305 related articles for article (PubMed ID: 25655089)
21. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M; Faour KNW; Shimamura A; Grimes G; Kao EM; Denhoff ER; Blatnik A; Ben-Isvy D; Wang L; Helm BM; Firth H; Breman AM; Bijlsma EK; Iwata-Otsubo A; de Ravel TJL; Fusaro V; Fryer A; Nykamp K; Stühn LG; Haack TB; Korenke GC; Constantinou P; Bujakowska KM; Low KJ; Place E; Humberson J; Napier MP; Hoffman J; Juusola J; Deardorff MA; Shao W; Rockowitz S; Krantz I; Kaur M; Raible S; Dortenzio V; Kliesch S; Singer-Berk M; Groopman E; DiTroia S; Ballal S; Srivastava S; Rothfelder K; Biskup S; Rzasa J; Kerkhof J; McConkey H; Sadikovic B; Hilton S; Banka S; Tüttelmann F; Conrad DF; O'Donnell-Luria A; Talkowski ME; FitzPatrick DR; Boone PM
HGG Adv; 2024 Apr; 5(2):100273. PubMed ID: 38297832
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Cornelia de Lange syndrome.
Liu J; Baynam G
Adv Exp Med Biol; 2010; 685():111-23. PubMed ID: 20687500
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in
Li R; Tian B; Liang H; Chen M; Yang H; Wang L; Pan H; Zhu H
Front Endocrinol (Lausanne); 2021; 12():604500. PubMed ID: 34659104
[TBL] [Abstract][Full Text] [Related]
27. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
Ratajska M; Wierzba J; Pehlivan D; Xia Z; Brundage EK; Cheung SW; Stankiewicz P; Lupski JR; Limon J
Eur J Med Genet; 2010; 53(6):378-82. PubMed ID: 20727427
[TBL] [Abstract][Full Text] [Related]
28. A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.
Wagner VF; Hillman PR; Britt AD; Ray JW; Farach LS
Am J Med Genet A; 2019 May; 179(5):852-856. PubMed ID: 30806031
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.
Liu C; Li X; Cui J; Dong R; Lv Y; Wang D; Zhang H; Li X; Li Z; Ma J; Liu Y; Gai Z
Mol Genet Genomic Med; 2020 Oct; 8(10):e1471. PubMed ID: 32856424
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
Schoumans J; Wincent J; Barbaro M; Djureinovic T; Maguire P; Forsberg L; Staaf J; Thuresson AC; Borg A; Nordgren A; Malm G; Anderlid BM
Eur J Hum Genet; 2007 Feb; 15(2):143-9. PubMed ID: 17106445
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders.
Deardorff MA; Porter NJ; Christianson DW
Protein Sci; 2016 Nov; 25(11):1965-1976. PubMed ID: 27576763
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.
Lei Z; Song X; Zheng X; Wang Y; Wang Y; Wu Z; Fan T; Dong S; Cao H; Zhao Y; Xia Z; Gao L; Shang Q; Mei S
Mol Genet Genomic Med; 2024 May; 12(5):e2447. PubMed ID: 38733165
[TBL] [Abstract][Full Text] [Related]
37. Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
Wenger TL; Chow P; Randle SC; Rosen A; Birgfeld C; Wrede J; Javid P; King D; Manh V; Hing AV; Albers E
Am J Med Genet A; 2017 Feb; 173(2):414-420. PubMed ID: 28102598
[TBL] [Abstract][Full Text] [Related]
38. Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
Russo S; Masciadri M; Gervasini C; Azzollini J; Cereda A; Zampino G; Haas O; Scarano G; Di Rocco M; Finelli P; Tenconi R; Selicorni A; Larizza L
Eur J Hum Genet; 2012 Jul; 20(7):734-41. PubMed ID: 22353942
[TBL] [Abstract][Full Text] [Related]
39. 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]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
