These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

184 related articles for article (PubMed ID: 16958143)

  • 1. Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome.
    Niu DM; Huang JY; Li HY; Liu KM; Wang ST; Chen YJ; Udaka T; Izumi K; Kosaki K
    Prenat Diagn; 2006 Nov; 26(11):1054-7. PubMed ID: 16958143
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. High rate of mosaicism in individuals with Cornelia de Lange syndrome.
    Huisman SA; Redeker EJ; Maas SM; Mannens MM; Hennekam RC
    J Med Genet; 2013 May; 50(5):339-44. PubMed ID: 23505322
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation.
    Hosokawa S; Takahashi N; Kitajima H; Nakayama M; Kosaki K; Okamoto N
    Congenit Anom (Kyoto); 2010 Jun; 50(2):129-32. PubMed ID: 20156239
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings.
    Chong K; Keating S; Hurst S; Summers A; Berger H; Seaward G; Martin N; Friedberg T; Chitayat D
    Prenat Diagn; 2009 May; 29(5):489-94. PubMed ID: 19242925
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.
    Mei L; Liang D; Huang Y; Pan Q; Wu L
    Gene; 2015 Jan; 555(2):476-80. PubMed ID: 25447906
    [TBL] [Abstract][Full Text] [Related]  

  • 19. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.
    Borck G; Redon R; Sanlaville D; Rio M; Prieur M; Lyonnet S; Vekemans M; Carter NP; Munnich A; Colleaux L; Cormier-Daire V
    J Med Genet; 2004 Dec; 41(12):e128. PubMed ID: 15591270
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.