281 related articles for article (PubMed ID: 23505322)
21. 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]
22. 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]
23. 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]
24. Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.
Wierzba J; Gil-Rodríguez MC; Polucha A; Puisac B; Arnedo M; Teresa-Rodrigo ME; Winnicka D; Hegardt FG; Ramos FJ; Limon J; Pié J
BMC Med Genet; 2012 Jun; 13():43. PubMed ID: 22676896
[TBL] [Abstract][Full Text] [Related]
25. Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.
Borck G; Zarhrate M; Cluzeau C; Bal E; Bonnefont JP; Munnich A; Cormier-Daire V; Colleaux L
Hum Mutat; 2006 Aug; 27(8):731-5. PubMed ID: 16799922
[TBL] [Abstract][Full Text] [Related]
26. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Latorre-Pellicer A; Gil-Salvador M; Parenti I; Lucia-Campos C; Trujillano L; Marcos-Alcalde I; Arnedo M; Ascaso Á; Ayerza-Casas A; Antoñanzas-Pérez R; Gervasini C; Piccione M; Mariani M; Weber A; Kanber D; Kuechler A; Munteanu M; Khuller K; Bueno-Lozano G; Puisac B; Gómez-Puertas P; Selicorni A; Kaiser FJ; Ramos FJ; Pié J
Sci Rep; 2021 Jul; 11(1):15459. PubMed ID: 34326454
[TBL] [Abstract][Full Text] [Related]
27. Germline mosaicism in Cornelia de Lange syndrome.
Slavin TP; Lazebnik N; Clark DM; Vengoechea J; Cohen L; Kaur M; Konczal L; Crowe CA; Corteville JE; Nowaczyk MJ; Byrne JL; Jackson LG; Krantz ID
Am J Med Genet A; 2012 Jun; 158A(6):1481-5. PubMed ID: 22581668
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. 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]
31. 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]
32. 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]
33. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Aoi H; Mizuguchi T; Ceroni JR; Kim VEH; Furquim I; Honjo RS; Iwaki T; Suzuki T; Sekiguchi F; Uchiyama Y; Azuma Y; Hamanaka K; Koshimizu E; Miyatake S; Mitsuhashi S; Takata A; Miyake N; Takeda S; Itakura A; Bertola DR; Kim CA; Matsumoto N
J Hum Genet; 2019 Oct; 64(10):967-978. PubMed ID: 31337854
[TBL] [Abstract][Full Text] [Related]
34. Special cases in Cornelia de Lange syndrome: The Spanish experience.
Pié J; Puisac B; Hernández-Marcos M; Teresa-Rodrigo ME; Gil-Rodríguez M; Baquero-Montoya C; Ramos-Cáceres M; Bernal M; Ayerza-Casas A; Bueno I; Gómez-Puertas P; Ramos FJ
Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):198-205. PubMed ID: 27164022
[TBL] [Abstract][Full Text] [Related]
35. Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.
Krawczynska N; Wierzba J; Jasiecki J; Wasag B
BMC Med Genet; 2019 Jan; 20(1):1. PubMed ID: 30606125
[TBL] [Abstract][Full Text] [Related]
36. Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.
Kuzniacka A; Wierzba J; Ratajska M; Lipska BS; Koczkowska M; Malinowska M; Limon J
J Appl Genet; 2013 Feb; 54(1):27-33. PubMed ID: 23254390
[TBL] [Abstract][Full Text] [Related]
37. Mosaic Intronic
Krawczynska N; Kuzniacka A; Wierzba J; Parenti I; Kaiser FJ; Wasag B
Front Genet; 2018; 9():255. PubMed ID: 30057591
[TBL] [Abstract][Full Text] [Related]
38. Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation.
Weichert J; Schröer A; Beyer DA; Gillessen-Kaesbach G; Stefanova I
J Matern Fetal Neonatal Med; 2011 Jul; 24(7):978-82. PubMed ID: 21338332
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.
Zuin J; Casa V; Pozojevic J; Kolovos P; van den Hout MCGN; van Ijcken WFJ; Parenti I; Braunholz D; Baron Y; Watrin E; Kaiser FJ; Wendt KS
PLoS Genet; 2017 Dec; 13(12):e1007137. PubMed ID: 29261648
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
