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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 [TBL] [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 [TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 23238279 [TBL] [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; 547(1):106-10. PubMed ID: 24954533 [TBL] [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; 9(12):1227-38. PubMed ID: 15569154 [TBL] [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; 21(1):61-3. PubMed ID: 14767912 [TBL] [Abstract][Full Text] [Related]
11. Expression and function of the Ror-family receptor tyrosine kinases during development: lessons from genetic analyses of nematodes, mice, and humans. Yoda A; Oishi I; Minami Y J Recept Signal Transduct Res; 2003 Feb; 23(1):1-15. PubMed ID: 12680586 [TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 18353862 [TBL] [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; 54(7):422-5. PubMed ID: 19461659 [TBL] [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; 18(21):4013-21. PubMed ID: 19640924 [TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 17665217 [TBL] [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; 75(4):394-400. PubMed ID: 19236432 [TBL] [Abstract][Full Text] [Related]
17. Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. Stricker S; Verhey van Wijk N; Witte F; Brieske N; Seidel K; Mundlos S Dev Dyn; 2006 Dec; 235(12):3456-65. PubMed ID: 17061261 [TBL] [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; 81(2):388-96. PubMed ID: 17668388 [TBL] [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; 45(1):94-9. PubMed ID: 25696018 [TBL] [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; 3(3):e1873. PubMed ID: 18365018 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]