147 related articles for article (PubMed ID: 31053099)
1. Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.
Won JY; Kim D; Park SY; Lee HR; Lim JS; Park JH; Song MH; Song HR; Kim OH; Kim Y; Cho TJ
BMC Med Genet; 2019 May; 20(1):70. PubMed ID: 31053099
[TBL] [Abstract][Full Text] [Related]
2. A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
Zhang C; Du C; Ye J; Ye F; Wang R; Luo X; Liang Y
BMC Med Genet; 2020 May; 21(1):117. PubMed ID: 32471379
[TBL] [Abstract][Full Text] [Related]
3. A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.
Zhang L; Wang J; Dong G; Wu D; Wu W
Medicine (Baltimore); 2021 Mar; 100(11):e25169. PubMed ID: 33726005
[TBL] [Abstract][Full Text] [Related]
4. X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree.
Ryu H; Park J; Chae H; Kim M; Kim Y; Ok IY
Ann Lab Med; 2012 May; 32(3):234-7. PubMed ID: 22563562
[TBL] [Abstract][Full Text] [Related]
5. Novel TRAPPC2 mutation in a boy with X-linked spondylo-epiphyseal dysplasia tarda.
Adachi H; Takahashi I; Takahashi T
Pediatr Int; 2014 Dec; 56(6):925-928. PubMed ID: 25521980
[TBL] [Abstract][Full Text] [Related]
6. A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
Wang H; Wu W; Xu Z; Xie J
Clin Chim Acta; 2013 Oct; 425():30-3. PubMed ID: 23876379
[TBL] [Abstract][Full Text] [Related]
7. A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
Xia XY; Cui YX; Zhou YC; Zhou X; Shi YC; Wei L; Li XJ; Huang YF; Huang TT
Clin Chim Acta; 2009 Dec; 410(1-2):39-42. PubMed ID: 19766614
[TBL] [Abstract][Full Text] [Related]
8. Functional analysis of a novel nonsense variant c.91A>T of the
Lou G; Zhao Y; Zhao H; Zhang Y; Hao B; Qin L; Liu H; Liao S
Front Genet; 2023; 14():1216592. PubMed ID: 37693308
[TBL] [Abstract][Full Text] [Related]
9. Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.
Davis EE; Savage JH; Willer JR; Jiang YH; Angrist M; Androutsopoulos A; Katsanis N
Clin Genet; 2014 Apr; 85(4):359-64. PubMed ID: 23656395
[TBL] [Abstract][Full Text] [Related]
10. [Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
Wu X; Deng K; Wang C; Li G; Lin J; Wang R; Wu H; Huang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Aug; 32(4):476-80. PubMed ID: 26252088
[TBL] [Abstract][Full Text] [Related]
11. The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
Zong M; Wu XG; Chan CW; Choi MY; Chan HC; Tanner JA; Yu S
PLoS One; 2011; 6(8):e23350. PubMed ID: 21858081
[TBL] [Abstract][Full Text] [Related]
12. A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.
Guo H; Xu X; Wang K; Zhang B; Deng G; Wang Y; Bai Y
J Genet; 2009 Apr; 88(1):87-91. PubMed ID: 19417549
[No Abstract] [Full Text] [Related]
13. Role of trafficking protein particle complex 2 in medaka development.
Zappa F; Intartaglia D; Guarino AM; De Cegli R; Wilson C; Salierno FG; Polishchuk E; Sorrentino NC; Conte I; De Matteis MA
Traffic; 2024 Jan; 25(1):e12924. PubMed ID: 37963679
[TBL] [Abstract][Full Text] [Related]
14. [A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree].
Lin Y; Rao SQ; Yang Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Apr; 25(2):150-3. PubMed ID: 18393234
[TBL] [Abstract][Full Text] [Related]
15. [Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda].
Li J; Chai X; Lu L; Zhu J; Du X; Zhao L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):604-7. PubMed ID: 25297591
[TBL] [Abstract][Full Text] [Related]
16. X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly.
Fiedler J; Frances AM; Le Merrer M; Richter M; Brenner RE
Spine (Phila Pa 1976); 2003 Nov; 28(22):E478-82. PubMed ID: 14624098
[TBL] [Abstract][Full Text] [Related]
17. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
Savarirayan R; Thompson E; Gécz J
Eur J Hum Genet; 2003 Sep; 11(9):639-42. PubMed ID: 12939648
[TBL] [Abstract][Full Text] [Related]
18. [Prenatal diagnosis of a case with X-linked spondyloepiphyseal dysplasia tarda].
Cao F; Wang QW; Yu B; Huang RP; Hu YL; Zhang XQ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Oct; 30(5):598-600. PubMed ID: 24078579
[TBL] [Abstract][Full Text] [Related]
19. Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin.
Mumm S; Zhang X; Gottesman GS; McAlister WH; Whyte MP
J Bone Miner Res; 2001 Dec; 16(12):2245-50. PubMed ID: 11760838
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]