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.
445 related articles for article (PubMed ID: 22633399)
1. 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]
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. Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts. Kline AD; Calof AL; Schaaf CA; Krantz ID; Jyonouchi S; Yokomori K; Gauze M; Carrico CS; Woodman J; Gerton JL; Vega H; Levin AV; Shirahige K; Champion M; Goodban MT; O'Connor JT; Pipan M; Horsfield J; Deardorff MA; Ishman SL; Dorsett D Am J Med Genet A; 2014 Jun; 164A(6):1384-93. PubMed ID: 24504889 [TBL] [Abstract][Full Text] [Related]
4. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Mannini L; Cucco F; Quarantotti V; Krantz ID; Musio A Hum Mutat; 2013 Dec; 34(12):1589-96. PubMed ID: 24038889 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. Gudmundsson S; Annerén G; Marcos-Alcalde Í; Wilbe M; Melin M; Gómez-Puertas P; Bondeson ML Eur J Med Genet; 2019 Jun; 62(6):103526. PubMed ID: 30125677 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Cohesin subunit RAD21: From biology to disease. Cheng H; Zhang N; Pati D Gene; 2020 Oct; 758():144966. PubMed ID: 32687945 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Minor A; Shinawi M; Hogue JS; Vineyard M; Hamlin DR; Tan C; Donato K; Wysinger L; Botes S; Das S; Del Gaudio D Gene; 2014 Mar; 537(2):279-84. PubMed ID: 24378232 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. 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]
15. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Deardorff MA; Kaur M; Yaeger D; Rampuria A; Korolev S; Pie J; Gil-Rodríguez C; Arnedo M; Loeys B; Kline AD; Wilson M; Lillquist K; Siu V; Ramos FJ; Musio A; Jackson LS; Dorsett D; Krantz ID Am J Hum Genet; 2007 Mar; 80(3):485-94. PubMed ID: 17273969 [TBL] [Abstract][Full Text] [Related]
16. Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome. Mannini L; C Lamaze F; Cucco F; Amato C; Quarantotti V; Rizzo IM; Krantz ID; Bilodeau S; Musio A Sci Rep; 2015 Nov; 5():16803. PubMed ID: 26581180 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Cohesinopathies of a feather flock together. Skibbens RV; Colquhoun JM; Green MJ; Molnar CA; Sin DN; Sullivan BJ; Tanzosh EE PLoS Genet; 2013; 9(12):e1004036. PubMed ID: 24367282 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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] [Next] [New Search]