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Results: 16

Related Articles by Review for PubMed (Select 20577006)

1.

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S.

J Med Genet. 2010 Oct;47(10):704-9. doi: 10.1136/jmg.2009.075358. Epub 2010 Jun 24.

PMID:
20577006
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.

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
4.

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.

5.

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
6.

Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

Dwyer E, Hyland J, Modaff P, Pauli RM.

Am J Med Genet A. 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. Review.

PMID:
21077202
7.

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, Åström E, Nordenskjöld M, Nordgren A, Mäkitie O.

Am J Med Genet A. 2014 Jul;164A(7):1635-41. doi: 10.1002/ajmg.a.36502. Epub 2014 Mar 26. Review.

PMID:
24677493
8.

TRPV4 axonal neuropathy spectrum disorder.

McEntagart M.

J Clin Neurosci. 2012 Jul;19(7):927-33. doi: 10.1016/j.jocn.2011.12.003. Epub 2012 May 20. Review.

PMID:
22617546
9.

TRPV4-mediated channelopathies.

Verma P, Kumar A, Goswami C.

Channels (Austin). 2010 Jul-Aug;4(4):319-28. Epub 2010 Jul 6. Review.

PMID:
20676052
10.

The puzzle of TRPV4 channelopathies.

Nilius B, Voets T.

EMBO Rep. 2013 Feb;14(2):152-63. doi: 10.1038/embor.2012.219. Epub 2013 Jan 11. Review. Erratum in: EMBO Rep. 2013 Sep;14(9):845.

11.

The vanilloid transient receptor potential channel TRPV4: from structure to disease.

Everaerts W, Nilius B, Owsianik G.

Prog Biophys Mol Biol. 2010 Sep;103(1):2-17. doi: 10.1016/j.pbiomolbio.2009.10.002. Epub 2009 Oct 14. Review.

PMID:
19835908
12.

A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.

Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R.

Am J Med Genet. 1996 May 3;63(1):144-7. Review.

PMID:
8723100
13.

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
14.
15.

Kozlowski type spondylometaphyseal dysplasia: a case report with literature review.

Nural MS, Diren HB, Sakarya O, Yalin T, Dağdemir A.

Diagn Interv Radiol. 2006 Jun;12(2):70-3. Review.

16.

The skeletal dysplasias.

Krakow D, Rimoin DL.

Genet Med. 2010 Jun;12(6):327-41. doi: 10.1097/GIM.0b013e3181daae9b. Review.

PMID:
20556869
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