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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

De Lange Syndrome

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  1. Pharmacological treatment of aggressive behavior and emesis in the Cornelia de Lange Syndrome. Andrasik, F., Ollendick, T.H., Turner, S.M., Hughes, J.R. J. Nerv. Ment. Dis. (1979) [Pubmed]
  2. Microcephalic dwarfism with associated low amniotic fluid 5-hydroxyindole-3-acetic acid (5HIAA). Report of a case of Cornelia de Lange syndrome. Lacourt, G.C., Arendt, J., Cox, J., Béguin, F. Helvetica paediatrica acta. (1977) [Pubmed]
  3. Barrett's esophagus in a child with de Lange syndrome: report of one case. Pei, R.S., Lin, C.C., Mak, S.C., Chi, C.S., Chou, G. Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi. (2000) [Pubmed]
  4. A Korean case of Cornelia de Lange syndrome. Kim, I.T., Park, J.W., Choi, W.C. Korean journal of ophthalmology : KJO. (2005) [Pubmed]
  5. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Musio, A., Selicorni, A., Focarelli, M.L., Gervasini, C., Milani, D., Russo, S., Vezzoni, P., Larizza, L. Nat. Genet. (2006) [Pubmed]
  6. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Gillis, L.A., McCallum, J., Kaur, M., DeScipio, C., Yaeger, D., Mariani, A., Kline, A.D., Li, H.H., Devoto, M., Jackson, L.G., Krantz, I.D. Am. J. Hum. Genet. (2004) [Pubmed]
  7. Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes. Smith, M., Herrell, S., Lusher, M., Lako, L., Simpson, C., Wiestner, A., Skoda, R., Ireland, M., Strachan, T. Hum. Genet. (1999) [Pubmed]
  8. Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome. Hayashi, M., Sakamoto, K., Kurata, K., Nagata, J., Satoh, J., Morimatsu, Y. Acta Neuropathol. (1996) [Pubmed]
  9. Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome. Cunniff, C., Curry, C.J., Carey, J.C., Graham, J.M., Williams, C.A., Stengel-Rutkowski, S., Lüttgen, S., Meinecke, P. Am. J. Med. Genet. (1993) [Pubmed]
  10. Respiratory arrest after a caudal injection of bupivacaine. Lumb, A.B., Carli, F. Anaesthesia. (1989) [Pubmed]
  11. Behavioural dimensions of the de Lange syndrome: attribution of mystique and a question of cause and effect. Singh, N.N. Journal of mental deficiency research. (1983) [Pubmed]
  12. Cornelia de Lange's syndrome. Report of a case associating pulmonary hypoplasia and elevated thyroxine-binding globulin. Castro-Magaña, M., Hernández-Pérez, E. Cutis; cutaneous medicine for the practitioner. (1980) [Pubmed]
  13. Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome. Marino, T., Wheeler, P.G., Simpson, L.L., Craigo, S.D., Bianchi, D.W. Prenat. Diagn. (2002) [Pubmed]
  14. Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. Aitken, D.A., Ireland, M., Berry, E., Crossley, J.A., Macri, J.N., Burn, J., Connor, J.M. Prenat. Diagn. (1999) [Pubmed]
  15. Low first-trimester pregnancy-associated plasma protein-A and Cornelia de Lange syndrome. Arbuzova, S., Nikolenko, M., Krantz, D., Hallahan, T., Macri, J. Prenat. Diagn. (2003) [Pubmed]
  16. 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, N.P., Munnich, A., Colleaux, L., Cormier-Daire, V. J. Med. Genet. (2004) [Pubmed]
  17. Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome? Halal, F., Silver, K. Am. J. Med. Genet. (1992) [Pubmed]
  18. Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes. Silahtaroglu, A.N., Tümer, Z., Kristensen, T., Sottrup-Jensen, L., Tommerup, N. Cytogenet. Cell Genet. (1993) [Pubmed]
  19. Gastroesophageal dysfunction in Brachmann-de Lange syndrome. Rosenbach, Y., Zahavi, I., Dinari, G. Am. J. Med. Genet. (1992) [Pubmed]
  20. Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome. Butler, M.G., Dahir, G.A., Gale, D.D., Meaney, F.J. Am. J. Med. Genet. (1993) [Pubmed]
  21. Neonatal-onset panhypopituitarism in a girl with Brachmann-De Lange syndrome. Tonini, G., Marinoni, S. Am. J. Med. Genet. (1990) [Pubmed]
  22. Auditory brainstem responses in children with Cornelia de Lange syndrome. Kaga, K., Tamai, F., Kitazumi, E., Kodama, K. Int. J. Pediatr. Otorhinolaryngol. (1995) [Pubmed]
  23. Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome. Jelsema, R.D., Isada, N.B., Kazzi, N.J., Sargent, K., Harrison, M.R., Johnson, M.P., Evans, M.I. Am. J. Med. Genet. (1993) [Pubmed]
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