 28 |
Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site. ( 15952107
)
|
Ma HW...Niu GH
|
2005 |
| 29 |
Spondyloepiphyseal dysplasia tarda: description of one case. ( 16681109
)
|
Di Motta D...Matteucci C
|
2005 |
| 30 |
[Proliferation, differentiation, and gene expression profile of osteoblast of patient with spondyloepiphyseal dysplasia tarda with progressive arthropathy]. ( 16029628
)
|
Zhou HD...Liao EY
|
2005 |
| 31 |
Gene symbol: WISP3. Disease: spondyloepiphyseal dysplasia tarda with progressive arthropathy. ( 15300964
)
|
Liao EY...Ni JD
|
2004 |
| 32 |
Spondyloepiphyseal dysplasia tarda with progressive arthropathy. ( 15641278
)
|
Kaptano?lu E...T?rel-Erg?r A
|
2004 |
| 33 |
X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations. ( 14755465
)
|
Bar-Yosef U...Birk OS
|
2004 |
| 34 |
A new type of autosomal recessive spondyloepiphyseal dysplasia tarda. ( 14755466
)
|
Leroy JG...Spranger JW
|
2004 |
| 35 |
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. ( 15221797
)
|
Fiedler J...Brenner RE
|
2004 |
| 36 |
[Pathology and molecular pathogenesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy caused by compound CCN6 heterogeneous gene mutations]. ( 15631777
)
|
Peng YQ...Fang TY
|
2004 |
| 37 |
[Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda]. ( 15300622
)
|
Lu JF...Liu XM
|
2004 |
| 38 |
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 |
| 39 |
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ( 12939648
)
|
Savarirayan R...G?cz J
|
2003 |
| 40 |
Spondyloepiphyseal dysplasia tarda simulating juvenile chronic arthritis. ( 14611128
)
|
Korkmaz C...Kasifoglu T
|
2003 |
| 41 |
X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly. ( 14624098
)
|
Fiedler J...Brenner RE
|
2003 |
| 42 |
X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable disorder associated with early degenerative joint disease. ( 14763708
)
|
Fiedler J...Brenner RE
|
2003 |
| 43 |
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. ( 12919139
)
|
Shaw MA...G?cz J
|
2003 |
| 44 |
[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 12579492
)
|
Gao C...Gao TZ
|
2003 |
| 45 |
An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. ( 12030902
)
|
Takahashi T...Takada G
|
2002 |
| 46 |
Spondyloepiphyseal dysplasia tarda: report of one case. ( 12041616
)
|
Shu SG...Chi CS
|
2002 |
| 47 |
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 RE
|
2002 |
| 48 |
Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. ( 12361953
)
|
Jang SB...Oh BH
|
2002 |
| 49 |
A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda. ( 12446987
)
|
Shi YR...Tsai FJ
|
2002 |
| 50 |
Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. ( 11252002
)
|
Matsui Y...Yoshikawa H
|
2001 |
