BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

381 related articles for article (PubMed ID: 18798846)

  • 1. Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.
    Gervasini C; Pfundt R; Castronovo P; Russo S; Roversi G; Masciadri M; Milani D; Zampino G; Selicorni A; Schoenmakers EF; Larizza L
    Clin Genet; 2008 Dec; 74(6):531-8. PubMed ID: 18798846
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
    Borck G; Zarhrate M; Bonnefont JP; Munnich A; Cormier-Daire V; Colleaux L
    Hum Mutat; 2007 Feb; 28(2):205-6. PubMed ID: 17221863
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
    Musio A; Selicorni A; Focarelli ML; Gervasini C; Milani D; Russo S; Vezzoni P; Larizza L
    Nat Genet; 2006 May; 38(5):528-30. PubMed ID: 16604071
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.
    Gervasini C; Parenti I; Picinelli C; Azzollini J; Masciadri M; Cereda A; Selicorni A; Russo S; Finelli P; Larizza L
    Eur J Med Genet; 2013 Mar; 56(3):138-43. PubMed ID: 23313159
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
    Baquero-Montoya C; Gil-Rodríguez MC; Hernández-Marcos M; Teresa-Rodrigo ME; Vicente-Gabas A; Bernal ML; Casale CH; Bueno-Lozano G; Bueno-Martínez I; Queralt E; Villa O; Hernando-Davalillo C; Armengol L; Gómez-Puertas P; Puisac B; Selicorni A; Ramos FJ; Pié J
    Eur J Med Genet; 2014 Sep; 57(9):503-9. PubMed ID: 24874887
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cohesinopathies: One ring, many obligations.
    McNairn AJ; Gerton JL
    Mutat Res; 2008 Dec; 647(1-2):103-11. PubMed ID: 18786550
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?
    Castronovo P; Delahaye-Duriez A; Gervasini C; Azzollini J; Minier F; Russo S; Masciadri M; Selicorni A; Verloes A; Larizza L
    Clin Genet; 2010 Dec; 78(6):560-4. PubMed ID: 20331678
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.
    Hoppman-Chaney N; Jang JS; Jen J; Babovic-Vuksanovic D; Hodge JC
    Am J Med Genet A; 2012 Jan; 158A(1):193-8. PubMed ID: 22106055
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 20.