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Items: 9

  • Showing results for metatropic dysplasia AND humans[mesh] AND review[publication type]. Your search for Metatrophic dysplasia AND humans[mesh] AND review[publication type] retrieved no results.
1.

Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.

Kang SS, Shin SH, Auh CK, Chun J.

Exp Mol Med. 2012 Dec 31;44(12):707-22. doi: 10.3858/emm.2012.44.12.080. Review.

2.

TRPV4-associated skeletal dysplasias.

Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):190-204. doi: 10.1002/ajmg.c.31335. Epub 2012 Jul 12. Review.

PMID:
22791502
3.

[Metatropic dysplasia as the cause of atlantoaxial instability, spinal stenosis and myelopathy: case report and literature review].

Barna M, Stulík J, Fencl F.

Acta Chir Orthop Traumatol Cech. 2012;79(2):169-74. Review. Czech.

PMID:
22538111
4.

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

Nemec SF, Cohn DH, Krakow D, Funari VA, Rimoin DL, Lachman RS.

Pediatr Radiol. 2012 Jan;42(1):15-23. doi: 10.1007/s00247-011-2229-6. Epub 2011 Aug 24. Review.

PMID:
21863289
5.

Transient receptor potential genes and human inherited disease.

Everett KV.

Adv Exp Med Biol. 2011;704:1011-32. doi: 10.1007/978-94-007-0265-3_52. Review.

PMID:
21290338
6.

TRPV4-pathy, a novel channelopathy affecting diverse systems.

Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S.

J Hum Genet. 2010 Jul;55(7):400-2. doi: 10.1038/jhg.2010.37. Epub 2010 May 27. Review.

PMID:
20505684
7.

Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature.

Geneviève D, Le Merrer M, Feingold J, Munnich A, Maroteaux P, Cormier-Daire V.

Am J Med Genet A. 2008 Apr 15;146A(8):992-6. doi: 10.1002/ajmg.a.32191. Review.

PMID:
18348257
8.

[Metatropic dysplasia].

Nishimura G.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):182-3. Review. Japanese. No abstract available.

PMID:
11528690
9.

Radiologic nosology of bone dysplasias.

Spranger J.

Am J Med Genet. 1989 Sep;34(1):96-104. Review.

PMID:
2683785

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