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Items: 1 to 20 of 106

1.

Robinow syndrome.

Patton MA, Afzal AR.

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

3.

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
4.

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
5.

Robinow syndrome.

Singh SK, Bhadada SK, Singh R, Sinha SK, Singh SK, Agrawal JK.

J Assoc Physicians India. 2000 Aug;48(8):836-7.

PMID:
11273483
6.

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.

Schwabe GC, Trepczik B, Süring K, Brieske N, Tucker AS, Sharpe PT, Minami Y, Mundlos S.

Dev Dyn. 2004 Feb;229(2):400-10.

7.

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
8.

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
9.

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
10.

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.

11.

Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome.

Mazzeu JF, Krepischi-Santos AC, Rosenberg C, Szuhai K, Knijnenburg J, Weiss JM, Kerkis I, Mustacchi Z, Colin G, Mombach R, Pavanello Rde C, Otto PA, Vianna-Morgante AM.

Am J Med Genet A. 2007 Aug 1;143A(15):1790-5. No abstract available.

PMID:
17603805
12.

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.

13.

A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.

Nowakowska B, Kutkowska-Kaźmierczak A, Stankiewicz P, Bocian E, Obersztyn E, Ou Z, Cheung SW, Cai WW.

Am J Med Genet A. 2007 Aug 15;143A(16):1885-9.

PMID:
17632781
14.

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, van Bon BWM, Sutton VR, Lupski JR, Brunner HG, Carvalho CMB.

Am J Hum Genet. 2016 Mar 3;98(3):553-561. doi: 10.1016/j.ajhg.2016.01.005. Epub 2016 Feb 25.

15.

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.

16.

Robinow syndrome without mesomelic 'brachymelia': a report of five cases.

Bain MD, Winter RM, Burn J.

J Med Genet. 1986 Aug;23(4):350-4.

17.

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
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.

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
20.

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

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