250 related articles for article (PubMed ID: 19701948)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.
Hei M; Gao X; Wu L
BMC Pediatr; 2018 Feb; 18(1):64. PubMed ID: 29452578
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
Liu J; Zhang Z; Bando M; Itoh T; Deardorff MA; Clark D; Kaur M; Tandy S; Kondoh T; Rappaport E; Spinner NB; Vega H; Jackson LG; Shirahige K; Krantz ID
PLoS Biol; 2009 May; 7(5):e1000119. PubMed ID: 19468298
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.
Gervasini C; Parenti I; Picinelli C; Azzollini J; Masciadri M; Cereda A; Selicorni A; Russo S; Finelli P; Larizza L
Eur J Med Genet; 2013 Mar; 56(3):138-43. PubMed ID: 23313159
[TBL] [Abstract][Full Text] [Related]
20. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M; Blair J; Devkota B; Fortunato S; Clark D; Lawrence A; Kim J; Do W; Semeo B; Katz O; Mehta D; Yamamoto N; Schindler E; Al Rawi Z; Wallace N; Wilde JJ; McCallum J; Liu J; Xu D; Jackson M; Rentas S; Tayoun AA; Zhe Z; Abdul-Rahman O; Allen B; Angula MA; Anyane-Yeboa K; Argente J; Arn PH; Armstrong L; Basel-Salmon L; Baynam G; Bird LM; Bruegger D; Ch'ng GS; Chitayat D; Clark R; Cox GF; Dave U; DeBaere E; Field M; Graham JM; Gripp KW; Greenstein R; Gupta N; Heidenreich R; Hoffman J; Hopkin RJ; Jones KL; Jones MC; Kariminejad A; Kogan J; Lace B; Leroy J; Lynch SA; McDonald M; Meagher K; Mendelsohn N; Micule I; Moeschler J; Nampoothiri S; Ohashi K; Powell CM; Ramanathan S; Raskin S; Roeder E; Rio M; Rope AF; Sangha K; Scheuerle AE; Schneider A; Shalev S; Siu V; Smith R; Stevens C; Tkemaladze T; Toimie J; Toriello H; Turner A; Wheeler PG; White SM; Young T; Loomes KM; Pipan M; Harrington AT; Zackai E; Rajagopalan R; Conlin L; Deardorff MA; McEldrew D; Pie J; Ramos F; Musio A; Kline AD; Izumi K; Raible SE; Krantz ID
Am J Med Genet A; 2023 Aug; 191(8):2113-2131. PubMed ID: 37377026
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]