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 *

240 related articles for article (PubMed ID: 15591270)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype.
    Egemen A; Ulger Z; Ozkinay F; Gulen F; Cogulu O
    Genet Couns; 2005; 16(1):27-30. PubMed ID: 15844775
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [Brachmann-de Lange syndrome in 16 of our patients].
    Pankau R; Johannson W; Meinecke P
    Monatsschr Kinderheilkd; 1990 Feb; 138(2):72-6. PubMed ID: 2320015
    [TBL] [Abstract][Full Text] [Related]  

  • 13. NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder.
    Ben-Asher E; Lancet D
    Isr Med Assoc J; 2004 Sep; 6(9):571-2. PubMed ID: 15373324
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 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. 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]  

  • 17. Chromosomal anomaly associated with Cornelia de Lange's syndrome.
    Szemere G; Godó B; Osváth P; Lehrner J; Pataki O
    Acta Paediatr Acad Sci Hung; 1972; 13(1):51-5. PubMed ID: 4652495
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome.
    Wulffaert J; van Berckelaer-Onnes I; Kroonenberg P; Scholte E; Bhuiyan Z; Hennekam R
    J Intellect Disabil Res; 2009 Jul; 53(7):604-19. PubMed ID: 19522789
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Chromosome abnormalities in a case of Cornelia De Lange syndrome (typus degenerativus amstedolamensis)].
    de Angelis P; Ventruto V
    Minerva Pediatr; 1976 Mar; 28(7):449-53. PubMed ID: 1004448
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.