Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Regine Schubert"'
Autor:
Thomas Eggermann, Matthias Begemann, Gisela Raabe-Meyer, Lukas Soellner, R. Scheuvens, Miriam Elbracht, D. Meschede, Regine Schubert
Publikováno v:
Clinical Genetics. 92:45-51
Maternal uniparental disomy of chromosome 16 [upd(16)mat] as the result of trisomy 16 is one of the most frequently reported uniparental disomies in humans, but a consistent phenotype is not obvious. Particularly, it is difficult to discriminate betw
Autor:
Ulrike Gamerdinger, Sabrina Spengler, Katja Eggermann, Javad Karimzad Hagh, Thomas Eggermann, Gesa Schwanitz, Isa Abdi Rad, Mir Davood Omrani, Regine Schubert, Herdit M. Schüler, Magdalena Gogiel, Miriam Elbracht
Publikováno v:
American Journal of Medical Genetics Part A. 164:736-740
The genetic relevance of small supernumerary marker chromosomes (sSMCs) depends on their content of euchromatin. In case of mosaicism, the phenotype of the carrier furthermore is influenced by the distribution of the marker in the body. In the majori
Autor:
Regine Schubert
Essen und Trinken im Mittelalter – hier geht es um ein grundlegendes Thema der Menschheit, grundlegend jedenfalls für Zeiten, die Nahrungsmittel nicht im Überfluss kannten, meist sogar Mangel litten. Ernst Schubert macht aus einem kulinarischen T
Autor:
S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi
Publikováno v:
International JSRD Study Group 2010, ' Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ', Human Mutation, vol. 31, no. 5, pp. E1319-E1331 . https://doi.org/10.1002/humu.21239
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genet
Autor:
Thomas Eggermann, Barbara Panasiuk, Klaus Zerres, Anna Jelska, Hartmut Engels, Anna Latos-Bielenska, Alina T. Midro, Lucjusz Jakubowski, Jacek Zaremba, Herdit M. Schüler, Gesa Schwanitz, Almut Caliebe, Regine Schubert
Publikováno v:
American Journal of Medical Genetics Part A. :2611-2616
Robertsonian translocations 13/14 are the most common chromosome rearrangements in humans. However, most studies aimed at determining risk figures are more than 20 years old. Their results are often contradictory regarding important topics in genetic
Autor:
Thomas Eggermann, Ulrike Gamerdinger, Regine Schubert, Gesa Schwanitz, Martina Kreiss-Nachtsheim
Publikováno v:
American Journal of Medical Genetics Part A. :1180-1184
The female carrier of a de novo interstitial deletion 9q [karyotype 46,XX,del(9)(q31.2q33.1)] was followed up over a period of more than 20 years. She shows facial dysmorphisms and significant growth retardation. Motor abilities are restricted by mus
Publikováno v:
International Journal of Human Genetics. 4:173-178
KEYWORDS Spectral karyotyping; SKY; unbalanced translocation 12/14 de novo; dup 12q24; euchromatin- heterochromatin rearrangement ABSTRACT A boy with a duplication 12q24 to qter shows the characteristic phenotype of this chromosome abnormality. The a
Publikováno v:
International Journal of Human Genetics. 2:101-106
We report on the cytogenetic and mo- lecular-genetic investigations of a child with mosaic tri- somy 8, analysed over a period of eleven years. The female patient showed clinical features and facial dysmorphisms characteristic of the syndrome as well
Autor:
Ulrike Gamerdinger, Katja Ahlbory, Regine Schubert, Ursula Kremens-Korsch, Gesa Schwanitz, Sabrina Spengler, Eckhard Korsch, Christiane Heidrich-Kaul, Thomas Eggermann
Publikováno v:
European Journal of Medical Genetics. 54:e465-e467
Autor:
Hans-Udo Schweikert, Katrin van der Ven, P. Brühl, Regine Schubert, Ruth Raff, Gesa Schwanitz
Publikováno v:
Klinische Pädiatrie. 210:400-405
If hermaphrodite genitals are present in the patient or a higher degree of hypospadia is shown with maldescensus testis, a chromosomal disorder must be considered as one potential cause of the anomaly. The case report of a child with cryptorchidism o