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Items: 1 to 20 of 86

1.

A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.

Schwarzer W, Witte F, Rajab A, Mundlos S, Stricker S.

Hum Mol Genet. 2009 Nov 1;18(21):4013-21. doi: 10.1093/hmg/ddp345. Epub 2009 Jul 29.

PMID:
19640924
3.

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tüysüz B, Murday VA, Patton MA, Wilkie AO, Jeffery S.

Nat Genet. 2000 Aug;25(4):419-22.

PMID:
10932186
4.

Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B.

Wang B, Sinha T, Jiao K, Serra R, Wang J.

Hum Mol Genet. 2011 Jan 15;20(2):271-85. doi: 10.1093/hmg/ddq462. Epub 2010 Oct 20.

5.

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

Ben-Shachar S, Khajavi M, Withers MA, Shaw CA, van Bokhoven H, Brunner HG, Lupski JR.

Clin Genet. 2009 Apr;75(4):394-400. doi: 10.1111/j.1399-0004.2008.01114.x. Epub 2009 Feb 19.

PMID:
19236432
6.

A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B.

Habib R, Amin-ud-din M, Ahmad W.

Clin Dysmorphol. 2013 Apr;22(2):47-50. doi: 10.1097/MCD.0b013e32835c6c8c.

PMID:
23238279
7.

Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.

Ali BR, Jeffery S, Patel N, Tinworth LE, Meguid N, Patton MA, Afzal AR.

Hum Genet. 2007 Nov;122(3-4):389-95. Epub 2007 Jul 31.

PMID:
17665217
8.

The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome.

Raz R, Stricker S, Gazzerro E, Clor JL, Witte F, Nistala H, Zabski S, Pereira RC, Stadmeyer L, Wang X, Gowen L, Sleeman MW, Yancopoulos GD, Canalis E, Mundlos S, Valenzuela DM, Economides AN.

Development. 2008 May;135(9):1713-23. doi: 10.1242/dev.015149. Epub 2008 Mar 19.

9.

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG.

Nat Genet. 2000 Aug;25(4):423-6.

PMID:
10932187
10.

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Aglan M, Amr K, Ismail S, Ashour A, Otaify GA, Mehrez MA, Aboul-Ezz EH, El-Ruby M, Mazen I, Abdel-Hamid MS, Temtamy SA.

Am J Med Genet A. 2015 Dec;167A(12):3054-61. doi: 10.1002/ajmg.a.37287. Epub 2015 Aug 18.

PMID:
26284319
11.

A new mutation in the gene ROR2 causes brachydactyly type B1.

Huang D, Jiang S, Zhang Y, Liu X, Zhang J, He R.

Gene. 2014 Aug 15;547(1):106-10. doi: 10.1016/j.gene.2014.06.035. Epub 2014 Jun 19.

PMID:
24954533
12.

A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.

Lv D, Luo Y, Yang W, Cao L, Wen Y, Zhao X, Sun M, Lo WH, Zhang X.

J Hum Genet. 2009 Jul;54(7):422-5. doi: 10.1038/jhg.2009.48. Epub 2009 May 22.

PMID:
19461659
13.

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S.

Am J Hum Genet. 2000 Oct;67(4):822-31. Epub 2000 Sep 12.

14.

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.

Tufan F, Cefle K, Türkmen S, Türkmen A, Zorba U, Dursun M, Oztürk S, Palandüz S, Ecder T, Mundlos S, Horn D.

Am J Med Genet A. 2005 Jul 15;136(2):185-9.

PMID:
15952209
15.

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO.

Nat Genet. 2000 Mar;24(3):275-8.

PMID:
10700182
16.

ROR-Family Receptor Tyrosine Kinases.

Stricker S, Rauschenberger V, Schambony A.

Curr Top Dev Biol. 2017;123:105-142. doi: 10.1016/bs.ctdb.2016.09.003. Epub 2016 Oct 31. Review.

PMID:
28236965
17.

Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.

Tamhankar PM, Vasudevan L, Kondurkar S, Yashaswini K, Agarwalla SK, Nair M, Ramkumar TV, Chaubal N, Chennuri VS.

J Clin Res Pediatr Endocrinol. 2014;6(2):79-83. doi: 10.4274/Jcrpe.1233.

18.

Mutation screening in candidate genes in four Chinese brachydactyly families.

Dong S, Wang Y, Tao S, Zheng F.

Ann Clin Lab Sci. 2015 Winter;45(1):94-9.

PMID:
25696018
19.

[Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1].

Li CM, Wang FY, Sun WW, Han SL, Chang MX, Feng HG.

Yi Chuan. 2011 Feb;33(2):147-52. Chinese.

PMID:
21377971
20.

Robinow syndrome.

Patton MA, Afzal AR.

J Med Genet. 2002 May;39(5):305-10. Review.

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