Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Georg C, Schwabe"'
Autor:
Victor B. Pastor, Sushree S. Sahoo, Jessica Boklan, Georg C. Schwabe, Ebru Saribeyoglu, Brigitte Strahm, Dirk Lebrecht, Matthias Voss, Yenan T. Bryceson, Miriam Erlacher, Gerhard Ehninger, Marena Niewisch, Brigitte Schlegelberger, Irith Baumann, John C. Achermann, Akiko Shimamura, Jochen Hochrein, Ulf Tedgård, Lars Nilsson, Henrik Hasle, Melanie Boerries, Hauke Busch, Charlotte M. Niemeyer, Marcin W. Wlodarski
Publikováno v:
Haematologica, Vol 103, Iss 3 (2018)
Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting
Externí odkaz:
https://doaj.org/article/76b79cce8e0e4cd59cccd8b0ca3182ac
Autor:
Martin Stanulla, Martin Zimmermann, Melchior Lauten, Holger J. Schünemann, Paul G. Schlegel, Anja Möricke, Simon Modlich, Svitlana Igel, Sabine Illsinger, Georg C. Schwabe, Peter Schütte, Martin Schrappe, Gudrun Fleischhack, Matthias Schwab, Claudia Rossig, Laura Hinze, Gunnar Cario, Kjeld Schmiegelow, Elke Schaeffeler, Swantje Buchmann, Christian P. Kratz, Christian Flotho, Hans Hartmann, Stefanie V. Junk, Astrid Gnekow, Axel Sauerbrey, R Kolb
Publikováno v:
Leukemia
Stanulla, M, Schaeffeler, E, Möricke, A, Buchmann, S, Zimmermann, M, Igel, S, Schmiegelow, K, Flotho, C, Hartmann, H, Illsinger, S, Sauerbrey, A, Junk, S V, Schütte, P, Hinze, L, Lauten, M, Modlich, S, Kolb, R, Rossig, C, Schwabe, G, Gnekow, A K, Fleischhack, G, Schlegel, P G, Schünemann, H J, Kratz, C P, Cario, G, Schrappe, M & Schwab, M 2021, ' Hepatic sinusoidal obstruction syndrome and short-term application of 6-thioguanine in pediatric acute lymphoblastic leukemia ', Leukemia, vol. 35, no. 9, pp. 2650-2657 . https://doi.org/10.1038/s41375-021-01203-7
Stanulla, M, Schaeffeler, E, Möricke, A, Buchmann, S, Zimmermann, M, Igel, S, Schmiegelow, K, Flotho, C, Hartmann, H, Illsinger, S, Sauerbrey, A, Junk, S V, Schütte, P, Hinze, L, Lauten, M, Modlich, S, Kolb, R, Rossig, C, Schwabe, G, Gnekow, A K, Fleischhack, G, Schlegel, P G, Schünemann, H J, Kratz, C P, Cario, G, Schrappe, M & Schwab, M 2021, ' Hepatic sinusoidal obstruction syndrome and short-term application of 6-thioguanine in pediatric acute lymphoblastic leukemia ', Leukemia, vol. 35, no. 9, pp. 2650-2657 . https://doi.org/10.1038/s41375-021-01203-7
Long-term treatment with 6-thioguanine (6-TG) for pediatric acute lymphoblastic leukemia (ALL) is associated with high rates of hepatic sinusoidal obstruction syndrome (SOS). Nevertheless, current treatment continues to use short-term applications of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2097cbe574d45d3e2858da69aa6eb187
https://pubmed.ncbi.nlm.nih.gov/33714975
https://pubmed.ncbi.nlm.nih.gov/33714975
Autor:
Brigitte Schlegelberger, Melanie Boerries, Ulf Tedgård, Brigitte Strahm, Gerhard Ehninger, Miriam Erlacher, John C. Achermann, Matthias Voss, Hauke Busch, Jochen Hochrein, Irith Baumann, Victor B Pastor, Lennart Nilsson, Marena R. Niewisch, Yenan T. Bryceson, Dirk Lebrecht, Jessica Boklan, Georg C. Schwabe, Ebru Tugrul Saribeyoglu, Charlotte M. Niemeyer, Henrik Hasle, Sushree Sangita Sahoo, Akiko Shimamura, Marcin W. Wlodarski
Publikováno v:
Haematologica
Pastor, V B, Sahoo, S, Boklan, J, Schwabe, G C, Saribeyoglu, E, Strahm, B, Lebrecht, D, Voss, M, Bryceson, Y T, Erlacher, M, Ehninger, G, Niewisch, M, Schlegelberger, B, Baumann, I, Achermann, J C, Shimamura, A, Hochrein, J, Tedgård, U, Nilsson, L, Hasle, H, Boerries, M, Busch, H, Niemeyer, C M & Wlodarski, M W 2018, ' Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7 ', Haematologica, vol. 103, no. 3, pp. 427-437 . https://doi.org/10.3324/haematol.2017.180778
Pastor, V B, Sahoo, S, Boklan, J, Schwabe, G C, Saribeyoglu, E, Strahm, B, Lebrecht, D, Voss, M, Bryceson, Y T, Erlacher, M, Ehninger, G, Niewisch, M, Schlegelberger, B, Baumann, I, Achermann, J C, Shimamura, A, Hochrein, J, Tedgård, U, Nilsson, L, Hasle, H, Boerries, M, Busch, H, Niemeyer, C M & Wlodarski, M W 2018, ' Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7 ', Haematologica, vol. 103, no. 3, pp. 427-437 . https://doi.org/10.3324/haematol.2017.180778
Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd6697ad7376bd525d80809dec365795
http://europepmc.org/articles/PMC5830370
http://europepmc.org/articles/PMC5830370
Autor:
Lisa Lyngsie Hjalgrim, Georg C. Schwabe, Peter Lang, Wilhelm Woessmann, Daniel Steinbach, Holger Hebart, Edita Kabickova, Stephanie Ruf
Publikováno v:
Pediatric bloodcancer. 65(6)
Vinblastine and targeted therapies induce remissions in patients with relapsed or progressive anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma (ALCL). Central nervous system (CNS) prophylaxis often is not included during re-in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503e6243ff4a49e27a525faf7ae94ead
https://pubmed.ncbi.nlm.nih.gov/29512859
https://pubmed.ncbi.nlm.nih.gov/29512859
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations
Autor:
Ulrich Wahn, Mirella Collura, Niki Tomas Loges, Manfred Fliegauf, Jean-Louis Blouin, Stefan Mundlos, Stylianos E. Antonarakis, Heymut Omran, Heike Olbrich, M. Margherita de Santi, Katrin Hoffmann, Daniel Birker, Bodo Niggemann, Uta Liebers, Georg C. Schwabe, Lucia Bartoloni, Colette Rossier, Gerhard Gaedicke, Mike Failly
Publikováno v:
Human Mutation, Vol. 29, No 2 (2008) pp. 289-98
Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by perturbed or absent beating of motile cilia, which is referred to as Kartagener syndrome (KS) when associated with situs inversus. We present a German family in which five ind
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41c878670f9e6069a086197554a78a87
https://doi.org/10.1002/humu.20656
https://doi.org/10.1002/humu.20656
Autor:
Osama A. Elsalini, Klaus B. Rohr, Georg C. Schwabe, Stefan Mundlos, Nele Haufs, Pamela Schrumpf, Burkhard Alt, Nathan D. Lawson, Annette Grüters, Heiko Krude
Publikováno v:
Development
During vertebrate development, the thyroid gland undergoes a unique relocalisation from its site of induction to a distant species-specific position in the cervical mesenchyme. We have analysed thyroid morphogenesis in wild-type and mutant zebrafish
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::058a4cd5bcaacd9738266a304d4e4199
https://doi.org/10.1242/dev.02550
https://doi.org/10.1242/dev.02550
Autor:
Walter Sebald, Anke Hartung, Jens Pohl, Yasuhiro Minami, Georg C. Schwabe, Michael Hanke, Isao Oishi, Christina Sieber, Marei Sammar, Sigmar Stricker, Stefan Mundlos, Petra Knaus
Publikováno v:
Genes to Cells. 9:1227-1238
The brachydactylies are a group of inherited disorders of the hands characterized by shortened digits. Mutations in the tyrosine kinase receptor Ror2 cause brachydactyly type B (BDB). Mutations in GDF5, a member of the BMP/TGF-β ligand family, cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4730bc01e2325cd83badc3b21e4c99f9
https://doi.org/10.1111/j.1365-2443.2004.00799.x
https://doi.org/10.1111/j.1365-2443.2004.00799.x
Autor:
Georg C. Schwabe, Norbert Brieske, Abigail S. Tucker, Kathrin Süring, Britta Trepczik, Stefan Mundlos, Paul T. Sharpe, Yasuhiro Minami
Publikováno v:
Developmental Dynamics. 229:400-410
Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic limb shortening, vertebral and craniofacial malformations and small external genitals. We have analyzed Ror2 -/- mice as a model for the developmental pathology of RS. Our
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12825e4a3a259abaea8c7b554c7d610a
https://doi.org/10.1002/dvdy.10466
https://doi.org/10.1002/dvdy.10466
Autor:
Georg C. Schwabe, Stefan Mundlos
Publikováno v:
Handchirurgie · Mikrochirurgie · Plastische Chirurgie. 36:85-97
Congenital limb malformations exhibit a wide spectrum of phenotypic manifestations and may occur as an isolated malformation and as part of a syndrome. They are individually rare, but due to their overall frequency and severity they are of clinical r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb1dff1fa0d07927246db17bfaeb095a
https://doi.org/10.1055/s-2004-817884
https://doi.org/10.1055/s-2004-817884
Autor:
Stefan Mundlos, Georg C. Schwabe, Sukru Palanduz, Brigitte Stöver, Seval Türkmen, Gundula Leschik, Timm O. Goecke
Publikováno v:
American Journal of Medical Genetics Part A. :356-363
Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little finger with hyperphalangy, usually of the index and middle finger. Heterozygous mutations of the cartilage derived morphogenetic protei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bbe1f19508f5bddd2ed061cac10665c8
https://doi.org/10.1002/ajmg.a.20349
https://doi.org/10.1002/ajmg.a.20349