Zobrazeno 1 - 10
of 107
pro vyhledávání: '"M, Meins"'
Publikováno v:
Ports 2016.
Instrumentation of a marine terminal during close-in underwater blasting included in-rock and wharf-mounted geophones and water pressure sensors adjacent to piles. Limits placed on vibrations and pile cap shear strains were 25 in/s (635 mm/s) and 467
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::afd75aa333437209c04c11d1c5a1fc51
https://doi.org/10.1061/9780784479902.024
https://doi.org/10.1061/9780784479902.024
Autor:
Elisabeth Ewers, Samarth Bhatt, P. Hickmann, Nadezda Kosyakova, S.W. Cheung, Susanne Morlot, Vivien Klaschka, Anja Weise, Thomas Liehr, Rolf-Dieter Wegner, M. Meins, Sophie Hinreiner, Philippos C. Patsalis, Kristin Mrasek, Wei-Wen Cai, Markus Stumm
Publikováno v:
Cytogenetic and Genome Research. 124:102-105
Directly transmitted unbalanced chromosomal abnormalities (UBCA) or euchromatic variants (EV) were recently reported for >50 euchromatic regions of almost all human autosomes. UBCA and EV are comprised of a few megabases of DNA, and carriers are in m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4b251411849a8a802a5f460b61a40da
https://doi.org/10.1159/000200094
https://doi.org/10.1159/000200094
Autor:
Jens Frahm, Folker Hanefeld, Jürgen Sperner, Ulrich Stephani, Peter Dechent, Mechthild Haupt, K. Brockmann, M. Meins
Publikováno v:
Journal of Neurology. 250:300-306
Alexander disease (AD) is a rare genetic disorder of the central nervous system due to a dysfunction of astrocytes. The most common infantile form presents as a progressive leukodystrophy with macrocephalus. Recently, heterozygous de novo mutations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c41b29b79ec6cdbe5d823503f688ead
https://doi.org/10.1007/s00415-003-0995-2
https://doi.org/10.1007/s00415-003-0995-2
Publikováno v:
European Neurology. 50:100-105
The recent discovery of heterozygous de novo mutations in the glial fibrillary acidic protein (GFAP) gene as the cause of infantile and juvenile Alexander disease has shed new light on the long-standing debate whether the adult subtype has the same e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8c74abaf0e2ac800b84a502bc2105781
https://doi.org/10.1159/000072507
https://doi.org/10.1159/000072507
Autor:
Anja Weise, Jürgen Kohlhase, R. Trappe, Iris Bartels, Peter Burfeind, Detlef Böhm, G. Essers, M. Meins, Barbara Zoll, Thomas Liehr
Publikováno v:
Cytogenetic and Genome Research. 98:1-8
In the present study, we present a novel reciprocal translocation t(2;20)(p24.1;q13.1) and its segregation in a three generation family. The rate of miscarriages (50%) in pregnancies from male translocation carriers could be explained by unbalanced t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdc68cec0c5689ae20775e7a468856ba
https://doi.org/10.1159/000068533
https://doi.org/10.1159/000068533
Autor:
Wilhelm C, Missbach J, Peter Burfeind, Schlickum S, M. Grzmil, Yadav S, F. Laccone, M. Meins, Gläser B
Publikováno v:
Cytogenetic and Genome Research. 97:254-260
RNA-binding proteins are involved in post-transcriptional processes like mRNA stabilization, post-transcriptional modification, and transport and have been suggested to play an important role in developmental gene regulation. We report here the cloni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f36f7c71f85dbf843033fa8b55e454b5
https://doi.org/10.1159/000066619
https://doi.org/10.1159/000066619
Autor:
S.M. White, R. Mollicone, M. Rozek, Z. Tümer, T. Opiola, J.-J. Candelier, C.R. Bonvicino, H. Winking, A. Hebinck, H. Kuiper, Ch. Zühlke, H. Yasue, J.M. Perez de la Lastra, S. Kiuchi, A. Pienkowska, N. Arnal, B. Gläser, C. Ngo, H. Mehenni, C. Steinlein, P.S. D’Andrea, R.P.M.A. Crooijmans, A. Eggen, C. Zijlstra, M. Yerle, U. Butzmann, S.E. Antonarakis, Y.E. Shahein, E. Anton, R. Korstanje, D.F. de Andres-Cara, N.A. de Haan, R. Heilig, B. Brenig, J. Egozcue, C. Delcros, M. Østergaard, G.F. Gillissen, A. Wandall, R. Kreutz, R.J. McKinlay Gardner, F. Piumi, M. Mahony, A. Robic, C. Ozouf-Costaz, N. Tommerup, T. Haaf, C. Rodellar, C. Szpirer, F. Vidal, P.A. Ioannou, P.M. Kroisel, C. Drögemüller, K. Buchet-Poyau, Y. Takagaki, T.L. Harboe, C. Wilhelm, F. Porto-Foresti, J. Barciszewski, A.C.M. Bonné, M.T. Roldan-Arjona, C. Rogel-Gaillard, H. Hiraiwa, Y. Muneta, M. Grzmil, P. Zaragoza, C. Bonillo, H.A. van Lith, J. Kunz, A. Dalski, O. Distl, F. Laccone, D. Milan, C. Windpassinger, T. Awata, H. Uenishi, J. Szpirer, R. Fries, A.A. Bosma, F. Foresti, M.F.Z. Daniel-Silva, H. Hayes, R. Roy, H. Omran, P. Pinton, S. Schlickum, E. Petek, E. Schwinger, L. Li, P. Coullin, C. Knorr, L.F.M. van Zutphen, J. Blanco, H.P. Klinger, A. Volz, J. Mißbach, I.B. Otazu, E. Northrop, C. Andersen, P. Burfeind, M. Den Bieman, M. Meins, R. Melkaoui, J. Beck, U. Radhakrishna, M. Gautier, R. Oriol, L.F. Almeida-Toledo, I. Nanda, K. Wagner, F. Habermann, V. Petrovic, M. Schmid, R. Yamamoto, P. Moore, P. van Vooren, G. Hauke, H. Zürcher, F. Hildebrandt, C.G. Ziegler, J. Koch, P. Laurent, J.L. Williams, M.A.M. Groenen, J.J. Garrido, C. Schelling, S. Yadav, C. Kosan, H.R. Slater
Publikováno v:
Cytogenetic and Genome Research. 97:261-275
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::25ae8045d27dfe35b1f201845d6a7df6
https://doi.org/10.1159/000066630
https://doi.org/10.1159/000066630
Publikováno v:
Human Mutation. 17:183-190
Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disease. We investigated 125 sporadic cases of Rett syndrome by direct sequencing. Thirty diffe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cf00b1e6654065b1f400a2151ec0f91
https://doi.org/10.1002/humu.3
https://doi.org/10.1002/humu.3
Autor:
Monika Ziegler, Anja Weise, Nadezda Kosyakova, Mariano Rocchi, A. Ovens-Raeder, C. Kraus, Susanne Morlot, W. Fischer, A Polityko, C. Mackie Ogilvie, M. Meins, Marianne Volleth, Elisabeth Klein, Thomas Liehr
Since the first report in 1993, an ectopic centromere, i.e. neocentromere formation, has been reported in more than 100 small supernumerary marker chromosomes (sSMC), in 7 instances of centromere repositioning, and in about a dozen cases with more co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fe1f8bd6a66e8d25738091d6e1009b6
https://opus4.kobv.de/opus4-fau/files/468/CGR2012136003163.pdf
https://opus4.kobv.de/opus4-fau/files/468/CGR2012136003163.pdf
Autor:
E. Petek, M. Rozek, Z. Tümer, S.E. Antonarakis, E. Anton, Ch. Zühlke, J.L. Williams, U. Butzmann, M.A.M. Groenen, E. Northrop, A.C.M. Bonné, J.M. Perez de la Lastra, H.R. Slater, N.A. de Haan, R. Heilig, C. Delcros, Y.E. Shahein, J.J. Garrido, F. Porto-Foresti, M. Østergaard, C. Steinlein, A. Robic, G.F. Gillissen, A. Volz, R.J. McKinlay Gardner, T.L. Harboe, B. Brenig, R. Korstanje, S.M. White, M. Den Bieman, R. Melkaoui, R. Kreutz, F. Piumi, J. Beck, D.F. de Andres-Cara, T. Haaf, C. Rodellar, U. Radhakrishna, M. Gautier, N. Tommerup, K. Wagner, I. Nanda, K. Buchet-Poyau, L.F. Almeida-Toledo, P.S. D’Andrea, P.M. Kroisel, M. Grzmil, C. Schelling, M. Mahony, C. Drögemüller, J. Barciszewski, M. Meins, F. Vidal, C. Zijlstra, S. Yadav, C. Bonillo, C. Kosan, V. Petrovic, J. Egozcue, F. Habermann, M. Schmid, R. Roy, A.A. Bosma, F. Foresti, C. Windpassinger, H. Uenishi, R. Yamamoto, H. Hiraiwa, A. Dalski, R. Mollicone, J. Szpirer, R. Fries, C. Wilhelm, R. Oriol, C. Ozouf-Costaz, M.F.Z. Daniel-Silva, H. Hayes, E. Schwinger, P. Coullin, C. Andersen, P. Pinton, M.T. Roldan-Arjona, C. Rogel-Gaillard, J.-J. Candelier, L.F.M. van Zutphen, H.A. van Lith, P.A. Ioannou, O. Distl, H. Omran, J. Kunz, S. Schlickum, T. Awata, L. Li, H. Kuiper, H.P. Klinger, P. van Vooren, S. Kiuchi, J. Mißbach, N. Arnal, A. Pienkowska, D. Milan, C. Ngo, H. Mehenni, R.P.M.A. Crooijmans, T. Opiola, B. Gläser, I.B. Otazu, C.R. Bonvicino, H. Winking, A. Hebinck, J. Blanco, A. Eggen, A. Wandall, C. Knorr, C. Szpirer, H. Zürcher, F. Hildebrandt, C.G. Ziegler, Y. Takagaki, J. Koch, P. Laurent, P. Burfeind, H. Yasue, P. Moore, M. Yerle, G. Hauke, Y. Muneta, P. Zaragoza, F. Laccone
Publikováno v:
Cytogenetic and Genome Research. 97:281-283
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09d9aaf56d596b52987a21cccd03e2fe
https://doi.org/10.1159/000067876
https://doi.org/10.1159/000067876