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Items: 1 to 20 of 112

1.

WNT5A mutations in patients with autosomal dominant Robinow syndrome.

Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ Jr, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL.

Dev Dyn. 2010 Jan;239(1):327-37. doi: 10.1002/dvdy.22156.

2.

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.

Roifman M, Marcelis CL, Paton T, Marshall C, Silver R, Lohr JL, Yntema HG, Venselaar H, Kayserili H, van Bon B, Seaward G; FORGE Canada Consortium, Brunner HG, Chitayat D.

Clin Genet. 2015;87(1):34-41. doi: 10.1111/cge.12401. Epub 2014 May 24.

PMID:
24716670
4.

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
5.

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.

6.

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
7.

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
8.

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
9.

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.

10.

Robinow syndrome.

Patton MA, Afzal AR.

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

11.

Ror-family receptor tyrosine kinases in noncanonical Wnt signaling: their implications in developmental morphogenesis and human diseases.

Minami Y, Oishi I, Endo M, Nishita M.

Dev Dyn. 2010 Jan;239(1):1-15. doi: 10.1002/dvdy.21991. Review.

12.

Novel domains of expression for orphan receptor tyrosine kinase Ror2 in the human and mouse reproductive system.

Arora R, Altman E, Tran ND, Laird DJ.

Dev Dyn. 2014 Aug;243(8):1037-45. doi: 10.1002/dvdy.24138. Epub 2014 May 6.

13.

The orphan tyrosine kinase receptor, ROR2, mediates Wnt5A signaling in metastatic melanoma.

O'Connell MP, Fiori JL, Xu M, Carter AD, Frank BP, Camilli TC, French AD, Dissanayake SK, Indig FE, Bernier M, Taub DD, Hewitt SM, Weeraratna AT.

Oncogene. 2010 Jan 7;29(1):34-44. doi: 10.1038/onc.2009.305. Epub 2009 Oct 5.

14.

The Wnt5a/Ror2 noncanonical signaling pathway inhibits canonical Wnt signaling in K562 cells.

Yuan Y, Niu CC, Deng G, Li ZQ, Pan J, Zhao C, Yang ZL, Si WK.

Int J Mol Med. 2011 Jan;27(1):63-9. doi: 10.3892/ijmm.2010.560. Epub 2010 Nov 10.

PMID:
21069266
15.

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
16.

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
17.

The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway.

Oishi I, Suzuki H, Onishi N, Takada R, Kani S, Ohkawara B, Koshida I, Suzuki K, Yamada G, Schwabe GC, Mundlos S, Shibuya H, Takada S, Minami Y.

Genes Cells. 2003 Jul;8(7):645-54.

18.

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA.

Am J Med Genet A. 2008 Nov 1;146A(21):2804-9. doi: 10.1002/ajmg.a.32530.

PMID:
18831060
19.

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.

Mehawej C, Chouery E, Maalouf D, Baujat G, Le Merrer M, Cormier-Daire V, Mégarbané A.

Eur J Med Genet. 2012 Feb;55(2):103-8. doi: 10.1016/j.ejmg.2011.11.003. Epub 2011 Nov 27.

PMID:
22178368
20.

Induced Wnt5a expression perturbs embryonic outgrowth and intestinal elongation, but is well-tolerated in adult mice.

Bakker ER, Raghoebir L, Franken PF, Helvensteijn W, van Gurp L, Meijlink F, van der Valk MA, Rottier RJ, Kuipers EJ, van Veelen W, Smits R.

Dev Biol. 2012 Sep 1;369(1):91-100. doi: 10.1016/j.ydbio.2012.06.007. Epub 2012 Jun 9.

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