172 related articles for article (PubMed ID: 30874362)
1. Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018.
Kline AD; Krantz ID; Bando M; Shirahige K; Chea S; Sakata T; Rao S; Dorsett D; Singh VP; Gerton JL; Horsfield JA; Calof AL; Katz O; Grados M; Raible S; Barañano K; Lyon G; Musio A; Carrico CS; Clemens DK; Caudill P; Massa V; McGill BE; Dommestrup A; O'Connor J; Haaland RE
Am J Med Genet A; 2019 Jun; 179(6):1080-1090. PubMed ID: 30874362
[TBL] [Abstract][Full Text] [Related]
2. Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
Kline AD; Krantz ID; Deardorff MA; Shirahige K; Dorsett D; Gerton JL; Wu M; Mehta D; Mills JA; Carrico CS; Noon S; Herrera PS; Horsfield JA; Bettale C; Morgan J; Huisman SA; Moss J; McCleery J; Grados M; Hansen BD; Srivastava S; Taylor-Snell E; Kerr LM; Katz O; Calof AL; Musio A; Egense A; Haaland RE
Am J Med Genet A; 2017 May; 173(5):1172-1185. PubMed ID: 28190301
[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. 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]
5. 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]
6. Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020.
Oliver C; Groves L; Hansen BD; Salehi M; Kheradmand S; Carrico CS; Caudill P; Mattingly M; Dorsett D; Chea S; Singh VP; Krantz ID; Huisman S; Deardorff MA; Kline AD
Am J Med Genet A; 2022 Mar; 188(3):1005-1014. PubMed ID: 34877788
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
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. Cornelia de Lange Syndrome.
Deschamps GN
Neonatal Netw; 2022 May; 41(3):145-149. PubMed ID: 35644361
[TBL] [Abstract][Full Text] [Related]
16. Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome.
Boudaoud I; Fournier É; Baguette A; Vallée M; Lamaze FC; Droit A; Bilodeau S
Genetics; 2017 Sep; 207(1):139-151. PubMed ID: 28679547
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. A novel mosaic variant on
Gonzalez Garcia A; Malone J; Li H
Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32532882
[TBL] [Abstract][Full Text] [Related]
20. Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome.
Garcia P; Fernandez-Hernandez R; Cuadrado A; Coca I; Gomez A; Maqueda M; Latorre-Pellicer A; Puisac B; Ramos FJ; Sandoval J; Esteller M; Mosquera JL; Rodriguez J; Pié J; Losada A; Queralt E
Nat Commun; 2021 Jul; 12(1):4551. PubMed ID: 34315879
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
