Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Stefan Fründ"'
Autor:
Lawrence R. Shoemaker, Jürgen Spranger, Robyn Cairns, Cristina Rusu, Jean Luc André, Barbara Hinkelmann, Beate Schmidt, Bertram F. Pontz, Doris Taha, Helen Fryssira, Guiliana Lama, Thomas Lücke, Jorge M. Saraiva, Stefan Fründ, David Goodman, Knut Helmke, Natasa Stajic, Petra Lamfers, Chantal Loirat, Sabine Sigaudy, Harika Alpay, Radovan Bogdanovic, Yumi Asakura, Silvia Majore, Kshamta B. Hunter, Dominique Bonneau, Sarah F. Smithson, Christy Mayfield, Cornelius F. Boerkoel, Karlien Cransberg
Publikováno v:
European Journal of Pediatrics
European Journal of Pediatrics, 2010, 169 (7), pp.801-811. ⟨10.1007/s00431-009-1115-9⟩
European Journal of Pediatrics, 169, 801-811. Springer-Verlag
European Journal of Pediatrics, 2010, 169 (7), pp.801-811. ⟨10.1007/s00431-009-1115-9⟩
European Journal of Pediatrics, 169, 801-811. Springer-Verlag
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-a
Autor:
Elke Wühl, Martin Pohl, Günter Klaus, Britta Höcker, Stefan Fründ, Burkhard Tönshoff, Lutz T. Weber, Reinhard Feneberg, Ulrike John, Henry Fehrenbach, Miriam Zimmering, Jens Drube
Publikováno v:
Nephrology Dialysis Transplantation. 25:617-624
BACKGROUND Long-term corticosteroid treatment impairs growth and increases cardiovascular risk factors. Hence, steroid withdrawal constitutes a major topic in paediatric renal transplantation and maintenance immunosuppression. METHODS The lack of dat
Autor:
Elke Wühl, Martin Pohl, Miriam Zimmering, Reinhard Feneberg, Günter Klaus, Ulrike John, Jens Drube, Lutz T. Weber, Stefan Fründ, Britta Höcker, Burkhard Tönshoff, Henry Fehrenbach
Publikováno v:
Transplantation. 87:934-941
BACKGROUND : Many transplant centers practice late steroid withdrawal after pediatric renal transplantation, but evidence-based data on the overall risk-to-benefit ratio in this patient population are lacking. METHODS : We therefore conducted the fir
Autor:
Boris Utsch, Eberhard Kuwertz-Bröking, Bernd Balluch, Stefan Fründ, Michael Ludwig, Arend Bökenkamp
Publikováno v:
Pediatric Nephrology. 21:1241-1250
Hypercalciuria is regarded as a characteristic symptom of Dent disease, an X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, nephrocalcinosis/nephrolithiasis, and progressive renal failure due to mutations in the
Autor:
D. Ross McLeod, Ilkka Kaitila, Graham Smith, Isabel Cordeiro, Anja Stein, Pawel Stankiewicz, James R. Lupski, Hiroshi Takashima, Rosanna Weksberg, Francisco Rodrigo, Hannelore Thiele, Jiong Yan, Jürgen Spranger, David V. Milford, Beate Schmidt, Sandra Cockfield, Cornelius F. Boerkoel, Joy John, Giuliana Lama, Friederike Illies, David W. Stockton, Lisa Rosenbarker, Jorge M. Saraiva, Jane Tizard, Jean Luc André, Radovan Bogdanovic, Antoine Burguet, Stefan Fründ, Mark Joseph, Elizabeth M. Petty, Chantal Loirat
Publikováno v:
Nature Genetics. 30:215-220
Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Using genome-wide linkage mapping and a po
Autor:
F. Illies, Cornelius F. Boerkoel, A. Ieshima, David V. Milford, Radovan Bogdanovic, S. O'Neill, Isabel Cordeiro, M. Bulla, D. F. Geary, Ana Medeira, A. Burguet, Guiliana Lama, Z. Rener-Primec, P. J. Benke, Beate E. Schmidt, Ilkka Kaitila, Mark Joseph, Jean Luc André, H. G. Santos, Jürgen Spranger, Rosanna Weksberg, M. D. Ludman, D. R. Mcleod, B. Leheup, N. Zupancic, Jochen H. H. Ehrich, Stefan Fründ, Sandra Cockfield, T. Örmälä, Graham Smith, A. Santava
Publikováno v:
European Journal of Pediatrics. 159:1-7
Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal
Autor:
Okan Bakınen, Gilbert Deray, Ken Okumura, Keiko Uchida, Ljubica Ðukanović, J.H. Park, Y.S. Haviv, Mitsuyoshi Furuhashi, Shou-Shan Chiang, Vladisav Stefanovic, Martin Ellbogen, E. Sedano, L. Grcevska, Sun Ae Yoon, Yuet-Ching Tay, Junne-Ming Sung, Hirotsugu Iwatani, Matt Koch, Toshiyuki Imasawa, Michael Field, Masahiko Nakamoto, Vincenzo Bellizzi, Jung-Kuei Pai, H. Pasantes-Morales, Yoshiyuki Hiki, Robert Dunlay, Yoshiaki Takemoto, Hideaki Yamabe, Johan W. de Fijter, Yutaka Kobayashi, Junko Tanaka, Ayşegül Örs Zümrütdal, Jyh-Gang Leu, B.K. Bang, Katsuo Suyama, Shigetake Sasayama, J. Möcks, A. Rodríguez-Cuartero, Toshika Okumiya, Minako Koike, Byung Kee Bang, Naoyuki Tamura, Hacı Veli Atalay, Adriaan M. Kamper, I. Villen, Chie Tomida, Heather J. Saunders, Kenji Tsuchida, Akira Kawashima, Giuseppe La Greca, Ming-Cheng Wang, Shu-May Lin, Tetuhiko Yoshida, Qu Huiqi, Yukitaka Maruyama, Hiroshi Nihei, Michihiro Gotoh, Kazuho Honda, Yasukazu Yamada, Shinichi Kakumu, Sohji Nagase, Elsie-C. Chan, Mutsuko Hidaka, Atsushi Ueda, Aysun Karabay Bayazit, Kazumasa Aoyagi, Masaya Yamato, Akio Koyama, Yoshihiro Matsumoto, Diana Ionova, Wei-Chi Lee, Slavenka Janković, Hiroshi Osawa, Tatsuo Hosoya, Qiu Mingcai, Takako Takita, Lin Shan, Shu-Yin Kuo, Gopala K. Rangan, Tsung Hsiu Wang, Richard J. Lund, Tatsuya Nakatani, Harutaka Yamada, Krasimira Sepetlieva, M. Pérez-Suarez, Jerome G. Porush, Aytül Noyan, Stefan Fründ, Predrag Vlahović, Weier Qi, P A Conz, Akihiko Kato, Hui Kyung Jeon, Jelena Marinkovic, Kazuhiro Okano, Akira Hishida, J.Y. Choi, Krystyna Szprynger, Brad Oldemeyer, Satoru Tsunoda, Takayuki Fujita, Hatice Bodur, G. Petruševska, Isao Ohsawa, Danuta Zwolińska, York Leng Yu, Arao Futenma, Hitoe Suzuki, G. Maschio, J.L. Pérez-Castrillón, Rich Jones, Gakusen Nishihara, Takanari Aoki, Maria Szczepańska, Danica Bukvić, Sumio Tateno, Masahiro Kakihara, M. Milovanceva-Popovska, Young Ok Kim, Kuddusi Cengiz, M. Arrabal-Martín, Yau-Huei Wei, Tein-Chung Lu, Toshiyuki Takahashi, David A. Vesey, Hiroshi Tatsumi, Kamen Tcachev, Keisuke Yamamoto, Eriya Kikawada, Monika Bulla, Vincenzo Terracciano, Jeng-Jong Huang, Haruo Tomonari, Junji Terao, Halil Uçan, Atsushi Fukatsu, Atsushi Yamauchi, Sun Jeong Lim, Robert Kleta, Kosaku Nitta, Atsushi Satomura, A. Zuluaga, Yoshiko Baba, Morito Endo, F.J. Pérez-Blanco, Hassan Izzedine, Paik-Seong Lim, M. Polenakovic, Mitsuaki Kaizuka, C.W. Yang, Takashi Uzu, A. Egon van der Bijl, Biagio Di Iorio, Chikao Yasunaga, Fumiko Tateyama, Aya Abe, Yiping Wang, Eun Jung Jun, Chan Joo Kim, Chang Hee Han, Ali Anarat, Eri Muso, Satoru Kuriyama, Izumi Amano, Aki Hirayama, Takanobu Sakemi, Y.M. Choo, Wey-Wen Jiang, G.B. Kim, Fen-Fen Chen, S. Morales Mulia, Anna Medyńska, Marina Mitić-Zlatković, Wako Yumura, I. Justo-Muradas, Carlo Crepaldi, Koichi Suzuki, Yasuhiro Chikamori, Kenichi Shirato, Naoto Miura, Y.S. Kim, Katsumi Takemura, Leendert C. Paul, Carol A. Pollock, A.J. Meares, Masatomo Yashiro, Vincent Launay-Vacher, Hiroyuki Ohi, David W. Johnson, E. Saracibar, David Harris, Eberhard Kuwertz-Bröking
Publikováno v:
Nephron. 86:569-574
Autor:
François Nobili, Lawrence R. Shoemaker, David V. Milford, Mitra Basiratnia, Anna Buck, Georges Deschênes, Isabel Cordeiro, Jorge M. Saraiva, Helen Fryssira, Anja Stein, Behzad Najafian, Natasa Stajic, Laura Massella, Joel Charrow, Glenda Hendson, Umakumaran Ponniah, Thomas Lücke, M. Semin Fenkçi, Doris Taha, Elena Levtchenko, J. Marietta Clewing, Pierre Frange, Yumi Asakura, Christine Kobelka, Jean Luc André, David M. Parham, Jonathan Zonana, Radovan Bogdanovic, Justin Weinkauf, Zhongxin Yu, C. Nur Semerci, Stefan Fründ, Arend Bökenkamp, Cornelius F. Boerkoel, Salman Kirmani, Dorothea Wand, Peter Stenzel, Kory Keller, David B. Lewis, Pierre Cochat, Marie Morimoto, Christy Mayfield, Encarna Guillén-Navarro, D. Ross McLeod, Andrew K. Gormley, Petra Lamfers, Dominique Bonneau
Publikováno v:
Orphanet Journal of Rare Diseases, 7:70. BioMed Central
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 70 (2012)
Morimoto, M, Yu, Z X, Stenzel, P, Clewing, J M, Najafian, B, Mayfield, C, Hendson, G, Weinkauf, J G, Gormley, A K, Parham, D M, Ponniah, U, Andre, J L, Asakura, Y, Basiratnia, M, Bogdanovic, R, Bokenkamp, A, Bonneau, D, Buck, A, Charrow, J, Cochat, P, Cordeiro, I, Deschenes, G, Fenkci, M S, Frange, P, Frund, S, Fryssira, H, Guillen-Navarro, E, Keller, K, Kirmani, S, Kobelka, C, Lamfers, P, Levtchenko, E, Lewis, D B, Massella, L, Mcleod, D R, Milford, D V, Nobili, F, Saraiva, J M, Semerci, C N, Shoemaker, L, Stajic, N, Stein, A, Taha, D, Wand, D, Zonana, J, Lucke, T & Boerkoel, C F 2012, ' Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? ', Orphanet Journal of Rare Diseases, vol. 7, 70 . https://doi.org/10.1186/1750-1172-7-70
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 70 (2012)
Morimoto, M, Yu, Z X, Stenzel, P, Clewing, J M, Najafian, B, Mayfield, C, Hendson, G, Weinkauf, J G, Gormley, A K, Parham, D M, Ponniah, U, Andre, J L, Asakura, Y, Basiratnia, M, Bogdanovic, R, Bokenkamp, A, Bonneau, D, Buck, A, Charrow, J, Cochat, P, Cordeiro, I, Deschenes, G, Fenkci, M S, Frange, P, Frund, S, Fryssira, H, Guillen-Navarro, E, Keller, K, Kirmani, S, Kobelka, C, Lamfers, P, Levtchenko, E, Lewis, D B, Massella, L, Mcleod, D R, Milford, D V, Nobili, F, Saraiva, J M, Semerci, C N, Shoemaker, L, Stajic, N, Stein, A, Taha, D, Wand, D, Zonana, J, Lucke, T & Boerkoel, C F 2012, ' Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? ', Orphanet Journal of Rare Diseases, vol. 7, 70 . https://doi.org/10.1186/1750-1172-7-70
Orphanet Journal of Rare Diseases
Background Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aff0e0995712e817e2e461d654ddc339
https://lirias.kuleuven.be/handle/123456789/653703
https://lirias.kuleuven.be/handle/123456789/653703
Autor:
Kristi Dehaai, Joel Charrow, Alireza Baradaran-Heravi, Dominique Bonneau, Helen Fryssira, Radovan Bogdanovic, C. N. Semerci, Thomas Lücke, M. S. Fenkçi, Kory Keller, Pierre Frange, D. R. Mcleod, M. Gendronneau, Salman Kirmani, David B. Lewis, Laura Massella, François Nobili, Olivia Kérourédan, Sophie Taque, Cornelius F. Boerkoel, K. Kohler, Stefan Fründ, Christine Kobelka, Martine Bonnaure-Mallet, Pierre Cochat, Jonathan Zonana, Ann Haskins Olney, Marie Morimoto, Anja Stein, Glenda Hendson, C. Shuen, David V. Milford, Natasa Stajic, Yumi Asakura, Mitra Basiratnia, Anna Buck
Publikováno v:
Journal of Dental Research
Journal of Dental Research, 2012, 91 (7 Suppl), pp.29S-37S. ⟨10.1177/0022034512450299⟩
Journal of Dental Research, SAGE Publications (UK and US), 2012, 91 (7 Suppl), pp.29S-37S. ⟨10.1177/0022034512450299⟩
Journal of Dental Research, 2012, 91 (7 Suppl), pp.29S-37S. ⟨10.1177/0022034512450299⟩
Journal of Dental Research, SAGE Publications (UK and US), 2012, 91 (7 Suppl), pp.29S-37S. ⟨10.1177/0022034512450299⟩
Described for the first time in 1971, Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessive multisystem disorder that is caused by bi-allelic mutations of SMARCAL1, which encodes a DNA annealing helicase. To define better the dental anoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89f72f995c5767ad52e77d2dacd4231c
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=84867916814
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=84867916814
Autor:
Dominique Bonneau, Asbjørg Stray-Pedersen, Nathalie Biebuyck-Gouge, Georges Deschênes, Nihal Özdemir, Barbara Hinkelmann, Sandra Cockfield, Stavroula Psoni, Guiliana Lama, David V. Milford, Maria Kanariou, Helen Fryssira, Anja Stein, Lawrence R. Shoemaker, Silvia Majore, Sarah F. Smithson, Natasa Stajic, Isabel Cordeiro, Onur Sakallioglu, Belde Kasap, Helen Georgaki, Beate Schmidt, Valérie Cormier-Daire, Newton A C S Wong, Bertram F. Pontz, Radovan Bogdanovic, Flora Sotsiou, Encarna Guillén-Navarro, Doris Taha, Cornelius F. Boerkoel, Graham Smith, Sara Sebnem Kilic, Kunho Choi, Stefan Fründ, Karel Cutka, J. Marietta Clewing, Shu Lou, Petra Lamfers, Karlien Cransberg, Emily A. Sloan, Pierre Cochat, Yumi Asakura, Chantal Loirat, Jochen H. H. Ehrich, Denis Morin, Jane Tizard, Herbert Reichenbach, David Goodman, Michel Tsimaratos, Cristina Rusu, Laure Collard, Harika Alpay, Yan Huang, Jorge M. Saraiva, Sabine Sigaudy, Willem Proesmans, Thomas Lücke, Sophie Taque, Jean Luc André, Caterina Cancrini, Silke Reif
Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiplayseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a509839dac6bcb390f642383f690409f
https://avesis.deu.edu.tr/publication/details/da3be966-7ee9-4d6f-a09b-18e79d6dbac2/oai
https://avesis.deu.edu.tr/publication/details/da3be966-7ee9-4d6f-a09b-18e79d6dbac2/oai