Zobrazeno 1 - 10
of 88
pro vyhledávání: '"J. Ille"'
Autor:
Marija Maskalan, K. Stingl Jankovic, Zorana Grubic, Renata Zunec, Miroslav Dumić, S. Zvecic, K. Dumic Kubat, Nevena Krnić, Vesna Kušec, J. Ille
Publikováno v:
HLA. 88:239-244
The CYP21A2 mutations that are in linkage disequilibrium with particular HLA-A, -B, -DRB1 alleles/haplotypes, cause deficiency of the 21-hydroxylase enzyme (21-OHD) and account for the majority of congenital adrenal hyperplasia (CAH) cases. The aim o
Autor:
H. Zohm, E. Alessi, C. Angioni, N. Arden, V. Artigues, M. Astrain, O. Asunta, M. Balden, V. Bandaru, A. Banon Navarro, M. Bauer, A. Bergmann, M. Bergmann, J. Bernardo, M. Bernert, A. Biancalani, R. Bielajew, R. Bilato, G. Birkenmeier, T. Blanken, V. Bobkov, A. Bock, L. Bock, T. Body, T. Bolzonella, N. Bonanomi, A. Bortolon, B. Böswirth, C. Bottereau, A. Bottino, H. van den Brand, M. Brenzke, S. Brezinsek, D. Brida, F. Brochard, J. Buchanan, A. Buhler, A. Burckhart, Y. Camenen, B. Cannas, P. Cano Megías, D. Carlton, M. Carr, P. Carvalho, C. Castaldo, A. Castillo Castillo, A. Cathey, M. Cavedon, C. Cazzaniga, C. Challis, A. Chankin, A. Chomiczewska, C. Cianfarani, F. Clairet, S. Coda, R. Coelho, J.W. Coenen, L. Colas, G. Conway, S. Costea, D. Coster, T. Cote, A.J. Creely, G. Croci, D.J. Cruz Zabala, G. Cseh, I. Cziegler, O. D’Arcangelo, A. Dal Molin, P. David, C. Day, M. de Baar, P. de Marné, R. Delogu, P. Denner, A. Di Siena, M. Dibon, J.J. Dominguez-Palacios Durán, D. Dunai, M. Dreval, M. Dunne, B.P. Duval, R. Dux, T. Eich, S. Elgeti, A. Encheva, B. Esposito, E. Fable, M. Faitsch, D. Fajardo Jimenez, U. Fantz, M. Farnik, H. Faugel, F. Felici, O. Ficker, A. Figueredo, R. Fischer, O. Ford, L. Frassinetti, M. Fröschle, G. Fuchert, J.C. Fuchs, H. Fünfgelder, S. Futatani, K. Galazka, J. Galdon-Quiroga, D. Gallart Escolà, A. Gallo, Y. Gao, S. Garavaglia, M. Garcia Muñoz, B. Geiger, L. Giannone, S. Gibson, L. Gil, E. Giovannozzi, I. Girka, O. Girka, T. Gleiter, S. Glöggler, M. Gobbin, J.C. Gonzalez, J. Gonzalez Martin, T. Goodman, G. Gorini, T. Görler, D. Gradic, G. Granucci, A. Gräter, G. Grenfell, H. Greuner, M. Griener, M. Groth, O. Grover, A. Gude, L. Guimarais, S. Günter, D. Hachmeister, A.H. Hakola, C. Ham, T. Happel, N. den Harder, G. Harrer, J. Harrison, V. Hauer, T. Hayward-Schneider, B. Heinemann, P. Heinrich, T. Hellsten, S. Henderson, P. Hennequin, M. Herschel, S. Heuraux, A. Herrmann, E. Heyn, F. Hitzler, J. Hobirk, K. Höfler, S. Hörmann, J.H. Holm, M. Hölzl, C. Hopf, L. Horvath, T. Höschen, A. Houben, A. Hubbard, A. Huber, K. Hunger, V. Igochine, M. Iliasova, J. Illerhaus, K. Insulander Björk, C. Ionita-Schrittwieser, I. Ivanova-Stanik, S. Jachmich, W. Jacob, N. Jaksic, A. Jansen van Vuuren, F. Jaulmes, F. Jenko, T. Jensen, E. Joffrin, A. Kallenbach, J. Kalis, A. Kappatou, J. Karhunen, C.-P. Käsemann, S. Kasilov, Y. Kazakov, A. Kendl, W. Kernbichler, E. Khilkevitch, M. Kircher, A. Kirk, S. Kjer Hansen, V. Klevarova, F. Klossek, G. Kocsis, M. Koleva, M. Komm, M. Kong, A. Krämer-Flecken, M. Krause, I. Krebs, A. Kreuzeder, K. Krieger, O. Kudlacek, D. Kulla, T. Kurki-Suonio, B. Kurzan, B. Labit, K. Lackner, F. Laggner, A. Lahtinen, P. Lainer, P.T. Lang, P. Lauber, M. Lehnen, L. Leppin, E. Lerche, N. Leuthold, L. Li, J. Likonen, O. Linder, H. Lindl, B. Lipschultz, Y. Liu, Z. Lu, T. Luda Di Cortemiglia, N.C. Luhmann, T. Lunt, A. Lyssoivan, T. Maceina, J. Madsen, A. Magnanimo, H. Maier, J. Mailloux, R. Maingi, O. Maj, E. Maljaars, V. Maquet, A. Mancini, A. Manhard, P. Mantica, M. Mantsinen, P. Manz, M. Maraschek, C. Marchetto, M. Markl, L. Marrelli, P. Martin, F. Matos, M. Mayer, P.J. McCarthy, R. McDermott, G. Meng, R. Merkel, A. Merle, H. Meyer, M. Michelini, D. Milanesio, V. Mitterauer, P. Molina Cabrera, M. Muraca, F. Nabais, V. Naulin, R. Nazikian, R.D. Nem, R. Neu, A.H. Nielsen, S.K. Nielsen, T. Nishizawa, M. Nocente, I. Novikau, S. Nowak, R. Ochoukov, J. Olsen, P. Oyola, O. Pan, G. Papp, A. Pau, G. Pautasso, C. Paz-Soldan, M. Peglau, E. Peluso, P. Petersson, C. Piron, U. Plank, B. Plaum, B. Plöckl, V. Plyusnin, G. Pokol, E. Poli, A. Popa, L. Porte, J. Puchmayr, T. Pütterich, L. Radovanovic, M. Ramisch, J. Rasmussen, G. Ratta, S. Ratynskaia, G. Raupp, A. Redl, D. Réfy, M. Reich, F. Reimold, D. Reiser, M. Reisner, D. Reiter, B. Rettino, T. Ribeiro, D. Ricci, R. Riedl, J. Riesch, J.F. Rivero Rodriguez, G. Rocchi, P. Rodriguez-Fernandez, V. Rohde, G. Ronchi, M. Rott, M. Rubel, D.A. Ryan, F. Ryter, S. Saarelma, M. Salewski, A. Salmi, O. Samoylov, L. Sanchis Sanchez, J. Santos, O. Sauter, G. Schall, A. Schlüter, J. Scholte, K. Schmid, O. Schmitz, P.A. Schneider, R. Schrittwieser, M. Schubert, C. Schuster, N. Schwarz, T. Schwarz-Selinger, J. Schweinzer, F. Sciortino, O. Seibold-Benjak, A. Shabbir, A. Shalpegin, S. Sharapov, U. Sheikh, A. Shevelev, G. Sias, M. Siccinio, B. Sieglin, A. Sigalov, A. Silva, C. Silva, D. Silvagni, J. Simpson, S. Sipilä, A. Snicker, E. Solano, C. Sommariva, C. Sozzi, M. Spacek, G. Spizzo, M. Spolaore, A. Stegmeir, M. Stejner, D. Stieglitz, J. Stober, U. Stroth, E. Strumberger, G. Suarez Lopez, W. Suttrop, T. Szepesi, B. Tál, T. Tala, W. Tang, G. Tardini, M. Tardocchi, D. Terranova, M. Teschke, E. Thorén, W. Tierens, D. Told, W. Treutterer, G. Trevisan, M. Tripský, P. Ulbl, G. Urbanczyk, M. Usoltseva, M. Valisa, M. Valovic, S. van Mulders, M. van Zeeland, F. Vannini, B. Vanovac, P. Varela, S. Varoutis, T. Verdier, G. Verdoolaege, N. Vianello, J. Vicente, T. Vierle, E. Viezzer, I. Voitsekhovitch, U. von Toussaint, D. Wagner, X. Wang, M. Weiland, D. Wendler, A.E. White, M. Willensdorfer, B. Wiringer, M. Wischmeier, R. Wolf, E. Wolfrum, Q. Yang, C. Yoo, Q. Yu, R. Zagórski, I. Zammuto, T. Zehetbauer, W. Zhang, W. Zholobenko, A. Zibrov, M. Zilker, C.F.B. Zimmermann, A. Zito, S. Zoletnik, the EUROfusion Tokamak Exploitation Team, the ASDEX Upgrade Team
Publikováno v:
Nuclear Fusion, Vol 64, Iss 11, p 112001 (2024)
Experiments on ASDEX Upgrade (AUG) in 2021 and 2022 have addressed a number of critical issues for ITER and EU DEMO. A major objective of the AUG programme is to shed light on the underlying physics of confinement, stability, and plasma exhaust in or
Externí odkaz:
https://doaj.org/article/5a7398684b904ec9b160ae923bbcf178
Autor:
O. Kudlacek, P. David, I. Gomez, A. Gräter, B. Sieglin, W. Treutterer, M. Weiland, T. Zehetbauer, M. Van Berkel, M. Bernert, T. Bosman, F. Felici, L. Giannone, J. Illerhaus, D. Kropackova, P.T. Lang, M. Maraschek, B. Ploeckl, M. Reich, A. Vedl Kubincova, the ASDEX Upgrade Team, EUROfusion Tokamak Exploitation Team
Publikováno v:
Nuclear Fusion, Vol 64, Iss 5, p 056012 (2024)
The successful operation of fusion reactors requires plasma scenarios with good core confinement and acceptable first wall heat loads that are stable and robust to external perturbations. This poses both physical and technological challenges. One of
Externí odkaz:
https://doaj.org/article/4855f2868f89441d9ee2080ce97020ef
Autor:
Z, Grubic, M, Maskalan, K, Stingl Jankovic, S, Zvecic, K, Dumic Kubat, N, Krnic, R, Zunec, J, Ille, V, Kusec, M, Dumic
Publikováno v:
HLA. 88(5)
The CYP21A2 mutations that are in linkage disequilibrium with particular HLA-A, -B, -DRB1 alleles/haplotypes, cause deficiency of the 21-hydroxylase enzyme (21-OHD) and account for the majority of congenital adrenal hyperplasia (CAH) cases. The aim o
Autor:
R. Zunec, J. Ille, I. Kuvacic, Maria I. New, Vesna Plavšić, Miroslav Dumić, L. Brkljacic, Andrija Kaštelan, Robert C. Wilson
Publikováno v:
American Journal of Medical Genetics. 72:302-306
We report on the prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase in 20 at-risk pregnancies (16 salt-wasting and 4 simple virilizing families). We have diagnosed 3 affected fetuses (2 males and 1 female), 3 healthy homozygot
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Autor:
M, Dumić, J, Ille, S, Batinica, M, Cacić, M, Cvitanović, B, Marinović, V, Plavsić, M, Lukenda, A, Radica
Publikováno v:
Lijecnicki vjesnik. 121(1-2)
Two girls (11 and 13 years old) with Cushing's syndrome due to primary adrenocortical micronodular dysplasia (PAMD) are presented. High plasma cortisol concentrations, elevated urinary free cortisol and 17-ketogenic steroids excretion, in addition to
Publikováno v:
Lijecnicki vjesnik. 120(5)
A 17 year and 10 month old boy with Johanson-Blizzard syndrome is presented as a case report for the first time. Diagnosis has been established on the basis of craniofacial abnormalities: microcephalia, parietal skin and bone defects, sparse hair wit
Publikováno v:
Lijecnicki vjesnik. 120(1-2)
Cases of a ten-year-old boy with childhood cerebral adrenoleukodystrophy (ALD) and a 22-year-old youngster with adrenomyeloneuropathy (AMN) are reported. ALD is an inherited, X-linked perixisomal disorder associated with the accumulation of very long
Autor:
M, Dumic, L, Brkljacic, V, Plavsic, R, Zunec, J, Ille, R C, Wilson, I, Kuvacic, A, Kastelan, M I, New
Publikováno v:
American journal of medical genetics. 72(3)
We report on the prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase in 20 at-risk pregnancies (16 salt-wasting and 4 simple virilizing families). We have diagnosed 3 affected fetuses (2 males and 1 female), 3 healthy homozygot