Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Darja, Gauck"'
Autor:
Luisa Averdunk, Sandra Donkervoort, Denise Horn, Stephan Waldmüller, Safoora Syeda, Sarah B. Neuhaus, Katherine R. Chao, Anne van Riesen, Darja Gauck, Tobias Haack, Anna S. Japp, Unaa Lee, Carsten G. Bönnemann, Ertan Mayatepek, Felix Distelmaier
Publikováno v:
Neuropediatrics. 53:309-320
Introduction Arthrogryposis is characterized by the presence of multiple contractures at birth and can be caused by pathogenic variants in TTN (Titin). Exons and variants that are not expressed in one of the three major isoforms of titin are referred
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acbc6ed71ea5308535019e1cea2287ce
https://doi.org/10.1055/a-1859-0800
https://doi.org/10.1055/a-1859-0800
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cba42ef6816f55e347fca2edf70238d
https://doi.org/10.1002/pd.6170
https://doi.org/10.1002/pd.6170
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fc67063fced297732b175a2a131ead1
https://doi.org/10.1136/jmedgenet-2021-108064
https://doi.org/10.1136/jmedgenet-2021-108064
Autor:
Gajja S. Salomons, Urania Kotzaeridou, Travis Moore, Chiara Aiello, Frances Elmslie, Isabelle Thiffault, Francesco Nicita, Saskia Biskup, Paola Goffrini, Karen Stals, Ralf A. Husain, Sonia Figuccia, Amy Pizzino, Rosalba Carrozzo, Cas Simons, Enrico Bertini, Alessandra Torraco, Guy Helman, Ulrich Brandl, Geneviève Bernard, Desirée E.C. Smith, Ryan J. Taft, Rajat Gupta, Tobias B. Haack, Alexa Derksen, Adeline Vanderver, Theresa A. Grebe, Michela Catteruccia, Raphael Schiffmann, Marisa I. Mendes, Marjo S. van der Knaap, Darja Gauck, Andreas Hahn, Lama Darbelli, Omar Sherbini, Ines Brösse, Kinga Hadzsiev
Publikováno v:
Genetics in medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins
Helman, G, Mendes, M I, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, P, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, D E C, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, T A, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, R J, Schiffmann, R, Brandl, U, Haack, T B, Salomons, G S, Simons, C, Bernard, G, van der Knaap, M S, Vanderver, A & Husain, R A 2021, ' Expanded phenotype of AARS1-related white matter disease ', Genetics in Medicine, vol. 23, no. 12, pp. 2352-2359 . https://doi.org/10.1038/s41436-021-01286-8
Genetics in Medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins
Helman, G, Mendes, M I, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, P, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, D E C, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, T A, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, R J, Schiffmann, R, Brandl, U, Haack, T B, Salomons, G S, Simons, C, Bernard, G, van der Knaap, M S, Vanderver, A & Husain, R A 2021, ' Expanded phenotype of AARS1-related white matter disease ', Genetics in Medicine, vol. 23, no. 12, pp. 2352-2359 . https://doi.org/10.1038/s41436-021-01286-8
Genetics in Medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins
Purpose: Recent reports of individuals with cytoplasmic transfer RNA (tRNA) synthetase-related disorders have identified cases with phenotypic variability from the index presentations. We sought to assess phenotypic variability in individuals with AA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca95affd452f17a6c485d3de16d5b85b
https://pure.amc.nl/en/publications/expanded-phenotype-of-aars1related-white-matter-disease(f8099511-a150-409f-89b2-4af617ac64f8).html
https://pure.amc.nl/en/publications/expanded-phenotype-of-aars1related-white-matter-disease(f8099511-a150-409f-89b2-4af617ac64f8).html
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::19aaf10de080ef8a827b98fa0af8f4a7
https://pubmed.ncbi.nlm.nih.gov/34740919
https://pubmed.ncbi.nlm.nih.gov/34740919