Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Ruth Raff"'
Autor:
Nina Ishorst, Leonie Henschel, Frederic Thieme, Dmitriy Drichel, Sugirthan Sivalingam, Sarah L. Mehrem, Ariane C. Fechtner, Julia Fazaal, Julia Welzenbach, André Heimbach, Carlo Maj, Oleg Borisov, Jonas Hausen, Ruth Raff, Alexander Hoischen, Michael Dixon, Alvaro Rada‐Iglesias, Michaela Bartusel, Augusto Rojas‐Martinez, Khalid Aldhorae, Bert Braumann, Teresa Kruse, Christian Kirschneck, Gerrit Spanier, Heiko Reutter, Stefanie Nowak, Lina Gölz, Michael Knapp, Andreas Buness, Peter Krawitz, Markus M. Nöthen, Michael Nothnagel, Tim Becker, Kerstin U. Ludwig, Elisabeth Mangold
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 3, Pp n/a-n/a (2023)
Abstract Background Nonsyndromic cleft lip with/without cleft palate (nsCL/P) is a congenital malformation of multifactorial etiology. Research has identified >40 genome‐wide significant risk loci, which explain less than 40% of nsCL/P heritability
Externí odkaz:
https://doaj.org/article/205be1f83d914d678ac7257527a61a58
Autor:
Anna Maaser, Andreas J Forstner, Jana Strohmaier, Julian Hecker, Kerstin U Ludwig, Sugirthan Sivalingam, Fabian Streit, Franziska Degenhardt, Stephanie H Witt, Céline S Reinbold, Anna C Koller, Ruth Raff, Stefanie Heilmann-Heimbach, Sascha B Fischer, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Stefan Herms, Per Hoffmann, Holger Thiele, Peter Nürnberg, Heide Löhlein Fier, Guillermo Orozco-Díaz, Deinys Carmenate-Naranjo, Niurka Proenza-Barzaga, Georg W J Auburger, Till F M Andlauer, Sven Cichon, Beatriz Marcheco-Teruel, Ole Mors, Marcella Rietschel, Markus M Nöthen
Publikováno v:
PLoS ONE, Vol 13, Iss 10, p e0205895 (2018)
Bipolar disorder (BD) is a major psychiatric illness affecting around 1% of the global population. BD is characterized by recurrent manic and depressive episodes, and has an estimated heritability of around 70%. Research has identified the first BD s
Externí odkaz:
https://doaj.org/article/1678c4857613409997aaacae174fa23f
Autor:
Heiko Reutter, Florian Kipfmueller, Ebru Aileen Alsat, Thomas Schaible, Annegret Geipel, Ulrich Gembruch, Hartmut Engels, Andreas Müller, Elisabeth Mangold, Soyhan Bagci, Ruth Raff
Publikováno v:
Clinical Case Reports
Key Clinical Message Our findings extend the phenotypic spectrum of Cat eye syndrome, a disorder with wide clinical variability. The potentially life‐threatening complications of congenital diaphragmatic hernia should be considered in genetic couns
Autor:
Céline S. Reinbold, Till F. M. Andlauer, Sugirthan Sivalingam, Stephanie H. Witt, Andreas J. Forstner, Stefanie Heilmann-Heimbach, Sven Cichon, Fabian Streit, Sascha B. Fischer, Anna C. Koller, Julian Hecker, Per Hoffmann, Franziska Degenhardt, Stefan Herms, Niurka Proenza-Barzaga, Marcella Rietschel, Beatriz Marcheco-Teruel, Georg Auburger, Jana Strohmaier, Ruth Raff, Guillermo Orozco-Diaz, Markus M. Nöthen, Holger Thiele, Anna Maaser, Ole Mors, Kerstin U. Ludwig, Heide Löhlein Fier, Deinys Carmenate-Naranjo, Peter Nürnberg
Publikováno v:
Maaser, A, Forstner, A J, Strohmaier, J, Hecker, J, Ludwig, K U, Sivalingam, S, Streit, F, Degenhardt, F, Witt, S H, Reinbold, C S, Koller, A C, Raff, R, Heilmann-Heimbach, S, Fischer, S B, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Herms, S, Hoffmann, P, Thiele, H, Nürnberg, P, Fier, H L, Orozco-Díaz, G, Carmenate-Naranjo, D, Proenza-Barzaga, N, Auburger, G W J, Andlauer, T F M, Cichon, S, Marcheco-Teruel, B, Mors, O, Rietschel, M & Nöthen, M M 2018, ' Exome sequencing in large, multiplex bipolar disorder families from Cuba ', PLOS ONE, vol. 13, no. 10, e0205895 . https://doi.org/10.1371/journal.pone.0205895
Bipolar Disorder Working Group of the Psychiatric Genomics Consortium 2018, ' Exome sequencing in large, multiplex bipolar disorder families from Cuba ', PLOS ONE, vol. 13, no. 10, pp. e0205895 . https://doi.org/10.1371/journal.pone.0205895
PLOS ONE 13(10), e0205895-(2018). doi:10.1371/journal.pone.0205895
PLoS ONE, Vol 13, Iss 10, p e0205895 (2018)
PLoS ONE
PLoS One
Bipolar Disorder Working Group of the Psychiatric Genomics Consortium 2018, ' Exome sequencing in large, multiplex bipolar disorder families from Cuba ', PLOS ONE, vol. 13, no. 10, pp. e0205895 . https://doi.org/10.1371/journal.pone.0205895
PLOS ONE 13(10), e0205895-(2018). doi:10.1371/journal.pone.0205895
PLoS ONE, Vol 13, Iss 10, p e0205895 (2018)
PLoS ONE
PLoS One
Bipolar disorder (BD) is a major psychiatric illness affecting around 1% of the global population. BD is characterized by recurrent manic and depressive episodes, and has an estimated heritability of around 70%. Research has identified the first BD s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53d932e4972f8cedd03d82462c474261
https://pure.au.dk/portal/da/publications/exome-sequencing-in-large-multiplex-bipolar-disorder-families-from-cuba(25fc978e-3e98-4532-a44d-5e07c4a31772).html
https://pure.au.dk/portal/da/publications/exome-sequencing-in-large-multiplex-bipolar-disorder-families-from-cuba(25fc978e-3e98-4532-a44d-5e07c4a31772).html
Autor:
Khalid Aldhorae, Franz-Josef Kramer, Hannah Schuenke, Gül Schmidt, Elisabeth Mangold, Johanna Klamt, Janis Stavusis, Heiko Reutter, Rudolf Reiter, Pinar Gültepe, Guntram Borck, Markus M. Nöthen, Andrea Hofmann, Miho Ishida, Bert Braumann, Ruth Raff, Philip Stanier, Nina Ishorst, Baiba Lace, Anne C. Böhmer, Michael Knapp, Alexander Hemprich, Sibylle Brosch, Lina Gölz, Gudrun E. Moore, Ann-Kathrin Hoebel, Peter Tessmann, Rimante Seselgyte, Stefanie Nowak, Kerstin U. Ludwig, Andreas Jäger, Rudolf H. Reich, Thomas Kreusch
Publikováno v:
American journal of human genetics. 98(4)
Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individu
Autor:
Herdit M. Schüler, Ulrike Gamerdinger, E. Meyer, Gesa Schwanitz, Thomas Eggermann, Kristin Bosse, Ruth Raff, Christiane Heidrich-Kaul, Eckhard Korsch, Ingeborg Heil
Publikováno v:
American Journal of Medical Genetics Part A. :305-308
Tetrasomy of proximal 14q is an extremely rare condition and has never been reported to be associated with survival. We here report on the first case of mosaic tetrasomy of 14pter-q13 due to a de-novo supernumerary pseudoisodicentric chromosome in a
Autor:
Gesa Schwanitz, Ruth Schellberg, Detlef Trost, Rolf Kallenberg, Walter Wiebe, Lutz Grävinghoff, Ruth Raff
Publikováno v:
Cardiology in the Young. 14:622-629
We investigated a group of 376 children, seen over a period of 7 years with different types of congenital cardiovascular defects, to assess the presence of chromosomal aberrations. The diagnostic approach, achieved in 3 consecutive steps, revealed co
Publikováno v:
International Journal of Human Genetics. 2:213-221
Gonosomal mosaicism with a Y-chromo- some present in at least one cell system was investi- gated in 29 patients. In 15 cases the Y-chromosome was structurally normal, in 14 cases different structural aberrations were analysed. 17 patients were phenot
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:
Gesa Schwanitz, Ruth Raff
Publikováno v:
International Journal of Human Genetics. 1:65-75
Fluorescence in situ hybridization (FISH) is a molecular-cytogenetic investigation method and thus cov- ers a gap between classical cytogenetic and molecular-ge- netic techniques. By the broad spectrum of application pos- sibilities it leads to impor