Search Results - "Pabst, Werner"

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome by Sadowski, Carolin E, Lovric, Svjetlana, Ashraf, Shazia, Pabst, Werner L, Gee, Heon Yung, Kohl, Stefan, Engelmann, Susanne, Vega-Warner, Virginia, Fang, Humphrey, Halbritter, Jan, Somers, Michael J, Tan, Weizhen, Shril, Shirlee, Fessi, Inès, Lifton, Richard P, Bockenhauer, Detlef, El-Desoky, Sherif, Kari, Jameela A, Zenker, Martin, Kemper, Markus J, Mueller, Dominik, Fathy, Hanan M, Soliman, Neveen A, Hildebrandt, Friedhelm

“…Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First…”
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Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome by Warejko, Jillian K, Tan, Weizhen, Daga, Ankana, Schapiro, David, Lawson, Jennifer A, Shril, Shirlee, Lovric, Svjetlana, Ashraf, Shazia, Rao, Jia, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J, Schneider, Ronen, Gee, Heon Yung, Schmidt, J Magdalena, Vivante, Asaf, van der Ven, Amelie T, Ityel, Hadas, Chen, Jing, Sadowski, Carolin E, Kohl, Stefan, Pabst, Werner L, Nakayama, Makiko, Somers, Michael J G, Rodig, Nancy M, Daouk, Ghaleb, Baum, Michelle, Stein, Deborah R, Ferguson, Michael A, Traum, Avram Z, Soliman, Neveen A, Kari, Jameela A, El Desoky, Sherif, Fathy, Hanan, Zenker, Martin, Bakkaloglu, Sevcan A, Müller, Dominik, Noyan, Aytul, Ozaltin, Fatih, Cadnapaphornchai, Melissa A, Hashmi, Seema, Hopcian, Jeffrey, Kopp, Jeffrey B, Benador, Nadine, Bockenhauer, Detlef, Bogdanovic, Radovan, Stajić, Nataša, Chernin, Gil, Ettenger, Robert, Fehrenbach, Henry, Kemper, Markus, Munarriz, Reyner Loza, Podracka, Ludmila, Büscher, Rainer, Serdaroglu, Erkin, Tasic, Velibor, Mane, Shrikant, Lifton, Richard P, Braun, Daniela A, Hildebrandt, Friedhelm

“…Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic…”
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Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome by Braun, Daniela A, Sadowski, Carolin E, Kohl, Stefan, Lovric, Svjetlana, Astrinidis, Susanne A, Pabst, Werner L, Gee, Heon Yung, Ashraf, Shazia, Lawson, Jennifer A, Shril, Shirlee, Airik, Merlin, Tan, Weizhen, Schapiro, David, Rao, Jia, Choi, Won-Il, Hermle, Tobias, Kemper, Markus J, Pohl, Martin, Ozaltin, Fatih, Konrad, Martin, Bogdanovic, Radovan, Büscher, Rainer, Helmchen, Udo, Serdaroglu, Erkin, Lifton, Richard P, Antonin, Wolfram, Hildebrandt, Friedhelm

“…Friedhelm Hildebrandt and colleagues identify mutations in NUP93 , NUP205 or XPO5 in patients with steroid-resistant nephrotic syndrome. They show that NUP93…”
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly by 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, Ullmann, Jeremy F P, Hoogstraten, Charlotte A, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I Chiara, Sanchez-Ferras, Oraly, Hu, Jennifer F, Boschat, Anne-Claire, Sanquer, Sylvia, 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 K, Daga, Ankana, Basta, Tamara, Matejas, Verena, Scharmann, Karin, Kienast, Sandra D, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T, Gaffney, Patrick M, Gipson, Patrick E, Hsu, Chyong-Hsin, Kari, Jameela A, Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okashah, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Ozaltin, Fatih, Praet, Marleen, Prasad, Chitra, Roeder, Elizabeth R, Rump, Patrick, Schnur, Rhonda E, Shiihara, Takashi, Sinha, Manish D, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A, Tsai, Wen-Hui, Tsai, Jeng-Daw, Topaloglu, Rezan, Vester, Udo, Viskochil, David H, Vatanavicharn, Nithiwat, Wierenga, Klaas J, Wolf, Matthias T F, Wong, Sik-Nin, Leidel, Sebastian A, Truglio, Gessica, Dedon, Peter C, Poduri, Annapurna, Mane, Shrikant, Lifton, Richard P, Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Callewaert, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm

“…Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt and colleagues report that mutations in OSGEP , TP53RK , TPRKB and LAGE3 , genes encoding KEOPS-complex…”
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Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment by Ashraf, Shazia, Kudo, Hiroki, Rao, Jia, Kikuchi, Atsuo, Widmeier, Eugen, Lawson, Jennifer A., Tan, Weizhen, Hermle, Tobias, Warejko, Jillian K., Shril, Shirlee, Airik, Merlin, Jobst-Schwan, Tilman, Lovric, Svjetlana, Braun, Daniela A., Gee, Heon Yung, Schapiro, David, Majmundar, Amar J., Sadowski, Carolin E., Pabst, Werner L., Daga, Ankana, van der Ven, Amelie T., Schmidt, Johanna M., Low, Boon Chuan, Gupta, Anjali Bansal, Tripathi, Brajendra K., Wong, Jenny, Campbell, Kirk, Metcalfe, Kay, Schanze, Denny, Niihori, Tetsuya, Kaito, Hiroshi, Nozu, Kandai, Tsukaguchi, Hiroyasu, Tanaka, Ryojiro, Hamahira, Kiyoshi, Kobayashi, Yasuko, Takizawa, Takumi, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kumagai, Naonori, Iijima, Kazumoto, Fehrenbach, Henry, Kari, Jameela A., El Desoky, Sherif, Jalalah, Sawsan, Bogdanovic, Radovan, Stajić, Nataša, Zappel, Hildegard, Rakhmetova, Assel, Wassmer, Sharon-Rose, Jungraithmayr, Therese, Strehlau, Juergen, Kumar, Aravind Selvin, Bagga, Arvind, Soliman, Neveen A., Mane, Shrikant M., Kaufman, Lewis, Lowy, Douglas R., Jairajpuri, Mohamad A., Lifton, Richard P., Pei, York, Zenker, Martin, Kure, Shigeo, Hildebrandt, Friedhelm

“…No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes ( MAGI2,…”
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Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome by Ebarasi, Lwaki, Ashraf, Shazia, Bierzynska, Agnieszka, Gee, Heon Yung, McCarthy, Hugh J., Lovric, Svjetlana, Sadowski, Carolin E., Pabst, Werner, Vega-Warner, Virginia, Fang, Humphrey, Koziell, Ania, Simpson, Michael A., Dursun, Ismail, Serdaroglu, Erkin, Levy, Shawn, Saleem, Moin A., Hildebrandt, Friedhelm, Majumdar, Arindam

“…Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive…”
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Prevalence of Enteroaggregative Escherichia coli among Children with and without Diarrhea in Switzerland by PABST, Werner L, ALTWEGG, Martin, KIND, Christian, MIRJANIC, Slavko, HARDEGGER, Daniel, NADAL, David

“…Article Usage Stats Services JCM Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly by 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

“…Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome…”
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Successful long-term outcome after renal transplantation in a patient with atypical haemolytic uremic syndrome with combined membrane cofactor protein CD46 and complement factor I mutations by Pabst, Werner Lukas, Neuhaus, Thomas J., Nef, Samuel, Bresin, Elena, Zingg-Schenk, Andrea, Spartà, Giuseppina

“…Background Atypical haemolytic uremic syndrome (aHUS) is often associated with a high risk of disease recurrence and subsequent graft loss after isolated renal…”
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Tc-generators - yield of 99mTc and ratio to 'inactive' 99Tc by Bauer, R, Pabst, H W

“…A large amount of inactive 99Tc in some delicate labeling techniques may adversely affect the results obtained. Therefore, it is important to know the ratio…”
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Inquiry to standardize nuclear-medical functional investigations by Bauer, R, Pabst, H W

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Gewerbliche Benzol-Vergiftungen by Pabst, Werner

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Curative Radioimmunotherapy of Human Mammary Carcinoma Xenografts with Iodine-131-Labeled Monoclonal Antibodies by Senekowitsch, Reingard, Reidel, Gunther, Mollenstadt, Sigrun, Kriegel, Heinz, Pabst, Hans-Werner

“…The radioiodinated monoclonal antibody BW 495/36 showed an exceptionally high uptake and long residence time in human ductal mammary carcinoma xenografts in…”
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Investigations for vesicoureteric reflux in children: ultrasound vs. radionuclide voiding cystography by Martin, W G, Schneider, K, Lauer, O, Fendel, H, Pabst, H W

“…In this study, 53 children suffering from recurrent urinary tract infections were investigated both by ultrasound and direct radionuclide voiding cystography…”
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Prevention of postoperative thromboembolism by various treatments. Controlled clinical trial in 632 patients using 125I-fibrinogen uptake test and lung perfusion scans in patients with deep venous thrombosis by Hör, G, Buttermann, G, Theisinger, W, Pabst, H W

“…In 632 patients efficacy of dihydroergotamine (DHE) in preventing postoperative deep venous thrombosis (DVT) and pulmonary embolism (PE) was tested vs…”
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