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Journal Abstract Search

132 related items for PubMed ID: 23238279

  • 1. 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
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  • 4. 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
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  • 6. 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
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  • 10. 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
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  • 11. [Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene].
    Ren H, Zhao W, Jiang N, Li S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May 10; 41(5):561-564. PubMed ID: 38684301
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  • 14. 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 10; 25(4):423-6. PubMed ID: 10932187
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  • 16. 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. PubMed ID: 20962035
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  • 17. 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 15; 122(3-4):389-95. PubMed ID: 17665217
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  • 18. 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 15; 55(2):103-8. PubMed ID: 22178368
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  • 19. 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, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL.
    Dev Dyn; 2010 Jan 15; 239(1):327-37. PubMed ID: 19918918
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  • 20. 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 15; 167A(12):3054-61. PubMed ID: 26284319
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