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Items: 1 to 20 of 169

1.

PAPSS2 mutations cause autosomal recessive brachyolmia.

Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S.

J Med Genet. 2012 Aug;49(8):533-8. doi: 10.1136/jmedgenet-2012-101039. Epub 2012 Jul 11.

PMID:
22791835
2.

Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.

Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S.

Hum Mutat. 2013 Oct;34(10):1381-6. doi: 10.1002/humu.22377. Epub 2013 Jul 26.

PMID:
23824674
3.

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
4.

Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.

Tüysüz B, Yılmaz S, Gül E, Kolb L, Bilguvar K, Evliyaoğlu O, Günel M.

Am J Med Genet A. 2013 Jun;161A(6):1300-8. doi: 10.1002/ajmg.a.35906. Epub 2013 Apr 30.

PMID:
23633440
5.

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R.

Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37.

6.

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A.

Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414.

PMID:
20503319
7.
8.

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH.

Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19.

10.

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.

Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V.

Am J Med Genet A. 2006 Mar 1;140(5):421-6.

PMID:
16470731
11.

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
12.

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
13.

Degenerative knee joint disease in mice lacking 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (Papss2) activity: a putative model of human PAPSS2 deficiency-associated arthrosis.

Ford-Hutchinson AF, Ali Z, Seerattan RA, Cooper DM, Hallgrímsson B, Salo PT, Jirik FR.

Osteoarthritis Cartilage. 2005 May;13(5):418-25.

14.

Brachyolmia and spinal stenosis.

Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M.

Am J Med Genet A. 2003 Jul 15;120A(2):272-5.

PMID:
12833413
15.

Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis.

Ikeda T, Mabuchi A, Fukuda A, Hiraoka H, Kawakami A, Yamamoto S, Machida H, Takatori Y, Kawaguchi H, Nakamura K, Ikegawa S.

J Hum Genet. 2001;46(9):538-43.

PMID:
11558903
16.

Autosomal recessive brachyolmia: early radiological findings.

Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G.

Skeletal Radiol. 2016 Nov;45(11):1557-60. doi: 10.1007/s00256-016-2458-8. Epub 2016 Aug 21.

PMID:
27544198
17.

Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.

Cho TJ, Kim OH, Lee HR, Shin SJ, Yoo WJ, Park WY, Park SS, Cho SI, Choi IH.

J Korean Med Sci. 2010 Jul;25(7):1105-8. doi: 10.3346/jkms.2010.25.7.1105. Epub 2010 Jun 16.

18.

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

Kim OH, Park H, Seong MW, Cho TJ, Nishimura G, Superti-Furga A, Unger S, Ikegawa S, Choi IH, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Oh CW, Jeong C, Song KS, Seo SG, Cho SI, Yeo IK, Kim SY, Park S, Park SS.

Am J Med Genet A. 2011 Nov;155A(11):2669-80. doi: 10.1002/ajmg.a.34246. Epub 2011 Sep 30.

PMID:
21965141
19.

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. doi: 10.3343/alm.2012.32.3.234. Epub 2012 Apr 18.

20.

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH.

Nat Genet. 2008 Aug;40(8):999-1003. doi: 10.1038/ng.166. Epub 2008 Jun 29.

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