Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
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
Published in Clinical journal of the American Society of Nephrology (06.01.2018)
Published in Clinical journal of the American Society of Nephrology (06.01.2018)
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
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, 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, Prytula, Agnieszka, 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, Waxler, Jessica L, Wierenga, Klaas J, Wolf, Matthias T F, Wong, Sik-Nin, Leidel, Sebastian A, Truglio, Gessica, Dedon, Peter C, Mane, Shrikant, Lifton, Richard P, Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Callewaert, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm
Published in Nature genetics (01.10.2017)
Published in Nature genetics (01.10.2017)
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Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
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
Published in Nature genetics (01.04.2016)
Published in Nature genetics (01.04.2016)
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Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
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
Published in Nature communications (17.05.2018)
Published in Nature communications (17.05.2018)
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Predicting Progression of Intracranial Arteriopathies in Childhood Stroke With Vessel Wall Imaging
Stence, Nicholas V, Pabst, Lisa L, Hollatz, Amanda L, Mirsky, David M, Herson, Paco S, Poisson, Sharon, Traystman, Richard J, Bernard, Timothy J
Published in Stroke (1970) (01.08.2017)
Published in Stroke (1970) (01.08.2017)
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Influenza Vaccination Coverage Among Children Aged 6 Months–18 Years—Eight Immunization Information System Sentinel Sites, United States, 2008-09 Influenza Season
Potter, R, Pabst, LJ, Fiore, AE
Published in JAMA : the journal of the American Medical Association (25.11.2009)
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Published in JAMA : the journal of the American Medical Association (25.11.2009)
Journal Article
1404P Clinical characteristics and therapeutics sequences of KRAS G12C metastatic non-small cell lung cancer (mNCSLC) patients treated by sotorasib in the French pre-marketing authorization (MA) early access program (cohort temporary authorization of use, cATU)
Lena, H., Cadranel, J., Girard, N., Mazieres, J., Curcio, H., Gille, R., Madroszyk Flandin, A-C., Auliac, J.B., Bylicki, O., Rieux, C., Couraud, S., Barlesi, F., Pichon, E., Métivier, A-C., Almotlak, H., Pabst, L., Deldycke, C., Duchemann, B., De Gunten, L., Quantin, X.
Published in Annals of oncology (01.10.2023)
Published in Annals of oncology (01.10.2023)
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930P Weekly paclitaxel, carboplatin and cetuximab (PCC) as first-line treatment of recurrent and/or metastatic head & neck squamous cell carcinoma (R/M-HNSCC) for patients ineligible to cisplatin based chemotherapy
Carinato, H., Burgy, M., Fischbach, C., Kalish-Weindling, M., Pabst, L., Frasie, V., Thiery, A., Coliat, P., Demarchi, M.F., Petit, T., Borel, C.
Published in Annals of oncology (01.09.2020)
Published in Annals of oncology (01.09.2020)
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1121P Real-world (RW) data from the sotorasib French pre-market authorization early access program in patients (pts) with KRASG12C driven metastatic non-small cell lung cancer (mNSCLC): Clinical characteristics
Cadranel, J., Quantin, X., Girard, N., Barlesi, F., Auliac, J.B., Couraud, S., Madroszyk Flandin, A-C., Pabst, L., Rieux, C., Curcio, H., Gille, R., Métivier, A-C., Becht, C., Bylicki, O., Tomasini, P., Veillon, R., Damade, C., Mourad, C., Veillard, C., Lena, H.
Published in Annals of oncology (01.09.2022)
Published in Annals of oncology (01.09.2022)
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Journal Article
Advanced Laser Patterning for Security Marking of High Value Metal Components
Yang, J., Pabst, L., Perrie, W., Allegre, O., Dearden, G., Edwardson, S.P.
Published in Procedia engineering (2017)
Published in Procedia engineering (2017)
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Neuropathie persistante induite par les taxanes chez les patientes âgées de plus de 65 ans traitées pour un cancer du sein localisé
Pabst, L., Velten, M., Leblanc, J., Fischbach, C., Kalish, M., Pivot, X., Petit, T.
Published in Revue d'épidémiologie et de santé publique (01.02.2020)
Published in Revue d'épidémiologie et de santé publique (01.02.2020)
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Journal Article
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
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
Published in Journal of the American Society of Nephrology (01.06.2015)
Published in Journal of the American Society of Nephrology (01.06.2015)
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