Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies

Por Kaur, Kulvinder, Ragge, Nicola K., Ragoussis, Jiannis
Publicado em 2009

Parent-of-origin effects in SOX2 anophthalmia syndrome

Por Osborne, Robert J., Kurinczuk, Jennifer J., Ragge, Nicola K.
Publicado em 2011

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies

Por den Hollander, Anneke I, Biyanwila, Janisha, Kovach, Peter, Bardakjian, Tanya, Traboulsi, Elias I, Ragge, Nicola K, Schneider, Adele, Malicki, Jarema
Publicado em 2010

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

Por Gupta, Asheeta, Colmenero, Isabel, Ragge, Nicola K., Blakely, Emma L., He, Langping, McFarland, Robert, Taylor, Robert W., Vogt, Julie, Milford, David V.
Publicado no BMC Res Notes (2016)

Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy

Por Kantarci, Sibel, Ragge, Nicola K., Thomas, N. Simon, Robinson, David O., Noonan, Kristin M., Russell, Meaghan K., Donnai, Dian, Raymond, F. Lucy, Walsh, Christopher A., Donahoe, Patricia K., Pober, Barbara R.
Publicado em 2008

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

Por Gestri, Gaia, Osborne, Robert J., Wyatt, Alexander W., Gerrelli, Dianne, Gribble, Susan, Stewart, Helen, Fryer, Alan, Bunyan, David J., Prescott, Katrina, Collin, J. Richard O., Fitzgerald, Tomas, Robinson, David, Carter, Nigel P., Wilson, Stephen W., Ragge, Nicola K.
Publicado em 2009

Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

Por Bakrania, Preeti, Efthymiou, Maria, Klein, Johannes C., Salt, Alison, Bunyan, David J., Wyatt, Alex, Ponting, Chris P., Martin, Angela, Williams, Steven, Lindley, Victoria, Gilmore, Joanne, Restori, Marie, Robson, Anthony G., Neveu, Magella M., Holder, Graham E., Collin, J Richard O., Robinson, David O., Farndon, Peter, Johansen-Berg, Heidi, Gerrelli, Dianne, Ragge, Nicola K.
Publicado em 2008

Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Por Ragge, Nicola K., Brown, Alison G., Poloschek, Charlotte M., Lorenz, Birgit, Henderson, R. Alex, Clarke, Michael P., Russell-Eggitt, Isabelle, Fielder, Alistair, Gerrelli, Dianne, Martinez-Barbera, Juan Pedro, Ruddle, Piers, Hurst, Jane, Collin, J. Richard O., Salt, Alison, Cooper, Simon T., Thompson, Pamela J., Sisodiya, Sanjay M., Williamson, Kathleen A., FitzPatrick, David R., Heyningen, Veronica van, Hanson, Isabel M.
Publicado em 2005