Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis

Por Vlangos, Christopher N., O’Connor, Bridget C., Morley, Madeleine J., Krause, Andrea S., Osawa, Gail A., Keegan, Catherine E.
Publicado em 2009

Next-Generation Sequencing Identifies the Danforth's Short Tail Mouse Mutation as a Retrotransposon Insertion Affecting Ptf1a Expression

Por Vlangos, Christopher N., Siuniak, Amanda N., Robinson, Dan, Chinnaiyan, Arul M., Lyons, Robert H., Cavalcoli, James D., Keegan, Catherine E.
Publicado em 2013

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome

Por Heeringa, Saskia F., Vlangos, Christopher N., Chernin, Gil, Hinkes, Bernward, Gbadegesin, Rasheed, Liu, Jinhong, Hoskins, Bethan E., Ozaltin, Fatih, Hildebrandt, Friedhelm
Publicado em 2008

A Novel TRPC6 Mutation That Causes Childhood FSGS

Por Heeringa, Saskia F., Möller, Clemens C., Du, Jianyang, Yue, Lixia, Hinkes, Bernward, Chernin, Gil, Vlangos, Christopher N., Hoyer, Peter F., Reiser, Jochen, Hildebrandt, Friedhelm
Publicado em 2009

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

Por Schoeb, Dominik S., Chernin, Gil, Heeringa, Saskia F., Matejas, Verena, Held, Susanne, Vega-Warner, Virginia, Bockenhauer, Detlef, Vlangos, Christopher N., Moorani, Khemchand N., Neuhaus, Thomas J., Kari, Jameela A., MacDonald, James, Saisawat, Pawaree, Ashraf, Shazia, Ovunc, Bugsu, Zenker, Martin, Hildebrandt, Friedhelm
Publicado em 2010

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

Por Hildebrandt, Friedhelm, Heeringa, Saskia F., Rüschendorf, Franz, Attanasio, Massimo, Nürnberg, Gudrun, Becker, Christian, Seelow, Dominik, Huebner, Norbert, Chernin, Gil, Vlangos, Christopher N., Zhou, Weibin, O'Toole, John F., Hoskins, Bethan E., Wolf, Matthias T. F., Hinkes, Bernward G., Chaib, Hassan, Ashraf, Shazia, Schoeb, Dominik S., Ovunc, Bugsu, Allen, Susan J., Vega-Warner, Virginia, Wise, Eric, Harville, Heather M., Lyons, Robert H., Washburn, Joseph, MacDonald, James, Nürnberg, Peter, Otto, Edgar A.
Publicado em 2009

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Por Heeringa, Saskia F., Chernin, Gil, Chaki, Moumita, Zhou, Weibin, Sloan, Alexis J., Ji, Ziming, Xie, Letian X., Salviati, Leonardo, Hurd, Toby W., Vega-Warner, Virginia, Killen, Paul D., Raphael, Yehoash, Ashraf, Shazia, Ovunc, Bugsu, Schoeb, Dominik S., McLaughlin, Heather M., Airik, Rannar, Vlangos, Christopher N., Gbadegesin, Rasheed, Hinkes, Bernward, Saisawat, Pawaree, Trevisson, Eva, Doimo, Mara, Casarin, Alberto, Pertegato, Vanessa, Giorgi, Gianpietro, Prokisch, Holger, Rötig, Agnès, Nürnberg, Gudrun, Becker, Christian, Wang, Su, Ozaltin, Fatih, Topaloglu, Rezan, Bakkaloglu, Aysin, Bakkaloglu, Sevcan A., Müller, Dominik, Beissert, Antje, Mir, Sevgi, Berdeli, Afig, ϖzen, Seza, Zenker, Martin, Matejas, Verena, Santos-Ocaña, Carlos, Navas, Placido, Kusakabe, Takehiro, Kispert, Andreas, Akman, Sema, Soliman, Neveen A., Krick, Stefanie, Mundel, Peter, Reiser, Jochen, Nürnberg, Peter, Clarke, Catherine F., Wiggins, Roger C., Faul, Christian, Hildebrandt, Friedhelm
Publicado em 2011