Zobrazeno 1 - 10 of 177 pro vyhledávání: '"M, Erdel"'
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Contents Vol. 136, 2012
Autor: I. Borze, Hans Zischler, G. Utermann, R. Sanna, M. Kontodiou, A. Kinney, J. Kunz, A.W. Kuss, D. Kotzot, S.-Y. Kim, J. Cieslak, M. Tzimina, S.-Y. Park, B. Kociucka, M. Erdel, Shelby L. Brown, Y.-S. Park, V. Jobanputra, C. Yu, A.B. Hamid, Bianca Navarro, D. Warburton, E. Klein, A. Tzschach, R.G. Weber, H.-S. Lee, L. Thomaidis, F. Kasai, E. Elonen, F. Zölzer, S. Martin, Z. Freitinger Skalická, N. Kosyakova, J. Kline, S. Ninomiya, J. Zschocke, A. Tyybäkinoja, Eberhard Schneider, Satz Mengensatzproduktion, M.B. Petersen, E. Wohlleber, R. Havránková, A. Montella, V. Grossmann, N. El Hajj, E. Manolakos, I. Szczerbal, A. Dufke, Annette M. Müller, V. Kalscheuer, J. Škopek, Thomas Liehr, P. Bartmann, S. Orru, P. Nicolaides, D.-E. Lee, S. Mayer, Ivanela Kondova, M. Höckner, Ronald E. Bontrop, M.A. Moro, C. Fauth, U. Kordaß, C. Fozza, J.-W. Kim, E. Siomou, A. Spreiz, R.M. Nieddu, A. Frühmesser, L. Navrátil, P.M. Campus, L.R. Jensen, S. Knuutila, F. Cambosu, E. Engels, E. Fuchs, J. Rosina, Z. Hon, Druck Reinhardt Druck Basel, R. Räty, U. Zechner, B. Levy, S. Bağci, A. Usvasalo, M. Shirazi, Thomas Haaf, Ulla M. Saarinen-Pihkala, A.L. Berner, O. Rittinger, I. Saitis, I. Papoulidis, B.-Y. Lee, M. Longinotti, P.C.M. O’Brien, H.-M. Ryu, G. Fogu, M.A. Ferguson-Smith, J.-T. Seo, H. Reutter, S. Singer
Publikováno v: Cytogenetic and Genome Research. 136:I-IV
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::95fa90f94195148fc8793d403108e4f5
https://doi.org/10.1159/000339395
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2
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
Autor: James R. Lupski, M Theurl, Gabriel A. Bien-Willner, Pawel Stankiewicz, AL Shanske, AH Lane, Svetlana A. Yatsenko, M Leipoldt, M Erdel, Marta Smyk, Gerd Scherer
Publikováno v: Clinical Genetics. 71:67-75
The semilethal skeletal malformation syndrome campomelic dysplasia (CD) with or without XY sex reversal is caused by mutations within the SOX9 gene on 17q24.3 or by chromosomal aberrations (translocations, inversions or deletions) with breakpoints ou
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93a9a47a10bf17e22994d1b620de2ddf
https://doi.org/10.1111/j.1399-0004.2007.00736.x
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4
Complete cytogenetic remission in a patient with FIP1L1-PDGFRA fusion negative chronic eosinophilic leukemia associated with atypical thrombotic events
Autor: A. Zabernigg, M. Erdel, K. Gattringer, R. Schranzhofer, K. Berek
Publikováno v: memo - Magazine of European Medical Oncology. 1:39-41
We present a rare case of a patient with chronic eosinophilic leukemia, who did not develope the well known organ involvements of the heart, lungs, the skin or nervous system, but who suffered form atypical thrombotic complications including a life t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::74d7adce3208647e4be68da9d4007eed
https://doi.org/10.1007/s12254-008-0010-9
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5
Selected bibliography of Susumu Ohno
Autor: D. Meschede, W. Schempp, W. Traut, J. Klein, T.W. Glover, S.J. Palmer, J.T. Epplen, E.J.M. Santos, B.R. Migeon, R. Toder, J. Horst, M. Guttenbach, G. Bonnet, T. Matsunaga, C.V. Beechey, B. Choudhary, M. Cohn, D. Weichenhan, S. Ball, G. Bernardi, S. Lautsch, H. Winking, T. Vogel, E.Y. Cheng, K. Benirschke, N. Nassar, U. Wolf, J. Schmidtke, L.-S. Correa-Cerro, M. Sugimoto, W. Beçak, B. Kerem, T. Sharma, S.S. Wachtel, J. Zhang, A.T. Midro, K. Sperling, C. O’hUigin, V.V. Kapitonov, R. Lesniewicz, S.K. Mahadevaiah, W.R. Harrison, C. Geerkens, C. Dixkens, W. Just, H. Shibata, R.M. Cabrera, C.M. Disteche, M. Schartl, N. Zhdanova, J.A.M. Graves, U. Drews, S. Saccone, G.P. Holmquist, D.K. Lamatsch, M.F. Lyon, S. Zeitler, S.K. Davis, K. Bender, C. Klett, J. Bruch, G.G. Sharma, M.L. Houck, S. Henschel, N. Takagi, A.T. Kumamoto, R. Raman, H. Neitzel, P.S. Burgoyne, M. Erdel, O.L. Serov, A. Kollak, S. Jainta, S. Mizuno, Y. Hayashizaki, J. Jurka, F.A. Ponce de León, W. Rietschel, Y. Narain, B. Kunze, V. Kalscheuer, C. Ebenhoch, G. Beller, W. Rau, M. Held, A. Baumstark, J. Parzefall, T.J. Robinson, M. Digweed, S. Schmidt Drury, S.M. Gartler, M. Döbler, G. Wanner, Y.-F.C. Lau, H. Hameister, M.L. Beçak, H. Ogura, Y.-J. Chen, S. Takada, F.F.B. Elder, S. Ganesh, A. Ashworth, G. Scherer, K. Fredga, A. Sato, J. Perry, W. Vogel, I. Nanda, W. Mäueler, N. Mise, B.M. Cattanach, W. Feichtinger, H. Macgregor, R.P. Erickson, C. Federico, N.B. Atkin, S.-S. Tan, M. Schmid, I. Schlupp, K.M.S. Townsend, C. Steinlein
Publikováno v: Cytogenetic and Genome Research. 80:12-15
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2cb6077e25b3680f55832e9e23639ed
https://doi.org/10.1159/000014947
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6
Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10)
Autor: Simone Schuffenhauer, Gerd Utermann, Silvano Köchl, Bettina Buchholz, Hans-Christoph Duba, Uli Barth-Witte, M. Erdel, Barbara Utermann
Publikováno v: Human Genetics. 97:784-793
About 70% of patients with Prader-Willi syndrome (PWS) and Angelman syndrome (AS) have a common interstitial de novo microdeletion encompassing paternal (PWS) or maternal (AS) loci D15S9 to D15S12. Most of the non-deletion PWS patients and a small nu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3984e779a344e1fc47f24129e0069db0
https://doi.org/10.1007/bf02346190
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8
Contents Vol. 88, 2000
Autor: P.A. Voûte, D. Baudry, C.L. Keck-Waggoner, K. White, P.I. Patel, J.C. McHale, M. Busson-Leconiat, M. Pagano, C. Wiesmeijer, G.W. Conrad, M. Pettenati, P. Staeheli, E.R. Zabarovsky, C. Tiziana Storlazzi, Y. Xie, Z.E. Zehner, E. Gabrielson, C.A. Griffin, C. Geffrotin, E.A. Isakova, P. Spencer, J.E. Hewitt, A. Barbon, E. Sonnhammer, R.M. Schmid, B. Kazmierczak, P. Munclinger, F. Vitelli, N.A. Serdyukova, S.W. Scherer, B.G. Beatty, S. Meloche, M. Schmid, Y. Nakajima, M. Riemann, B. Brintnell, J. Laborda, N. Zijlstra, P.M. Brickell, L.A. James, J. Pellerin, T.K. Kwon, K. Yamakawa, P. van Tuinen, B.S. Klein, H.-J. Han, H. Winton, S.H. Elsea, D. Frynta, Y. Nakamura, M. Guttenbach, L. Carim, V.G. Malikov, M. van Geel, J.C.T. van Deutekom, U. Zechner, S. Barlati, P.A. Kroner, C.N. Vlangos, R. Podowski, N.C. Popescu, M.N. Meyer, I. Kärkkäinen, Ian Dunham, L. Leikepová, S. Beck, M. Escarceller, S. Bonné, F. Favara, S. Fineschi, F. Van Roy, J. Zima, E.S. Tasheva, T.P. Lushnikova, H.C. Duba, A.L. Hawkins, R. Berger, S. Sanders, J.M. Varley, Y. Furukawa, A.V. Polyakov, A. Protopopov, E.R. Werner, R.J.L.F. Lemmers, N. Andreu, A. van Staalduinen, J. Piálek, P.J. de Jong, E. Gubina, P.L. Perelman, L. Sumoy, M. Iizaka, A. Renieri, M. Loda, S. Ferraboli, C. Wahlestedt, M.H. Hofker, K. Vehse, H.M. Cann, C.F. Inglehearn, Lidia Larizza, P. Adamson, M.D. Torres, P. Benda, J. van Hengel, I. Meloni, E. Aikawa, H. Himmelbauer, M.A. Alvarez Soria, O.V. Sablina, E.E. Tarttelin, J. Justesen, R. Gizatullin, M.N. Ahmed, R. Karhu, Andries Westerveld, R.R. Frants, Mariano Rocchi, Cécile Jeanpierre, A. Marquardt, H. Hayes, S. Behrends, M. Erdel, P. Das, D.J Haile, J. Sádlová, R. Godbout, H. Markholst, N.V. Vorobieva, V.A. Trifonov, A.S. Graphodatsky, M. Ogawa, B.H.F. Weber, D.S. Chiaur, A. Duval, Marja Steenman, I. Nanda, C. Von Kap-Her, C. Cenciarelli, Marcel M.A.M. Mannens, K. Imai, W. Parks, T. Ueda, L. Hornum, H. Scholz, H. Akashi, D.L. Kruitbosch, W. Bradford, V. Kashuba, G. Inghirami, A.B. McKie, H. Hameister, K. Gopalbhai, Y. Hey, M.J. Ruiz-Hidalgo, S.S. Thorgeirsson, L.L. Hansen, D.B. Zimonjic, G.W. Padberg, A.J. Mungall, X. Estivill, J. Bullerdiek, D. Demetrick, G. Frelat, M.B. Qumsiyeh, G. Werner-Felmayer, I. Leverkoehne, S. Ganesh, S. Halford, K.-R. Kim, J. Greenwood, N. Kanda, C. Le Chalony, M.C. Dickson, H. Stöhr, J. Trowsdale, K. Amano, R. Hamelin, S. Sugano, S. Liptay, K. Sakamaki, A.-P.J. Huovila, A. Ziegler, A.D. Gruber, G. Zhao, S. Nagata, L. Zhu, V. Baladrón, P.M. Borodin, S. Murthy, D.M. Hunt, M. Meyer
Publikováno v: Cytogenetic and Genome Research. 88:337-339
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::659295b074d9fc4bfd4382ff1dade74e
https://doi.org/10.1159/000015526
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