Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Tilman Heinrich"'
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report
Autor:
Nicole Weisschuh, Pascale Mazzola, Tilman Heinrich, Tobias Haack, Bernd Wissinger, Felix Tonagel, Carina Kelbsch
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells and their axons that form the optic nerve.
Externí odkaz:
https://doaj.org/article/6a1a22669217408c975b8ab2ef492b6c
Autor:
Thorsten Schmidt, Anastasia Gazou, Angelika Rieß, Olaf Rieß, Kathrin Grundmann-Hauser, Ruth Falb, Malou Schadeck, Tilman Heinrich, Mahkameh Abeditashi, Jana Schmidt, Ulrike A. Mau-Holzmann, Kai P. Schnabel
Publikováno v:
BMC Medical Education, Vol 20, Iss 1, Pp 1-8 (2020)
Abstract Background Audience response systems allow to activate the audience and to receive a direct feedback of participants during lectures. Modern systems do not require any proprietary hardware anymore. Students can directly respond on their smar
Externí odkaz:
https://doaj.org/article/669baddfa2254e00b66c82e804d54c94
Autor:
Ilnaz Sepahi, Ulrike Faust, Marc Sturm, Kristin Bosse, Martin Kehrer, Tilman Heinrich, Kathrin Grundman-Hauser, Peter Bauer, Stephan Ossowski, Hana Susak, Raymonda Varon, Evelin Schröck, Dieter Niederacher, Bernd Auber, Christian Sutter, Norbert Arnold, Eric Hahnen, Bernd Dworniczak, Shan Wang-Gorke, Andrea Gehrig, Bernhard H. F. Weber, Christoph Engel, Johannes R. Lemke, Andreas Hartkopf, Huu Phuc Nguyen, Olaf Riess, Christopher Schroeder
Publikováno v:
BMC Cancer, Vol 19, Iss 1, Pp 1-12 (2019)
Abstract Background Inherited pathogenic variants in BRCA1 and BRCA2 are the most common causes of hereditary breast and ovarian cancer (HBOC). The risk of developing breast cancer by age 80 in women carrying a BRCA1 pathogenic variant is 72%. The li
Externí odkaz:
https://doaj.org/article/3ef5711bdd6a4d41a69af27397cb98dc
Autor:
Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P.M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schäferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5, p 2374 (2021)
In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic testing at
Externí odkaz:
https://doaj.org/article/ebbf8bcb097540709f9d46f347dfe784
Autor:
Andreas Dufke, Markus Hoopmann, Stephan Waldmüller, Natalia Carmen Prodan, Stefanie Beck‐Wödl, Ute Grasshoff, Tilman Heinrich, Angelika Riess, Martin Kehrer, Ruth J. Falb, Alexandra Liebmann, Cristiana Roggia, Miriam Stampfer, Malou Schadeck, Amelie J. Müller, Mona Grimmel, Petra Stöbe, Darja Gauck, Rebecca Buchert‐Lo, Sarah Baumann, Karin Schäferhoff, Miriam Bertrand, Benita Menden, Marc Sturm, Leon Schütz, Olaf Riess, Stephan Ossowski, Tobias B. Haack, Karl Oliver Kagan
Publikováno v:
Prenatal Diagnosis. 42:901-910
To examine the diagnostic yield of trio exome sequencing in fetuses with multiple structural defects with no pathogenic findings in cytogenetic and microarray analyses.We recruited 51 fetuses with two or more defects, non-immune fetal hydrops or feta
Autor:
Alma Kuechler, Wolfram Klein, Ruth Falb, Tilman Heinrich, Susanne Haen, Amelie J. Müller, Natalia Prodan, Eva M. C. Schwaibold, Andreas Dufke, Marc Sturm, Nina Hirt, Mona Grimmel, Markus Hoopmann, Ulrich Gembruch, Petra Stöbe, Dirk Emmerich, Silke Hartmann, Stephan Waldmüller, Ute Grasshoff, Glen Kristiansen, Olga Kelemen, Armin Neumann, Darja Gauck, Dieter Gläser, Karl Oliver Kagan, Tobias B. Haack, Rebecca Buchert, Stefanie Beck-Wödl, Nicola Dikow, Christoph Schmidt, Ismail Tekesin, Sabine Hentze, Denise Horn, Olaf Riess, Martin Kehrer, Joohyun Park, Stephan Ossowski, Felix Distelmaier, Stephanie Spranger, Reiner Siebert, Luisa Averdunk
Publikováno v:
Journal of Medical Genetics. 60:48-56
BackgroundFetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals. We aimed to further define the se
Autor:
Maria B. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P. Bhatia, Tatjana Bierhals, Christian M. Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco‐Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B. Haack, Trine B. Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J. Müller, Anna J. Oostra, Beth A. Pletcher, David Ros‐Pardo, Shanika Samarasekera, Marco Tartaglia, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha S. Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gomez‐Puertas, Rikke S. Møller, Zeynep Tümer
Publikováno v:
Clinical genetics
CLINICAL GENETICS
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas, P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165
CLINICAL GENETICS
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas, P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165
Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this stud
Autor:
Ruth J, Falb, Amelie J, Müller, Wolfram, Klein, Mona, Grimmel, Ute, Grasshoff, Stephanie, Spranger, Petra, Stöbe, Darja, Gauck, Alma, Kuechler, Nicola, Dikow, Eva M C, Schwaibold, Christoph, Schmidt, Luisa, Averdunk, Rebecca, Buchert, Tilman, Heinrich, Natalia, Prodan, Joohyun, Park, Martin, Kehrer, Marc, Sturm, Olga, Kelemen, Silke, Hartmann, Denise, Horn, Dirk, Emmerich, Nina, Hirt, Armin, Neumann, Glen, Kristiansen, Ulrich, Gembruch, Susanne, Haen, Reiner, Siebert, Sabine, Hentze, Markus, Hoopmann, Stephan, Ossowski, Stephan, Waldmüller, Stefanie, Beck-Wödl, Dieter, Gläser, Ismail, Tekesin, Felix, Distelmaier, Olaf, Riess, Karl-Oliver, Kagan, Andreas, Dufke, Tobias B, Haack
Publikováno v:
Journal of medical genetics.
Fetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals. We aimed to further define the set of genes
Autor:
Gerhard Binder, Roland Schweizer, Julian Ziegler, Tilman Heinrich, Wisam Habhab, Tobias B. Haack, Thomas Eggermann
Publikováno v:
Clinical Epigenetics
Clinical epigenetics 12(1), 152 (2020). doi:10.1186/s13148-020-00945-y
Clinical epigenetics 12(1), 152 (2020). doi:10.1186/s13148-020-00945-y
Clinical epigenetics 12(1), 152 (2020). doi:10.1186/s13148-020-00945-y
Published by BioMed Central, [S.I.]
Published by BioMed Central, [S.I.]
Autor:
Gerd Mikus, Johanna Weiss, Julia Bödigheimer, Jürgen Burhenne, Tilman Heinrich, Walter E. Haefeli, Anne‐Kathrin Matthee, Claudia Röder
Publikováno v:
The Journal of Clinical Pharmacology. 57:899-905
This study aimed to assess whether a single oral dose of the nonnucleoside reverse transcriptase inhibitor efavirenz can alter CYP3A in vivo. In 12 healthy participants individual CYP3A activity was quantified using a semisimultaneous methodology (mi