BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

607 related articles for article (PubMed ID: 16604071)

  • 1. 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]  

  • 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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation.
    Strachan T
    Curr Opin Genet Dev; 2005 Jun; 15(3):258-64. PubMed ID: 15917200
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.
    Bhuiyan ZA; Zilfalil BA; Hennekam RC
    Singapore Med J; 2006 Aug; 47(8):724-7. PubMed ID: 16865217
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.
    Mannini L; Menga S; Musio A
    Hum Mutat; 2010 Jun; 31(6):623-30. PubMed ID: 20513141
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
    Liu J; Feldman R; Zhang Z; Deardorff MA; Haverfield EV; Kaur M; Li JR; Clark D; Kline AD; Waggoner DJ; Das S; Jackson LG; Krantz ID
    Hum Mutat; 2009 Nov; 30(11):1535-42. PubMed ID: 19701948
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 31.