BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 12746394)

  • 1. Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.
    Turnpenny PD; Whittock N; Duncan J; Dunwoodie S; Kusumi K; Ellard S
    J Med Genet; 2003 May; 40(5):333-9. PubMed ID: 12746394
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
    Bulman MP; Kusumi K; Frayling TM; McKeown C; Garrett C; Lander ES; Krumlauf R; Hattersley AT; Ellard S; Turnpenny PD
    Nat Genet; 2000 Apr; 24(4):438-41. PubMed ID: 10742114
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.
    Whittock NV; Ellard S; Duncan J; de Die-Smulders CE; Vles JS; Turnpenny PD
    Clin Genet; 2004 Jul; 66(1):67-72. PubMed ID: 15200511
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutated MESP2 causes spondylocostal dysostosis in humans.
    Whittock NV; Sparrow DB; Wouters MA; Sillence D; Ellard S; Dunwoodie SL; Turnpenny PD
    Am J Hum Genet; 2004 Jun; 74(6):1249-54. PubMed ID: 15122512
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.
    Whittock NV; Turnpenny PD; Tuerlings J; Ellard S
    Prenat Diagn; 2003 Jul; 23(7):575-9. PubMed ID: 12868087
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.
    Gucev ZS; Tasic V; Pop-Jordanova N; Sparrow DB; Dunwoodie SL; Ellard S; Young E; Turnpenny PD
    Am J Med Genet A; 2010 Jun; 152A(6):1378-82. PubMed ID: 20503311
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Abnormal vertebral segmentation and the notch signaling pathway in man.
    Turnpenny PD; Alman B; Cornier AS; Giampietro PF; Offiah A; Tassy O; Pourquié O; Kusumi K; Dunwoodie S
    Dev Dyn; 2007 Jun; 236(6):1456-74. PubMed ID: 17497699
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Defective somitogenesis and abnormal vertebral segmentation in man.
    Turnpenny PD
    Adv Exp Med Biol; 2008; 638():164-89. PubMed ID: 21038776
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis.
    Chapman G; Sparrow DB; Kremmer E; Dunwoodie SL
    Hum Mol Genet; 2011 Mar; 20(5):905-16. PubMed ID: 21147753
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.
    Bonafé L; Giunta C; Gassner M; Steinmann B; Superti-Furga A
    Clin Genet; 2003 Jul; 64(1):28-35. PubMed ID: 12791036
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dll3 pudgy mutation differentially disrupts dynamic expression of somite genes.
    Kusumi K; Mimoto MS; Covello KL; Beddington RS; Krumlauf R; Dunwoodie SL
    Genesis; 2004 Jun; 39(2):115-21. PubMed ID: 15170697
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Spondylocostal dysostosis: a rare genetic disease].
    Beine O; Bolland J; Verloes A; Lebrun FR; Khamis J; Muller Ch
    Rev Med Liege; 2004 Sep; 59(9):513-6. PubMed ID: 15562550
    [TBL] [Abstract][Full Text] [Related]  

  • 13. When body segmentation goes wrong.
    Pourquié O; Kusumi K
    Clin Genet; 2001 Dec; 60(6):409-16. PubMed ID: 11846732
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.
    Sparrow DB; Chapman G; Wouters MA; Whittock NV; Ellard S; Fatkin D; Turnpenny PD; Kusumi K; Sillence D; Dunwoodie SL
    Am J Hum Genet; 2006 Jan; 78(1):28-37. PubMed ID: 16385447
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
    Sparrow DB; Sillence D; Wouters MA; Turnpenny PD; Dunwoodie SL
    Eur J Hum Genet; 2010 Jun; 18(6):674-9. PubMed ID: 20087400
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygous DMRT2 variant associates with severe rib malformations in a newborn.
    Bouman A; Waisfisz Q; Admiraal J; van de Loo M; van Rijn RR; Micha D; Oostra RJ; Mathijssen IB
    Am J Med Genet A; 2018 May; 176(5):1216-1221. PubMed ID: 29681102
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.
    Turnpenny PD; Bulman MP; Frayling TM; Abu-Nasra TK; Garrett C; Hattersley AT; Ellard S
    Am J Hum Genet; 1999 Jul; 65(1):175-82. PubMed ID: 10364530
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Diverse requirements for Notch signalling in mammals.
    Sparrow DB; Clements M; Withington SL; Scott AN; Novotny J; Sillence D; Kusumi K; Beddington RS; Dunwoodie SL
    Int J Dev Biol; 2002; 46(4):365-74. PubMed ID: 12141422
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.
    Willet CE; Makara M; Reppas G; Tsoukalas G; Malik R; Haase B; Wade CM
    PLoS One; 2015; 10(2):e0117055. PubMed ID: 25659135
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Role of Delta-like-3 in mammalian somitogenesis and vertebral column formation.
    Chapman G; Dunwoodie SL
    Adv Exp Med Biol; 2008; 638():95-112. PubMed ID: 21038772
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.