These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 36064339)

  • 1. A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.
    Shao J; Liu Y; Zhao S; Sun W; Zhan J; Cao L
    BMC Pediatr; 2022 Sep; 22(1):528. PubMed ID: 36064339
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [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; 41(5):561-564. PubMed ID: 38684301
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. [Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1].
    Li CM; Wang FY; Sun WW; Han SL; Chang MX; Feng HG
    Yi Chuan; 2011 Feb; 33(2):147-52. PubMed ID: 21377971
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment.
    Westergaard-Nielsen M; Amstrup T; Wanscher JH; Brusgaard K; Ousager LB
    Int J Pediatr Otorhinolaryngol; 2018 May; 108():208-212. PubMed ID: 29605356
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.
    Das Bhowmik A; Salem Ramakumaran V; Dalal A
    Am J Med Genet A; 2018 Jan; 176(1):219-224. PubMed ID: 29159868
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Proximal symphalangism and premature ovarian failure.
    Kadi N; Tahiri L; Maziane M; Mernissi FZ; Harzy T
    Joint Bone Spine; 2012 Jan; 79(1):83-4. PubMed ID: 22088931
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Multiple synostoses syndrome: Clinical report and retrospective analysis.
    Pan Z; Lu W; Li X; Huang S; Dai P; Yuan Y
    Am J Med Genet A; 2020 Jun; 182(6):1438-1448. PubMed ID: 32259393
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.
    Ishino T; Takeno S; Hirakawa K
    Eur J Med Genet; 2015 Sep; 58(9):427-32. PubMed ID: 26211601
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Tarsal-carpal coalition syndrome: a familial case].
    Caino S; Dello Ruso B; Fano V; Obregón MG
    An Pediatr (Barc); 2012 Jun; 76(6):355-9. PubMed ID: 22326510
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).
    Potti TA; Petty EM; Lesperance MM
    Hum Mutat; 2011 Aug; 32(8):877-86. PubMed ID: 21538686
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.
    Yu R; Jiang H; Liao H; Luo W
    BMC Med Genomics; 2020 Dec; 13(1):187. PubMed ID: 33308208
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
    Ibrahim DM; Tayebi N; Knaus A; Stiege AC; Sahebzamani A; Hecht J; Mundlos S; Spielmann M
    Am J Med Genet A; 2016 Mar; 170(3):615-21. PubMed ID: 26581570
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.