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 *

288 related articles for article (PubMed ID: 19154515)

  • 1. On the molecular etiology of Cornelia de Lange syndrome.
    Dorsett D; Krantz ID
    Ann N Y Acad Sci; 2009 Jan; 1151():22-37. PubMed ID: 19154515
    [TBL] [Abstract][Full Text] [Related]  

  • 2. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
    Tonkin ET; Wang TJ; Lisgo S; Bamshad MJ; Strachan T
    Nat Genet; 2004 Jun; 36(6):636-41. PubMed ID: 15146185
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.
    Wu Y; Gause M; Xu D; Misulovin Z; Schaaf CA; Mosarla RC; Mannino E; Shannon M; Jones E; Shi M; Chen WF; Katz OL; Sehgal A; Jongens TA; Krantz ID; Dorsett D
    PLoS Genet; 2015 Nov; 11(11):e1005655. PubMed ID: 26544867
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome.
    Newkirk DA; Chen YY; Chien R; Zeng W; Biesinger J; Flowers E; Kawauchi S; Santos R; Calof AL; Lander AD; Xie X; Yokomori K
    Clin Epigenetics; 2017; 9():89. PubMed ID: 28855971
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
    Kaur M; DeScipio C; McCallum J; Yaeger D; Devoto M; Jackson LG; Spinner NB; Krantz ID
    Am J Med Genet A; 2005 Sep; 138(1):27-31. PubMed ID: 16100726
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes.
    Dorsett D
    Chromosoma; 2007 Feb; 116(1):1-13. PubMed ID: 16819604
    [TBL] [Abstract][Full Text] [Related]  

  • 7. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
    Gillis LA; McCallum J; Kaur M; DeScipio C; Yaeger D; Mariani A; Kline AD; Li HH; Devoto M; Jackson LG; Krantz ID
    Am J Hum Genet; 2004 Oct; 75(4):610-23. PubMed ID: 15318302
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation.
    Strachan T
    Curr Opin Genet Dev; 2005 Jun; 15(3):258-64. PubMed ID: 15917200
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Cornelia de Lange Syndrome.
    Deschamps GN
    Neonatal Netw; 2022 May; 41(3):145-149. PubMed ID: 35644361
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.
    Woods SA; Robinson HB; Kohler LJ; Agamanolis D; Sterbenz G; Khalifa M
    Am J Med Genet A; 2014 Jan; 164A(1):251-8. PubMed ID: 24352918
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Chromatinopathies: A focus on Cornelia de Lange syndrome.
    Avagliano L; Parenti I; Grazioli P; Di Fede E; Parodi C; Mariani M; Kaiser FJ; Selicorni A; Gervasini C; Massa V
    Clin Genet; 2020 Jan; 97(1):3-11. PubMed ID: 31721174
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts.
    Fazio G; Bettini LR; Rigamonti S; Meta D; Biondi A; Cazzaniga G; Selicorni A; Massa V
    Birth Defects Res; 2017 Oct; 109(16):1268-1276. PubMed ID: 28752682
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
    Schoumans J; Wincent J; Barbaro M; Djureinovic T; Maguire P; Forsberg L; Staaf J; Thuresson AC; Borg A; Nordgren A; Malm G; Anderlid BM
    Eur J Hum Genet; 2007 Feb; 15(2):143-9. PubMed ID: 17106445
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.
    Avagliano L; Grazioli P; Mariani M; Bulfamante GP; Selicorni A; Massa V
    Orphanet J Rare Dis; 2017 Nov; 12(1):174. PubMed ID: 29162129
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.
    Castronovo P; Gervasini C; Cereda A; Masciadri M; Milani D; Russo S; Selicorni A; Larizza L
    Chromosome Res; 2009; 17(6):763-71. PubMed ID: 19690971
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cornelia de Lange syndrome.
    Boyle MI; Jespersgaard C; Brøndum-Nielsen K; Bisgaard AM; Tümer Z
    Clin Genet; 2015 Jul; 88(1):1-12. PubMed ID: 25209348
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.