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Journal Abstract Search
168 related items for PubMed ID: 10700182
1. 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. PubMed ID: 10700182 [Abstract] [Full Text] [Related]
2. 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. PubMed ID: 10986040 [Abstract] [Full Text] [Related]
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. PubMed ID: 10932187 [Abstract] [Full Text] [Related]
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. PubMed ID: 10932186 [Abstract] [Full Text] [Related]
5. One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. Afzal AR, Jeffery S. Hum Mutat; 2003 Jul; 22(1):1-11. PubMed ID: 12815588 [Abstract] [Full Text] [Related]
7. 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. PubMed ID: 24954533 [Abstract] [Full Text] [Related]
8. Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2. Sammar M, Stricker S, Schwabe GC, Sieber C, Hartung A, Hanke M, Oishi I, Pohl J, Minami Y, Sebald W, Mundlos S, Knaus P. Genes Cells; 2004 Dec 15; 9(12):1227-38. PubMed ID: 15569154 [Abstract] [Full Text] [Related]
9. [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 15; 21(1):61-3. PubMed ID: 14767912 [Abstract] [Full Text] [Related]
13. 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 15; 54(7):422-5. PubMed ID: 19461659 [Abstract] [Full Text] [Related]
14. 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 01; 18(21):4013-21. PubMed ID: 19640924 [Abstract] [Full Text] [Related]
16. 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 01; 75(4):394-400. PubMed ID: 19236432 [Abstract] [Full Text] [Related]
18. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. Am J Hum Genet; 2007 Aug 01; 81(2):388-96. PubMed ID: 17668388 [Abstract] [Full Text] [Related]
19. Mutation screening in candidate genes in four Chinese brachydactyly families. Dong S, Wang Y, Tao S, Zheng F. Ann Clin Lab Sci; 2015 Aug 01; 45(1):94-9. PubMed ID: 25696018 [Abstract] [Full Text] [Related]
20. The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src. Akbarzadeh S, Wheldon LM, Sweet SM, Talma S, Mardakheh FK, Heath JK. PLoS One; 2008 Mar 26; 3(3):e1873. PubMed ID: 18365018 [Abstract] [Full Text] [Related] Page: [Next] [New Search]