276 related articles for article (PubMed ID: 32222533)
1. The multiple facets of the SMC1A gene.
Musio A
Gene; 2020 Jun; 743():144612. PubMed ID: 32222533
[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. 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]
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. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Cornelia de Lange syndrome.
Liu J; Baynam G
Adv Exp Med Biol; 2010; 685():111-23. PubMed ID: 20687500
[TBL] [Abstract][Full Text] [Related]
11. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.
Jansen S; Kleefstra T; Willemsen MH; de Vries P; Pfundt R; Hehir-Kwa JY; Gilissen C; Veltman JA; de Vries BB; Vissers LE
Clin Genet; 2016 Nov; 90(5):413-419. PubMed ID: 26752331
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.
Gervasini C; Picinelli C; Azzollini J; Rusconi D; Masciadri M; Cereda A; Marzocchi C; Zampino G; Selicorni A; Tenconi R; Russo S; Larizza L; Finelli P
BMC Med Genet; 2013 Apr; 14():41. PubMed ID: 23551878
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
Lebrun N; Lebon S; Jeannet PY; Jacquemont S; Billuart P; Bienvenu T
Am J Med Genet A; 2015 Dec; 167A(12):3076-81. PubMed ID: 26358754
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]