BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

478 related articles for article (PubMed ID: 23313159)

  • 21. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.
    Minor A; Shinawi M; Hogue JS; Vineyard M; Hamlin DR; Tan C; Donato K; Wysinger L; Botes S; Das S; Del Gaudio D
    Gene; 2014 Mar; 537(2):279-84. PubMed ID: 24378232
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.
    Park HD; Ki CS; Kim JW; Kim WT; Kim JK
    Ann Clin Lab Sci; 2010; 40(1):20-5. PubMed ID: 20124326
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
    Selicorni A; Russo S; Gervasini C; Castronovo P; Milani D; Cavalleri F; Bentivegna A; Masciadri M; Domi A; Divizia MT; Sforzini C; Tarantino E; Memo L; Scarano G; Larizza L
    Clin Genet; 2007 Aug; 72(2):98-108. PubMed ID: 17661813
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.
    Bhuiyan ZA; Stewart H; Redeker EJ; Mannens MM; Hennekam RC
    Eur J Hum Genet; 2007 Apr; 15(4):505-8. PubMed ID: 17264868
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.
    Kaur M; Mehta D; Noon SE; Deardorff MA; Zhang Z; Krantz ID
    Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):163-70. PubMed ID: 27125329
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. 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]  

  • 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. 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]  

  • 33. Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.
    Braunholz D; Obieglo C; Parenti I; Pozojevic J; Eckhold J; Reiz B; Braenne I; Wendt KS; Watrin E; Vodopiutz J; Rieder H; Gillessen-Kaesbach G; Kaiser FJ
    Hum Mutat; 2015 Jan; 36(1):26-9. PubMed ID: 25196272
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
    Helgeson M; Keller-Ramey J; Knight Johnson A; Lee JA; Magner DB; Deml B; Deml J; Hu YY; Li Z; Donato K; Das S; Laframboise R; Tremblay S; Krantz I; Noon S; Hoganson G; Burton J; Schaaf CP; Del Gaudio D
    J Hum Genet; 2018 Mar; 63(3):349-356. PubMed ID: 29279609
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.
    Boyle MI; Jespersgaard C; Nazaryan L; Ravn K; Brøndum-Nielsen K; Bisgaard AM; Tümer Z
    Gene; 2015 Nov; 572(1):130-134. PubMed ID: 26164757
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
    Parenti I; Gervasini C; Pozojevic J; Graul-Neumann L; Azzollini J; Braunholz D; Watrin E; Wendt KS; Cereda A; Cittaro D; Gillessen-Kaesbach G; Lazarevic D; Mariani M; Russo S; Werner R; Krawitz P; Larizza L; Selicorni A; Kaiser FJ
    Clin Genet; 2016 Jan; 89(1):74-81. PubMed ID: 25652421
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 24.