408 related articles for article (PubMed ID: 20727427)
21. NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
Pehlivan D; Hullings M; Carvalho CM; Gonzaga-Jauregui CG; Loy E; Jackson LG; Krantz ID; Deardorff MA; Lupski JR
Genet Med; 2012 Mar; 14(3):313-22. PubMed ID: 22241092
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. 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]
25. 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]
26. Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome.
Wulffaert J; van Berckelaer-Onnes I; Kroonenberg P; Scholte E; Bhuiyan Z; Hennekam R
J Intellect Disabil Res; 2009 Jul; 53(7):604-19. PubMed ID: 19522789
[TBL] [Abstract][Full Text] [Related]
27. In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.
Hoppman-Chaney N; Jang JS; Jen J; Babovic-Vuksanovic D; Hodge JC
Am J Med Genet A; 2012 Jan; 158A(1):193-8. PubMed ID: 22106055
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Cornelia de Lange syndrome.
Liu J; Baynam G
Adv Exp Med Biol; 2010; 685():111-23. PubMed ID: 20687500
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. 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]
32. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B; Pehlivan D; Karaca E; Patel N; Charng WL; Gambin T; Gonzaga-Jauregui C; Sutton VR; Yesil G; Bozdogan ST; Tos T; Koparir A; Koparir E; Beck CR; Gu S; Aslan H; Yuregir OO; Al Rubeaan K; Alnaqeb D; Alshammari MJ; Bayram Y; Atik MM; Aydin H; Geckinli BB; Seven M; Ulucan H; Fenercioglu E; Ozen M; Jhangiani S; Muzny DM; Boerwinkle E; Tuysuz B; Alkuraya FS; Gibbs RA; Lupski JR
J Clin Invest; 2015 Feb; 125(2):636-51. PubMed ID: 25574841
[TBL] [Abstract][Full Text] [Related]
33. Cohesinopathies: One ring, many obligations.
McNairn AJ; Gerton JL
Mutat Res; 2008 Dec; 647(1-2):103-11. PubMed ID: 18786550
[TBL] [Abstract][Full Text] [Related]
34. Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling.
Meshram GG; Kaur N; Hura KS
Med Arch; 2018 Oct; 72(4):297-299. PubMed ID: 30515000
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. High rate of mosaicism in individuals with Cornelia de Lange syndrome.
Huisman SA; Redeker EJ; Maas SM; Mannens MM; Hennekam RC
J Med Genet; 2013 May; 50(5):339-44. PubMed ID: 23505322
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.
Jang MA; Lee CW; Kim JK; Ki CS
Ann Lab Med; 2015 Nov; 35(6):639-42. PubMed ID: 26354354
[TBL] [Abstract][Full Text] [Related]
40. Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.
Panarotto M; Davidson IF; Litos G; Schleiffer A; Peters JM
Proc Natl Acad Sci U S A; 2022 May; 119(18):e2201029119. PubMed ID: 35476527
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
