Gene Review:
NIPBL - Nipped-B homolog (Drosophila)
Homo sapiens
Synonyms:
CDLS, CDLS1, DKFZp434L1319, Delangin, FLJ11203, ...
- 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)
- Ophthalmologic findings in the Cornelia de Lange Syndrome. Wygnanski-Jaffe, T., Shin, J., Perruzza, E., Abdolell, M., Jackson, L.G., Levin, A.V. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus. (2005)
- Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. Strachan, T. Curr. Opin. Genet. Dev. (2005)
- Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation. Deardorff, M.A., Kaur, M., Yaeger, D., Rampuria, A., Korolev, S., Pie, J., Gil-Rodriguez, C., Arnedo, M., Loeys, B., Kline, A.D., Wilson, M., Lillquist, K., Siu, V., Ramos, F.J., Musio, A., Jackson, L.S., Dorsett, D., Krantz, I.D. Am. J. Hum. Genet. (2007)
- Coordinated Requirements of Human Topo II and Cohesin for Metaphase Centromere Alignment under Mad2-dependent Spindle Checkpoint Surveillance. Toyoda, Y., Yanagida, M. Mol. Biol. Cell (2006)
- 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, A.C., Borg, A., Nordgren, A., Malm, G., Anderlid, B.M. Eur. J. Hum. Genet. (2007)
- The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. Lechner, M.S., Schultz, D.C., Negorev, D., Maul, G.G., Rauscher, F.J. Biochem. Biophys. Res. Commun. (2005)
- 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)
- Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. Nallasamy, S., Kherani, F., Yaeger, D., McCallum, J., Kaur, M., Devoto, M., Jackson, L.G., Krantz, I.D., Young, T.L. Arch. Ophthalmol. (2006)
- Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. Bhuiyan, Z.A., Klein, M., Hammond, P., van Haeringen, A., Mannens, M.M., Van Berckelaer-Onnes, I., Hennekam, R.C. J. Med. Genet. (2006)
- Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. DeScipio, C., Kaur, M., Yaeger, D., Innis, J.W., Spinner, N.B., Jackson, L.G., Krantz, I.D. Am. J. Med. Genet. A (2005)
- 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, J.P., Munnich, A., Cormier-Daire, V., Colleaux, L. Hum. Mutat. (2006)
- Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome. Niu, D.M., Huang, J.Y., Li, H.Y., Liu, K.M., Wang, S.T., Chen, Y.J., Udaka, T., Izumi, K., Kosaki, K. Prenat. Diagn. (2006)