Zobrazeno 1 - 10
of 229
pro vyhledávání: '"Christian P, Schaaf"'
Autor:
Louise Gallagher, Michael Absoud, Miguel Castelo-Branco, Tony Charman, Maja Hempel, Richard Delorme, Guiomar Oliveira, Roberta Battini, Sven Bölte, Claire S Leblond, Thomas Bourgeron, Alexandra Lautarescu, Mercedes Serrano, Federico Vigevano, Christian P Schaaf, Bethany Oakley, Julian Tillmann, Pierre Violland, Declan G M Murphy, Sarah Douglas, Paolo Bonanni, Grainne McAlonan, Roberta Milone, Josefina Castro-Fornieles, Madeleine Bloomfield, Síofra Heraty, Roderik Plas, Anjuli Ghosh, Katrien Van den Bosch, Eliza Eaton, Ana Blázquez Hinojosa, Nadia Bolshakova, Jacqueline Borg, Sara Calderoni, Rosa Calvo Escalona, Pilar Caro, Freddy Cliquet, Alberto Danieli, Maurizio Elia, Nuno Madeira, Ciara J Molloy, Susana Mouga, Virginia Montiel, Ana Pina Rodrigues, Kristiina Tammimies, Charlotte Tye, Beatrice Mazzone, Cara O’Neill, Julie Pender, Verena Romero, Christopher Chatham
Publikováno v:
BMJ Open, Vol 14, Iss 6 (2024)
Introduction Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed
Externí odkaz:
https://doaj.org/article/815fdc95324e48c4ab0f1f29dd80968c
Autor:
Andreas Mock, Maria-Veronica Teleanu, Simon Kreutzfeldt, Christoph E. Heilig, Jennifer Hüllein, Lino Möhrmann, Arne Jahn, Dorothea Hanf, Irina A. Kerle, Hans Martin Singh, Barbara Hutter, Sebastian Uhrig, Martina Fröhlich, Olaf Neumann, Andreas Hartig, Sascha Brückmann, Steffen Hirsch, Kerstin Grund, Nicola Dikow, Daniel B. Lipka, Marcus Renner, Irfan Ahmed Bhatti, Leonidas Apostolidis, Richard F. Schlenk, Christian P. Schaaf, Albrecht Stenzinger, Evelin Schröck, Daniel Hübschmann, Christoph Heining, Peter Horak, Hanno Glimm, Stefan Fröhling
Publikováno v:
npj Precision Oncology, Vol 7, Iss 1, Pp 1-15 (2023)
Abstract Analysis of selected cancer genes has become an important tool in precision oncology but cannot fully capture the molecular features and, most importantly, vulnerabilities of individual tumors. Observational and interventional studies have s
Externí odkaz:
https://doaj.org/article/47ffdc7c0d55467aa0a4083d56bfaa6d
Autor:
Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A. Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G. Okun, Christian P. Schaaf, Eva C. Winkler, Stefan Kölker
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 62 (2024)
Driven by technological innovations, newborn screening (NBS) panels have been expanded and the development of genomic NBS pilot programs is rapidly progressing. Decisions on disease selection for NBS are still based on the Wilson and Jungner (WJ) cri
Externí odkaz:
https://doaj.org/article/2052af20549a4a61975bc6f6d9e871cc
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 21, Iss 1, Pp 1-9 (2023)
Abstract A founder variant is a genetic alteration, that is inherited from a common ancestor together with a surrounding chromosomal segment, and is observed at a high frequency in a defined population. This founder effect occurs as a consequence of
Externí odkaz:
https://doaj.org/article/2e8beb7a97cb49188a540fbbe49c3ea4
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Schaaf‐Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternally expressed MAGEL2 gene in the Prader‐Willi syndrome‐region on chromosome 15q. In addition to hypotonia and intellectu
Externí odkaz:
https://doaj.org/article/17e778444bf34e84b0ef5b5d714fb4df
Autor:
Mai Iwasaki, Arthur Lefevre, Ferdinand Althammer, Etienne Clauss Creusot, Olga Łąpieś, Hugues Petitjean, Louis Hilfiger, Damien Kerspern, Meggane Melchior, Stephanie Küppers, Quirin Krabichler, Ryan Patwell, Alan Kania, Tim Gruber, Matthew K. Kirchner, Moritz Wimmer, Henning Fröhlich, Laura Dötsch, Jonas Schimmer, Sabine C. Herpertz, Beate Ditzen, Christian P. Schaaf, Kai Schönig, Dusan Bartsch, Anna Gugula, Aleksandra Trenk, Anna Blasiak, Javier E. Stern, Pascal Darbon, Valery Grinevich, Alexandre Charlet
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
The hypothalamic neuropeptide oxytocin exerts analgesic effects, but the underlying pathways remain largely elusive. Here, the authors describe an analgesic pathway formed by oxytocin neurons projecting to the periaqueductal grey, where axonally rele
Externí odkaz:
https://doaj.org/article/85fa7e14fa3741ae8af552981e58801d
Autor:
Julian Schröter, Tal Dattner, Jennifer Hüllein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffmann, Stefan Kölker, Dominic Lenz, Thomas Opladen, Bernt Popp, Christian P. Schaaf, Christian Staufner, Steffen Syrbe, Sebastian Uhrig, Daniel Hübschmann, Heiko Brennenstuhl
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 1077-1083 (2023)
The widespread use of high-throughput sequencing techniques is leading to a rapidly increasing number of disease-associated variants of unknown significance and candidate genes. Integration of knowledge concerning their genetic, protein as well as fu
Externí odkaz:
https://doaj.org/article/31fff396829a4de39c3c03926e275ef4
Autor:
Christian W. Schaaf, Matthias C. Braunisch, Christopher Holzmann-Littig, Frederick Pfister, Liya Hannemann, Renate I. Hausinger, Mareike Verbeek, Christoph Schmaderer, Lutz Renders, Uwe Heemann, Claudius Küchle
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
BackgroundWe determined the efficacy of free light chain (FLC) removal by regular dialysis equipment (high-flux filtration) with medium cutoff (MCO) membrane hemodialysis (HD) as an adjuvant treatment to standard chemotherapy for patients with acute
Externí odkaz:
https://doaj.org/article/8930c5cc7ced4f4b812c11570bd7e25c
Autor:
Bo Yuan, Katharina V. Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P. Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R. Lupski, Pengfei Liu
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-24 (2022)
Abstract Background In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetics approach to enhance
Externí odkaz:
https://doaj.org/article/50af113501604ee09eb61b9cf30d4c6b
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract The prosocial neuropeptide oxytocin is being developed as a potential treatment for various neuropsychiatric disorders including autism spectrum disorder (ASD). Early studies using intranasal oxytocin in patients with ASD yielded encouraging
Externí odkaz:
https://doaj.org/article/f14f5bb3cc694d638372f71b28296eae