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

od 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
Izdano 2010

SOS1 is the second most common Noonan gene but plays no major role in cardio‐facio‐cutaneous syndrome

od Zenker, Martin, Horn, Denise, Wieczorek, Dagmar, Allanson, Judith, Pauli, Silke, van der Burgt, Ineke, Doerr, Helmuth‐Guenther, Gaspar, Harald, Hofbeck, Michael, Gillessen‐Kaesbach, Gabriele, Koch, Andreas, Meinecke, Peter, Mundlos, Stefan, Nowka, Anja, Rauch, Anita, Reif, Silke, von Schnakenburg, Christian, Seidel, Heide, Wehner, Lars‐Erik, Zweier, Christiane, Bauhuber, Susanne, Matejas, Verena, Kratz, Christian P, Thomas, Christoph, Kutsche, Kerstin
Izdano 2007

Mutations in the Human Laminin β2 (LAMB2) Gene and the Associated Phenotypic Spectrum

od Matejas, Verena, Hinkes, Bernward, Alkandari, Faisal, Al-Gazali, Lihadh, Annexstad, Ellen, Aytac, Mehmet B., Barrow, Margaret, Bláhová, Kvĕta, Bockenhauer, Detlef, Cheong, Hae Il, Maruniak-Chudek, Iwona, Cochat, Pierre, Dötsch, Jörg, Gajjar, Priya, Hennekam, Raoul C., Janssen, Françoise, Kagan, Mikhail, Kariminejad, Ariana, Kemper, Markus J., Koenig, Jens, Kogan, Jillene, Kroes, Hester Y., Kuwertz-Bröking, Eberhard, Lewanda, Amy F., Medeira, Ana, Muscheites, Jutta, Niaudet, Patrick, Pierson, Michel, Saggar, Anand, Seaver, Laurie, Suri, Mohnish, Tsygin, Alexey, Wühl, Elke, Zurowska, Aleksandra, Uebe, Steffen, Hildebrandt, Friedhelm, Antignac, Corinne, Zenker, Martin
Izdano 2010

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

od 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
Izdano 2011

Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

od Braun, Daniela A., Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Lawson, Jennifer A., Schanze, Denny, Ashraf, Shazia, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I. Chiara, Sanchez-Ferras, Oraly, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E., Pabst, Werner L., Warejko, Jillian, Daga, Ankana, LeBerre, Tamara Basta, Matejas, Verena, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T., Gipson, Patrick E., Hsu, Chyong-Hsin, Kari, Jameela A., Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okasha, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Praet, Marleen, Prasad, Chitra, Prytula, Agnieszka, Roeder, Elizabeth, Rump, Patrick, Schnur, Rhonda E., Shiihara, Takashi, Sinha, Manish, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A., Tsai, Wen-Hui, Tsai, Jeng-Daw, Vester, Udo, Viskochil, David H., Vatanavicharn, Nithiwat, Waxler, Jessica L., Wolf, Matthias T.F., Wong, Sik-Nin, Poduri, Annapurna, Truglio, Gessica, Mane, Shrikant, Lifton, Richard P., Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Calleweart, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm
izdano v Nat Genet (2017)