Nürnberg, Gudrun

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., FitzPatrick, D. R., Nürnberg, G., Brasch, F., Schirmer-Zimmermann, H., Tolmie, J. L., Chitayat, D., et al. (2007) · The American Journal of Human Genetics

Congenital limb and hand anomaliesOcular Disorders and Treatments

Cited by 361

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

Bergmann, C., Fliegauf, M., Brüchle, N. O., Frank, V., Olbrich, H., Kirschner, J., Schermer, B., Schmedding, I., Kispert, A., Kränzlin, B., et al. (2008) · The American Journal of Human Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 324

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Kurth, I., Pamminger, T., Hennings, J. C., Soehendra, D., Huebner, A. K., Rotthier, A., Baets, J., Senderek, J., Topaloglu, H., Farrell, S. A., et al. (2009) · Nature Genetics

Hereditary Neurological DisordersPain Mechanisms and Treatments

Cited by 260

LRP4 mutations alter Wnt/β-catenin signaling and cause limb and kidney malformations in Cenani–Lenz syndrome

Li, Y., Pawlik, B., Elcioglu, N., Aglan, M., Kayserili, H., Yigit, G., Percin, F., Goodman, F., Nürnberg, G., Cenani, A., et al. (2010) · The American Journal of Human Genetics

Congenital limb and hand anomaliesWnt/β-catenin signaling in development and cancer

Cited by 171

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

Beetz, C., Johnson, A., Schuh, A. L., Thakur, S., Varga, R.-E., Fothergill, T., Hertel, N., Bomba-Warczak, E., Thiele, H., Nürnberg, G., et al. (2013) · Proceedings of the National Academy of Sciences

Hereditary Neurological DisordersCellular transport and secretion

Cited by 106

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

Bendon, C. L., Fenwick, A. L., Hurst, J. A., Nürnberg, G., Nürnberg, P., Wall, S. A., Wilkie, A. O., & Johnson, D. (2012) · BMC Medical Genetics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 28