Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Gertrud Strobl‐Wildemann"'
Autor:
Dennis Witt, Ulrike Faust, Gertrud Strobl‐Wildemann, Marc Sturm, Rebecca Buchert, Theresia Zuleger, Jakob Admard, Nicolas Casadei, Stephan Ossowski, Tobias B. Haack, Olaf Rieß, Christopher Schroeder
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Abstract Background Lynch syndrome is one of the most common cancer predisposition syndromes. It is caused by inherited changes in the mismatch repair pathway. With current diagnostic approaches, a causative genetic variant can be found in less than
Externí odkaz:
https://doaj.org/article/a2de4ff48ae340b18add3eba04f75192
Autor:
Dennis Witt, Ulrike Faust, Gertrud Strobl‐Wildemann, Marc Sturm, Rebecca Buchert, Theresia Zuleger, Jakob Admard, Nicolas Casadei, Stephan Ossowski, Tobias B. Haack, Olaf Rieß, Christopher Schroeder
Publikováno v:
Molecular Genetics & Genomic Medicine.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::faceddba13e4dc930c297a308034ff05
https://doi.org/10.1002/mgg3.2151
https://doi.org/10.1002/mgg3.2151
Autor:
Petra Pavelekova, Felix Distelmaier, Gloria Sarah Leszinski, Tim M. Strom, Ján Necpál, S. Leiz, Urania Kotzaeridou, Petra Havránková, Timo Roser, Maja Hempel, Ingo Borggraefe, Korbinian M. Riedhammer, Reka Kovacs, Matej Skorvanek, Melanie Brugger, Bader Alhaddad, Robert Jech, Matias Wagner, Riccardo Berutti, Sebastian A. Schroeder, Dominik S. Westphal, Thomas Meitinger, Georg F. Hoffmann, Theresa Brunet, Elisabeth Graf, Gertrud Strobl-Wildemann, Christine Makowski, Sandrina Weber, Juliane Winkelmann, Robert Steinfeld, Julia Hoefele, Michael Zech, Katharina Mayerhanser, Isabella Mahle
Publikováno v:
Clinical Genetics
Clin. Genet. 100, 14-28 (2021)
Clin. Genet. 100, 14-28 (2021)
Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability, developmental delay, autism spectrum disorder, and developmental motor abnormalities have a documented underlying monogenic defect, primarily due to de novo variants. S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e55311659545a5af095740c4cb6d958
Autor:
Martin Haeussler, Otfried Debus, Saskia M. Herbst, Rita Morgner, T. Geis, Joerg Budde, Gertrud Strobl-Wildemann, Ute Hehr, Kerstin Muelleder, Nathalie Beaud, Deborah J. Morris-Rosendahl, Matthias Ensslen, Michael Gilbert, Christiane R. Proepper, Sophia Ross, Andreas Hahn, Gero von Gersdorff, Heike Philippi, Paul Vosschulte, Ingo Borggraefe, Ralf Heiming, Gerhard Schuierer, Gerhard Kurlemann
Publikováno v:
Brain and Development. 38:399-406
Background: Patients with LIS1-associated classic lissencephaly typically present with severe psychomotor retardation and drug resistant epilepsy within the first year. Aim: To analyze the epileptogenic phenotype and response to antiepileptic therapy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90cc13a9ff423e5cdac7f1f6cd43a060
https://doi.org/10.1016/j.braindev.2015.10.001
https://doi.org/10.1016/j.braindev.2015.10.001
Autor:
Matias Wagner, Gertrud Strobl-Wildemann, Stephanie Andres, Gloria Sarah Leszinski, Korbinian M. Riedhammer
Publikováno v:
Movement Disorders. 33:1665-1666
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2e01ed609530a4bd656f882cd75f882a
https://doi.org/10.1002/mds.27481
https://doi.org/10.1002/mds.27481
Autor:
Hans Offenbacher, Hans-Peter Hartung, Piet Auer-Grumbach, T. Robl, Renate Fischer, Ernst B. Zwick, Michaela Auer-Grumbach, Christian Windpassinger, Hanns Lochmüller, Gerald Hartl, Beate Schlotter-Weigel, Klaus Wagner, Gertrud Strobl‐Wildemann
Publikováno v:
Annals of Neurology. 57:415-424
Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. We report the phenotypic consequences of the N88S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ab87deceebe2a91df27488233740d26
https://doi.org/10.1002/ana.20410
https://doi.org/10.1002/ana.20410
Autor:
Katrin Hinderhofer, Karl Hackmann, Diana Mitter, Bianca Maas, Ute Moog, Anna Jauch, Ulrich Haug, Gertrud Strobl-Wildemann, Christina Evers, Johannes W.G. Janssen
Publikováno v:
American journal of medical genetics. Part A. (3)
In females, large duplications in Xp often lead to preferential inactivation of the aberrant X chromosome and a normal phenotype. Recently, a recurrent ∼4.5 Mb microduplication of Xp11.22-p11.23 was found in females with developmental delay/intelle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7213c099fdccb9b7b596e35345cf5245
https://pubmed.ncbi.nlm.nih.gov/25691408
https://pubmed.ncbi.nlm.nih.gov/25691408
Autor:
Gabriele Wildhardt, Oliver Bartsch, Axel Bohring, Gertrud Strobl-Wildemann, Markus Suckfüll, Juliane Wechtenbruch, Annegret Buske, Marie T. Greally, Christian Kubisch, Stefanie Vogt, Birgit Zirn, Daniela Steinberger, Luitgard Graul-Neumann
Publikováno v:
BMJ Open
Objectives Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital hearing loss and pigmentation anomalies. Our study intended to determine the frequency of mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d80378beec3c5ebc6e678b02894e352
http://europepmc.org/articles/PMC3612789
http://europepmc.org/articles/PMC3612789
Autor:
Sonja Beicht, Elke Kaminsky, Hanns-Georg Klein, Lutz T. Weber, Sabine Rath, Gertrud Strobl-Wildemann, Martin Alberer, Oliver Wachter, Tanja Hinrichsen, Julia Hoefele
Publikováno v:
Gene. 526(2)
Alport syndrome (ATS) is a progressive hereditary nephropathy characterized by hematuria and/or proteinuria with structural defects of the glomerular basement membrane. It can be associated with extrarenal manifestations (high-tone sensorineural hear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c75739072bbe361dab52a140a0b32099
https://pubmed.ncbi.nlm.nih.gov/23732293
https://pubmed.ncbi.nlm.nih.gov/23732293
Autor:
Magdalena Gogiel, Gertrud Strobl-Wildemann, Sabrina Spengler, Matthias Begemann, Thomas Eggermann, Ulf Göretzlehner, Lukas Soellner
Publikováno v:
European journal of human genetics : EJHG. 21(7)
Uniparental disomy (UPD) of single chromosomes is a well-known molecular aberration in a group of congenital diseases commonly known as imprinting disorders (IDs). Whereas maternal and/or paternal UPD of chromosomes 6, 7, 11, 14 and 15 are associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::250ba3aae54a48ed54f1a857b1fb4963
https://pubmed.ncbi.nlm.nih.gov/23188046
https://pubmed.ncbi.nlm.nih.gov/23188046