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Similar articles for PubMed (Select 18831060)

1.

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
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.

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.

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
6.

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
7.

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
8.

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.

9.

Robinow syndrome.

Patton MA, Afzal AR.

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

10.

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.

11.

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.

12.

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
13.

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Schüle B, Oviedo A, Johnston K, Pai S, Francke U.

Am J Hum Genet. 2005 Dec;77(6):1117-28. Epub 2005 Oct 31.

14.

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA.

Am J Med Genet A. 2007 Feb 15;143(4):320-5.

PMID:
17256787
15.

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
16.

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.

17.

[Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B].

Yang W, Tan FQ, Sun M, Zeng X, Liu J, Liu GY, Luo HY, Zhang X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):61-3. Chinese.

PMID:
14767912
18.

Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.

Temtamy SA, Ismail S, Helmy NA.

Genet Couns. 2006;17(1):1-13. Review.

PMID:
16719272
19.

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
20.

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.

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