Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus

Por Roberts, Neil A., Woolf, Adrian S., Stuart, Helen M., Thuret, Raphaël, McKenzie, Edward A., Newman, William G., Hilton, Emma N.
Publicado em 2014

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

Por Lennon, Rachel, Stuart, Helen M., Bierzynska, Agnieszka, Randles, Michael J., Kerr, Bronwyn, Hillman, Katherine A., Batra, Gauri, Campbell, Joanna, Storey, Helen, Flinter, Frances A., Koziell, Ania, Welsh, Gavin I., Saleem, Moin A., Webb, Nicholas J. A., Woolf, Adrian S.
Publicado no Pediatr Nephrol (2015)

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

Por Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betül, Reutter, Heiko, Draaken, Markus, Ludwig, Michael, Altmüller, Janine, Frommolt, Peter, Stuart, Helen M., Ranjzad, Parisa, Hanley, Neil A., Jennings, Rachel, Newman, William G., Wilcox, Duncan T., Thiel, Uwe, Schlingmann, Karl Peter, Beetz, Rolf, Hoyer, Peter F., Konrad, Martin, Schaefer, Franz, Nürnberg, Peter, Woolf, Adrian S.
Publicado em 2011

LRIG2 Mutations Cause Urofacial Syndrome

Por Stuart, Helen M., Roberts, Neil A., Burgu, Berk, Daly, Sarah B., Urquhart, Jill E., Bhaskar, Sanjeev, Dickerson, Jonathan E., Mermerkaya, Murat, Silay, Mesrur Selcuk, Lewis, Malcolm A., Olondriz, M. Beatriz Orive, Gener, Blanca, Beetz, Christian, Varga, Rita E., Gülpınar, Ömer, Süer, Evren, Soygür, Tarkan, Özçakar, Zeynep B., Yalçınkaya, Fatoş, Kavaz, Aslı, Bulum, Burcu, Gücük, Adnan, Yue, Wyatt W., Erdogan, Firat, Berry, Andrew, Hanley, Neil A., McKenzie, Edward A., Hilton, Emma N., Woolf, Adrian S., Newman, William G.
Publicado em 2013

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

Por Vivante, Asaf, Kleppa, Marc-Jens, Schulz, Julian, Kohl, Stefan, Sharma, Amita, Chen, Jing, Shril, Shirlee, Hwang, Daw-Yang, Weiss, Anna-Carina, Kaminski, Michael M., Shukrun, Rachel, Kemper, Markus J., Lehnhardt, Anja, Beetz, Rolf, Sanna-Cherchi, Simone, Verbitsky, Miguel, Gharavi, Ali G., Stuart, Helen M., Feather, Sally A., Goodship, Judith A., Goodship, Timothy H.J., Woolf, Adrian S., Westra, Sjirk J., Doody, Daniel P., Bauer, Stuart B., Lee, Richard S., Adam, Rosalyn M., Lu, Weining, Reutter, Heiko M., Kehinde, Elijah O., Mancini, Erika J., Lifton, Richard P., Tasic, Velibor, Lienkamp, Soeren S., Jüppner, Harald, Kispert, Andreas, Hildebrandt, Friedhelm
Publicado no Am J Hum Genet (2015)

Urinary Tract Effects of HPSE2 Mutations

Por Stuart, Helen M., Roberts, Neil A., Hilton, Emma N., McKenzie, Edward A., Daly, Sarah B., Hadfield, Kristen D., Rahal, Jeffery S., Gardiner, Natalie J., Tanley, Simon W., Lewis, Malcolm A., Sites, Emily, Angle, Brad, Alves, Cláudia, Lourenço, Teresa, Rodrigues, Márcia, Calado, Angelina, Amado, Marta, Guerreiro, Nancy, Serras, Inês, Beetz, Christian, Varga, Rita-Eva, Silay, Mesrur Selcuk, Darlow, John M., Dobson, Mark G., Barton, David E., Hunziker, Manuela, Puri, Prem, Feather, Sally A., Goodship, Judith A., Goodship, Timothy H.J., Lambert, Heather J., Cordell, Heather J., Saggar, Anand, Kinali, Maria, Lorenz, Christian, Moeller, Kristina, Schaefer, Franz, Bayazit, Aysun K., Weber, Stefanie, Newman, William G., Woolf, Adrian S.
Publicado no J Am Soc Nephrol (2015)