Zobrazeno 1 - 10
of 223
pro vyhledávání: '"Birgit, Zirn"'
Autor:
Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr, Heike Kölbel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-17 (2019)
Abstract Background The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of α-dystroglycan. POMT1–related disorders belong to the group of dystroglycanopathies characterized by a proximally pronounce
Externí odkaz:
https://doaj.org/article/6d36a41fe83e42eb90c37bc08b33293b
Autor:
Cristina Has, Moritz Hess, Waltraud Anemüller, Ulrike Blume‐Peytavi, Steffen Emmert, Regina Fölster‐Holst, Jorge Frank, Kathrin Giehl, Claudia Günther, Johanna Hammersen, Kathrin Hillmann, Bettina Höflein, Peter H. Hoeger, Alrun Hotz, Thuy Anh Mai, Vinzenz Oji, Holm Schneider, Kira Süßmuth, Iliana Tantcheva‐Póor, Frederieke Thielking, Birgit Zirn, Judith Fischer, Antonia Reimer‐Taschenbrecker
Publikováno v:
Journal of the European Academy of Dermatology and Venereology. 37:402-410
Epidermolysis bullosa (EB) is a rare genetic disorder manifesting with skin and mucosal membrane blistering in different degrees of severity.Epidemiological data from different countries have been published, but none are available from Germany.In thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cfb5aa8b93967aceab2ce21881aca83
https://doi.org/10.1111/jdv.18637
https://doi.org/10.1111/jdv.18637
Autor:
Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G. Janzarik, Gerhard Kluger, Hiltrud Muhle, Rikke S. Møller, Konrad Platzer, Joana Larupa Santos, Iben Bache, Astrid Bertsche, Michaela Bonfert, Ingo Borggräfe, Philip J. Broser, Alexandre N. Datta, Trine Bjørg Hammer, Hans Hartmann, Anette Hasse-Wittmer, Marco Henneke, Hermann Kühne, Johannes R. Lemke, Oliver Maier, Eva Matzker, Andreas Merkenschlager, Joachim Opp, Steffi Patzer, Kevin Rostasy, Birgit Stark, Adam Strzelczyk, Celina von Stülpnagel, Yvonne Weber, Markus Wolff, Birgit Zirn, Georg Friedrich Hoffmann, Stefan Kölker, Steffen Syrbe
Publikováno v:
Biomedicines, Vol 8, Iss 11, p 456 (2020)
Pathogenic variants in PRRT2, encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed
Externí odkaz:
https://doaj.org/article/eb6e214b3abb422dac7278efdec1bac7
Autor:
Tim Ripperger, Winfried Hofmann, Jan C. Koch, Katayoon Shirneshan, Detlef Haase, Gerald Wulf, Peter R. Issing, Matthias Karnebogen, Gunnar Schmidt, Bernd Auber, Brigitte Schlegelberger, Thomas Illig, Birgit Zirn, Doris Steinemann
Publikováno v:
Haematologica, Vol 103, Iss 2 (2018)
Externí odkaz:
https://doaj.org/article/af110bbbb64a47e1928006932ade6439
Autor:
Judith Fischer, Leonie Frommherz, Cristina Has, Alexandra Krause, Alrun Hotz, Julia Kopp, Stefanie Hübner, Birgit Zirn, Antonia Reimer-Taschenbrecker, Federica Casetti
Publikováno v:
Journal of the European Academy of Dermatology and Venereology. 35:2293-2299
Background Non-syndromic congenital ichthyosis describes a heterogeneous group of hereditary skin disorders associated with erythroderma and scaling at birth. Although both severe and mild courses are known, the prediction of the natural history in c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b716fcc064a6b0c2f304b891c6ad397c
https://doi.org/10.1111/jdv.17524
https://doi.org/10.1111/jdv.17524
Autor:
Ataf Sabir, Andrea Superti-Furga, Belinda Campos-Xavier, Lorenzo D. Botto, C. Putti, Luisa Bonafé, Andrea Finocchi, Yasemin Alanay, Wendy D Jones, Chiara Mozzato, Daniela Zuccarello, Birgit Zirn, Christof M. Kramm, Ingrid Kühnle, Marie Meeths, Melita Irving, Laura Mazzanti, Ann Nordgren, Jan-Inge Henter, Giedre Grigelioniene, Gen Nishimura, Caterina Cancrini, Anna Hammarsjö, Emanuela Scarano, Sheila Unger, R. Bergamaschi, Birgit Borgström
Publikováno v:
American Journal of Medical Genetics Part A. 185:517-527
Bone dysplasias (osteochondrodysplasias) are a large group of conditions associated with short stature, skeletal disproportion, and radiographic abnormalities of skeletal elements. Nearly all are genetic in origin. We report a series of seven childre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8081f7eb7108e6ee1efcd767f4a36134
https://doi.org/10.1002/ajmg.a.62021
https://doi.org/10.1002/ajmg.a.62021
Autor:
Nicole Fleischer, Guy Nadav, Peter Krawitz, Birgit Zirn, Alexander Schmid, Matias Wagner, Magdalena Danyel, Stanislav Rosnev, Theresa Brunet, Tom Kamphans, Tobias B. Haack, Nadja Ehmke, Chengyao Peng, Alexej Knaus, Stephan Ossowski, Laura Mehnert, Maren Wenzel, Simon Dieck, Holger Fröhlich, Ashar Ahmad
Publikováno v:
NAR Genomics and Bioinformatics
Many rare syndromes can be well described and delineated from other disorders by a combination of characteristic symptoms. These phenotypic features are best documented with terms of the Human Phenotype Ontology (HPO), which are increasingly used in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9311c89d8e5d8fed1935b4c00684f699
https://doi.org/10.1093/nargab/lqab078
https://doi.org/10.1093/nargab/lqab078
Autor:
Eva Christina Prott, Angelo Selicorni, Cristina Gervasini, Axel Bohring, Alma Kuechler, Mark B. Mallozzi, Emanuele Agolini, Alisha Wilkens, Heiko Reutter, Barbara Mikat, Giuseppe Zampino, Yorck Hellenbroich, Eva Rossier, Denise Horn, Carolina Baquero-Montoya, Roberta Onesimo, Yiran Guo, Hakon Hakonarson, Chiara Leoni, Elaine H. Zackai, Yun Li, Dagmar Wieczorek, Frank J. Kaiser, Milena Mariani, Andreas Busche, Birgit Zirn, Andreas Dalski, Sally Ann Lynch, Livija Medne, Nuria C. Bramswig, Beate Albrecht, Donatella Milani, Xilma R. Ortiz-Gonzalez, Ilaria Parenti, Matthew A Deardorff, A. Micheil Innes, Britta Hanker, Irina Huening, Gabriele Gillessen-Kaesbach, Peter Wieacker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::902404dcbdaa40403724acccee7e7a22
https://doi.org/10.1111/cge.13977/v2/response1
https://doi.org/10.1111/cge.13977/v2/response1
Autor:
Carolina Baquero-Montoya, Heiko Reutter, Andreas Busche, Yiran Guo, A. Micheil Innes, Alisha Wilkens, Nuria C. Bramswig, Donatella Milani, Denise Horn, Birgit Zirn, Roberta Onesimo, Beate Albrecht, Alma Kuechler, Sally Ann Lynch, Xilma R. Ortiz-Gonzalez, Irina Hüning, Britta Hanker, Cristina Gervasini, Matthew A. Deardorff, Giuseppe Zampino, Gabriele Gillessen-Kaesbach, Peter Wieacker, Livija Medne, Andreas Dalski, Chiara Leoni, Milena Mariani, Eva Christina Prott, Barbara Mikat, Yorck Hellenbroich, Axel Bohring, Ilaria Parenti, Eva Rossier, Elaine H. Zackai, Angelo Selicorni, Dagmar Wieczorek, Emanuele Agolini, Mark B. Mallozzi, Frank J. Kaiser, Hakon Hakonarson, Yun Li
Publikováno v:
Clinical geneticsREFERENCES. 100(2)
Mutations affecting the transcriptional regulator ANKRD11 are mainly associated with the multisystem developmental disorder known as KBG syndrome, but have also been identified in individuals with Cornelia de Lange syndrome (CdLS) and other developme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::668804a0e706fdf645d64ce67eee4e7b
https://pubmed.ncbi.nlm.nih.gov/33955014
https://pubmed.ncbi.nlm.nih.gov/33955014
Autor:
Steffi Patzer, Konrad Platzer, Birgit Zirn, Trine Bjørg Hammer, Ingo Borggräfe, Johannes R. Lemke, Wibke G. Janzarik, Michaela Bonfert, K. Brockmann, Hermann Kühne, Kevin Rostasy, Joana Larupa Santos, Steffen Syrbe, Oliver Maier, Laura Ehrhardt, Hiltrud Muhle, Georg F. Hoffmann, Stefan Kölker, Jan Henje Döring, Philip J. Broser, Adam Strzelczyk, Afshin Saffari, Marco Henneke, Andreas Merkenschlager, Markus Wolff, Gerhard Kluger, Eva Matzker, Birgit Stark, Walid Fazeli, Rikke S. Møller, Thomas Bast, Yvonne G. Weber, Anette Hasse-Wittmer, Celina von Stülpnagel, Iben Bache, Astrid Bertsche, Hans Hartmann, Alexandre N. Datta, Joachim Opp
Publikováno v:
Döring, J H, Saffari, A, Bast, T, Brockmann, K, Ehrhardt, L, Fazeli, W, Janzarik, W G, Kluger, G, Muhle, H, Møller, R S, Platzer, K, Santos, J L, Bache, I, Bertsche, A, Bonfert, M, Borggräfe, I, Broser, P J, Datta, A N, Hammer, T B, Hartmann, H, Hasse-Wittmer, A, Henneke, M, Kühne, H, Lemke, J R, Maier, O, Matzker, E, Merkenschlager, A, Opp, J, Patzer, S, Rostasy, K, Stark, B, Strzelczyk, A, von Stülpnagel, C, Weber, Y, Wolff, M, Zirn, B, Hoffmann, G F, Kölker, S, Syrbe, S & PRRT2-Study-Group 2020, ' The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood ', Biomedicines, vol. 8, no. 11, 456, pp. 1-14 . https://doi.org/10.3390/biomedicines8110456
Biomedicines
Biomedicines, Vol 8, Iss 456, p 456 (2020)
Volume 8
Issue 11
BASE-Bielefeld Academic Search Engine
Döring, J H, Saffari, A, Bast, T, Brockmann, K, Ehrhardt, L, Fazeli, W, Janzarik, W G, Kluger, G, Muhle, H, Møller, R S, Platzer, K, Santos, J L, Bache, I, Bertsche, A, Bonfert, M, Borggräfe, I, Broser, P J, Datta, A N, Hammer, T B, Hartmann, H, Hasse-Wittmer, A, Henneke, M, Kühne, H, Lemke, J R, Maier, O, Matzker, E, Merkenschlager, A, Opp, J, Patzer, S, Rostasy, K, Stark, B, Strzelczyk, A, von Stülpnagel, C, Weber, Y, Wolff, M, Zirn, B, Hoffmann, G F, Kölker, S, Syrbe, S & PRRT2-Study-Group 2020, ' The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood ', Biomedicines, vol. 8, no. 11, 456 . https://doi.org/10.3390/biomedicines8110456
Biomedicines
Biomedicines, Vol 8, Iss 456, p 456 (2020)
Volume 8
Issue 11
BASE-Bielefeld Academic Search Engine
Döring, J H, Saffari, A, Bast, T, Brockmann, K, Ehrhardt, L, Fazeli, W, Janzarik, W G, Kluger, G, Muhle, H, Møller, R S, Platzer, K, Santos, J L, Bache, I, Bertsche, A, Bonfert, M, Borggräfe, I, Broser, P J, Datta, A N, Hammer, T B, Hartmann, H, Hasse-Wittmer, A, Henneke, M, Kühne, H, Lemke, J R, Maier, O, Matzker, E, Merkenschlager, A, Opp, J, Patzer, S, Rostasy, K, Stark, B, Strzelczyk, A, von Stülpnagel, C, Weber, Y, Wolff, M, Zirn, B, Hoffmann, G F, Kölker, S, Syrbe, S & PRRT2-Study-Group 2020, ' The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood ', Biomedicines, vol. 8, no. 11, 456 . https://doi.org/10.3390/biomedicines8110456
Pathogenic variants in PRRT2, encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::886cd8b036616df0ed676ae6cdf586a2
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/56837
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/56837