362 related articles for article (PubMed ID: 29531005)
21. 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]
22. Characterization of limb differences in children with Cornelia de Lange Syndrome.
Mehta D; Vergano SA; Deardorff M; Aggarwal S; Barot A; Johnson DM; Miller NF; Noon SE; Kaur M; Jackson L; Krantz ID
Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):155-62. PubMed ID: 27120260
[TBL] [Abstract][Full Text] [Related]
23. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.
Woods SA; Robinson HB; Kohler LJ; Agamanolis D; Sterbenz G; Khalifa M
Am J Med Genet A; 2014 Jan; 164A(1):251-8. PubMed ID: 24352918
[TBL] [Abstract][Full Text] [Related]
24. A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Nizon M; Henry M; Michot C; Baumann C; Bazin A; Bessières B; Blesson S; Cordier-Alex MP; David A; Delahaye-Duriez A; Delezoïde AL; Dieux-Coeslier A; Doco-Fenzy M; Faivre L; Goldenberg A; Layet V; Loget P; Marlin S; Martinovic J; Odent S; Pasquier L; Plessis G; Prieur F; Putoux A; Rio M; Testard H; Bonnefont JP; Cormier-Daire V
Clin Genet; 2016 May; 89(5):584-9. PubMed ID: 26701315
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. [Cornelia de Lange syndrome: report of a case and the review of literature on 17 cases].
Hei MY; Chen J; Wu LQ; Yu B; Tan YJ; Zhao LL
Zhonghua Er Ke Za Zhi; 2012 Aug; 50(8):606-11. PubMed ID: 23158739
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. 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]
30. Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.
Oliveira J; Dias C; Redeker E; Costa E; Silva J; Reis Lima M; den Dunnen JT; Santos R
Hum Mutat; 2010 Nov; 31(11):1216-22. PubMed ID: 20824775
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
Pehlivan D; Hullings M; Carvalho CM; Gonzaga-Jauregui CG; Loy E; Jackson LG; Krantz ID; Deardorff MA; Lupski JR
Genet Med; 2012 Mar; 14(3):313-22. PubMed ID: 22241092
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. De novo
Thanh DC; Ngoc CTB; Nguyen NL; Vu CD; Tung NV; Nguyen HH
Medicina (Kaunas); 2020 Feb; 56(2):. PubMed ID: 32074972
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Novel mosaic variants in two patients with Cornelia de Lange syndrome.
Pozojevic J; Parenti I; Graul-Neumann L; Ruiz Gil S; Watrin E; Wendt KS; Werner R; Strom TM; Gillessen-Kaesbach G; Kaiser FJ
Eur J Med Genet; 2018 Nov; 61(11):680-684. PubMed ID: 29155047
[TBL] [Abstract][Full Text] [Related]
38. Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
Moss J; Penhallow J; Ansari M; Barton S; Bourn D; FitzPatrick DR; Goodship J; Hammond P; Roberts C; Welham A; Oliver C
Am J Med Genet A; 2017 Jun; 173(6):1566-1574. PubMed ID: 28425213
[TBL] [Abstract][Full Text] [Related]
39. Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Teresa-Rodrigo ME; Eckhold J; Puisac B; Pozojevic J; Parenti I; Baquero-Montoya C; Gil-Rodríguez MC; Braunholz D; Dalski A; Hernández-Marcos M; Ayerza A; Bernal ML; Ramos FJ; Wieczorek D; Gillessen-Kaesbach G; Pié J; Kaiser FJ
Biomed Res Int; 2016; 2016():8742939. PubMed ID: 26925417
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]