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 *

212 related articles for article (PubMed ID: 37650609)

  • 1. Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast.
    Chen J; Floyd EN; Dawson DS; Rankin S
    Genetics; 2023 Oct; 225(2):. PubMed ID: 37650609
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The expanding phenotypes of cohesinopathies: one ring to rule them all!
    Piché J; Van Vliet PP; Pucéat M; Andelfinger G
    Cell Cycle; 2019 Nov; 18(21):2828-2848. PubMed ID: 31516082
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle.
    Mönnich M; Kuriger Z; Print CG; Horsfield JA
    PLoS One; 2011; 6(5):e20051. PubMed ID: 21637801
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
    Revenkova E; Focarelli ML; Susani L; Paulis M; Bassi MT; Mannini L; Frattini A; Delia D; Krantz I; Vezzoni P; Jessberger R; Musio A
    Hum Mol Genet; 2009 Feb; 18(3):418-27. PubMed ID: 18996922
    [TBL] [Abstract][Full Text] [Related]  

  • 5. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
    Gil-Rodríguez MC; Deardorff MA; Ansari M; Tan CA; Parenti I; Baquero-Montoya C; Ousager LB; Puisac B; Hernández-Marcos M; Teresa-Rodrigo ME; Marcos-Alcalde I; Wesselink JJ; Lusa-Bernal S; Bijlsma EK; Braunholz D; Bueno-Martinez I; Clark D; Cooper NS; Curry CJ; Fisher R; Fryer A; Ganesh J; Gervasini C; Gillessen-Kaesbach G; Guo Y; Hakonarson H; Hopkin RJ; Kaur M; Keating BJ; Kibaek M; Kinning E; Kleefstra T; Kline AD; Kuchinskaya E; Larizza L; Li YR; Liu X; Mariani M; Picker JD; Pié Á; Pozojevic J; Queralt E; Richer J; Roeder E; Sinha A; Scott RH; So J; Wusik KA; Wilson L; Zhang J; Gómez-Puertas P; Casale CH; Ström L; Selicorni A; Ramos FJ; Jackson LG; Krantz ID; Das S; Hennekam RC; Kaiser FJ; FitzPatrick DR; Pié J
    Hum Mutat; 2015 Apr; 36(4):454-62. PubMed ID: 25655089
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.
    Yan J; Zhang F; Brundage E; Scheuerle A; Lanpher B; Erickson RP; Powis Z; Robinson HB; Trapane PL; Stachiw-Hietpas D; Keppler-Noreuil KM; Lalani SR; Sahoo T; Chinault AC; Patel A; Cheung SW; Lupski JR
    J Med Genet; 2009 Sep; 46(9):626-34. PubMed ID: 19052029
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cornelia de Lange syndrome, cohesin, and beyond.
    Liu J; Krantz ID
    Clin Genet; 2009 Oct; 76(4):303-14. PubMed ID: 19793304
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells.
    Gause M; Webber HA; Misulovin Z; Haller G; Rollins RA; Eissenberg JC; Bickel SE; Dorsett D
    Chromosoma; 2008 Feb; 117(1):51-66. PubMed ID: 17909832
    [TBL] [Abstract][Full Text] [Related]  

  • 9. BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome.
    García-Gutiérrez P; García-Domínguez M
    Front Mol Biosci; 2021; 8():709232. PubMed ID: 34386522
    [TBL] [Abstract][Full Text] [Related]  

  • 10. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
    Deardorff MA; Bando M; Nakato R; Watrin E; Itoh T; Minamino M; Saitoh K; Komata M; Katou Y; Clark D; Cole KE; De Baere E; Decroos C; Di Donato N; Ernst S; Francey LJ; Gyftodimou Y; Hirashima K; Hullings M; Ishikawa Y; Jaulin C; Kaur M; Kiyono T; Lombardi PM; Magnaghi-Jaulin L; Mortier GR; Nozaki N; Petersen MB; Seimiya H; Siu VM; Suzuki Y; Takagaki K; Wilde JJ; Willems PJ; Prigent C; Gillessen-Kaesbach G; Christianson DW; Kaiser FJ; Jackson LG; Hirota T; Krantz ID; Shirahige K
    Nature; 2012 Sep; 489(7415):313-7. PubMed ID: 22885700
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.
    Parenti I; Kaiser FJ
    Front Neurosci; 2021; 15():774950. PubMed ID: 34803598
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Cohesin: functions beyond sister chromatid cohesion.
    Mehta GD; Kumar R; Srivastava S; Ghosh SK
    FEBS Lett; 2013 Aug; 587(15):2299-312. PubMed ID: 23831059
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Diverse developmental disorders from the one ring: distinct molecular pathways underlie the cohesinopathies.
    Horsfield JA; Print CG; Mönnich M
    Front Genet; 2012; 3():171. PubMed ID: 22988450
    [TBL] [Abstract][Full Text] [Related]  

  • 15. NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.
    Kaur M; Mehta D; Noon SE; Deardorff MA; Zhang Z; Krantz ID
    Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):163-70. PubMed ID: 27125329
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Could a patient with SMC1A duplication be classified as a human cohesinopathy?
    Baquero-Montoya C; Gil-Rodríguez MC; Teresa-Rodrigo ME; Hernández-Marcos M; Bueno-Lozano G; Bueno-Martínez I; Remeseiro S; Fernández-Hernández R; Bassecourt-Serra M; Rodríguez de Alba M; Queralt E; Losada A; Puisac B; Ramos FJ; Pié J
    Clin Genet; 2014 May; 85(5):446-51. PubMed ID: 23683030
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.
    Parenti I; Rovina D; Masciadri M; Cereda A; Azzollini J; Picinelli C; Limongelli G; Finelli P; Selicorni A; Russo S; Gervasini C; Larizza L
    Epigenetics; 2014 Jul; 9(7):973-9. PubMed ID: 24756084
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
    Pié J; Gil-Rodríguez MC; Ciero M; López-Viñas E; Ribate MP; Arnedo M; Deardorff MA; Puisac B; Legarreta J; de Karam JC; Rubio E; Bueno I; Baldellou A; Calvo MT; Casals N; Olivares JL; Losada A; Hegardt FG; Krantz ID; Gómez-Puertas P; Ramos FJ
    Am J Med Genet A; 2010 Apr; 152A(4):924-9. PubMed ID: 20358602
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.