BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 26206533)

  • 21. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
    Ratajska M; Wierzba J; Pehlivan D; Xia Z; Brundage EK; Cheung SW; Stankiewicz P; Lupski JR; Limon J
    Eur J Med Genet; 2010; 53(6):378-82. PubMed ID: 20727427
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.
    Sarogni P; Pallotta MM; Musio A
    J Med Genet; 2020 May; 57(5):289-295. PubMed ID: 31704779
    [TBL] [Abstract][Full Text] [Related]  

  • 23. L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.
    Xu B; Sowa N; Cardenas ME; Gerton JL
    Hum Mol Genet; 2015 Mar; 24(6):1540-55. PubMed ID: 25378554
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation.
    Bottai D; Spreafico M; Pistocchi A; Fazio G; Adami R; Grazioli P; Canu A; Bragato C; Rigamonti S; Parodi C; Cazzaniga G; Biondi A; Cotelli F; Selicorni A; Massa V
    Hum Mol Genet; 2019 Jan; 28(1):64-73. PubMed ID: 30239720
    [TBL] [Abstract][Full Text] [Related]  

  • 25. How many roads lead to cohesinopathies?
    Banerji R; Skibbens RV; Iovine MK
    Dev Dyn; 2017 Nov; 246(11):881-888. PubMed ID: 28422453
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.
    Gervasini C; Parenti I; Picinelli C; Azzollini J; Masciadri M; Cereda A; Selicorni A; Russo S; Finelli P; Larizza L
    Eur J Med Genet; 2013 Mar; 56(3):138-43. PubMed ID: 23313159
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Cornelia de Lange syndrome.
    Liu J; Baynam G
    Adv Exp Med Biol; 2010; 685():111-23. PubMed ID: 20687500
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.
    Kline AD; Calof AL; Lander AD; Gerton JL; Krantz ID; Dorsett D; Deardorff MA; Blagowidow N; Yokomori K; Shirahige K; Santos R; Woodman J; Megee PC; O'Connor JT; Egense A; Noon S; Belote M; Goodban MT; Hansen BD; Timmons JG; Musio A; Ishman SL; Bryan Y; Wu Y; Bettini LR; Mehta D; Zakari M; Mills JA; Srivastava S; Haaland RE
    Am J Med Genet A; 2015 Jun; 167(6):1179-92. PubMed ID: 25899772
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.
    Mannini L; Liu J; Krantz ID; Musio A
    Hum Mutat; 2010 Jan; 31(1):5-10. PubMed ID: 19842212
    [TBL] [Abstract][Full Text] [Related]  

  • 30. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
    Liu J; Feldman R; Zhang Z; Deardorff MA; Haverfield EV; Kaur M; Li JR; Clark D; Kline AD; Waggoner DJ; Das S; Jackson LG; Krantz ID
    Hum Mutat; 2009 Nov; 30(11):1535-42. PubMed ID: 19701948
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.
    Gimigliano A; Mannini L; Bianchi L; Puglia M; Deardorff MA; Menga S; Krantz ID; Musio A; Bini L
    J Proteome Res; 2012 Dec; 11(12):6111-23. PubMed ID: 23106691
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Esco2 regulates cx43 expression during skeletal regeneration in the zebrafish fin.
    Banerji R; Eble DM; Iovine MK; Skibbens RV
    Dev Dyn; 2016 Jan; 245(1):7-21. PubMed ID: 26434741
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Genome-wide DNA methylation analysis in cohesin mutant human cell lines.
    Liu J; Zhang Z; Bando M; Itoh T; Deardorff MA; Li JR; Clark D; Kaur M; Tatsuro K; Kline AD; Chang C; Vega H; Jackson LG; Spinner NB; Shirahige K; Krantz ID
    Nucleic Acids Res; 2010 Sep; 38(17):5657-71. PubMed ID: 20448023
    [TBL] [Abstract][Full Text] [Related]  

  • 34. RAD21 mutations cause a human cohesinopathy.
    Deardorff MA; Wilde JJ; Albrecht M; Dickinson E; Tennstedt S; Braunholz D; Mönnich M; Yan Y; Xu W; Gil-Rodríguez MC; Clark D; Hakonarson H; Halbach S; Michelis LD; Rampuria A; Rossier E; Spranger S; Van Maldergem L; Lynch SA; Gillessen-Kaesbach G; Lüdecke HJ; Ramsay RG; McKay MJ; Krantz ID; Xu H; Horsfield JA; Kaiser FJ
    Am J Hum Genet; 2012 Jun; 90(6):1014-27. PubMed ID: 22633399
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Phenotypes and genotypes in individuals with SMC1A variants.
    Huisman S; Mulder PA; Redeker E; Bader I; Bisgaard AM; Brooks A; Cereda A; Cinca C; Clark D; Cormier-Daire V; Deardorff MA; Diderich K; Elting M; van Essen A; FitzPatrick D; Gervasini C; Gillessen-Kaesbach G; Girisha KM; Hilhorst-Hofstee Y; Hopman S; Horn D; Isrie M; Jansen S; Jespersgaard C; Kaiser FJ; Kaur M; Kleefstra T; Krantz ID; Lakeman P; Landlust A; Lessel D; Michot C; Moss J; Noon SE; Oliver C; Parenti I; Pie J; Ramos FJ; Rieubland C; Russo S; Selicorni A; Tümer Z; Vorstenbosch R; Wenger TL; van Balkom I; Piening S; Wierzba J; Hennekam RC
    Am J Med Genet A; 2017 Aug; 173(8):2108-2125. PubMed ID: 28548707
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome.
    Remeseiro S; Cuadrado A; Kawauchi S; Calof AL; Lander AD; Losada A
    Biochim Biophys Acta; 2013 Dec; 1832(12):2097-102. PubMed ID: 23920377
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A cohesin-independent role for NIPBL at promoters provides insights in CdLS.
    Zuin J; Franke V; van Ijcken WF; van der Sloot A; Krantz ID; van der Reijden MI; Nakato R; Lenhard B; Wendt KS
    PLoS Genet; 2014 Feb; 10(2):e1004153. PubMed ID: 24550742
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.
    Nolen LD; Boyle S; Ansari M; Pritchard E; Bickmore WA
    Hum Mol Genet; 2013 Oct; 22(20):4180-93. PubMed ID: 23760082
    [TBL] [Abstract][Full Text] [Related]  

  • 39. SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.
    Mannini L; Menga S; Tonelli A; Zanotti S; Bassi MT; Magnani C; Musio A
    Am J Med Genet A; 2012 Jan; 158A(1):224-8. PubMed ID: 22140011
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Further Characterization of
    Barañano KW; Kimball A; Fong SL; Egense AS; Hudon C; Kline AD
    J Child Neurol; 2022 Apr; 37(5):390-396. PubMed ID: 35238682
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.