BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

392 related articles for article (PubMed ID: 16799922)

  • 1. 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]  

  • 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. 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]  

  • 5. 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]  

  • 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. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. A Novel de Novo Variant in 5' UTR of the
    Chen Y; Chen Q; Yuan K; Zhu J; Fang Y; Yan Q; Wang C
    Genes (Basel); 2022 Apr; 13(5):. PubMed ID: 35627125
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.