Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Rixa Woitschach"'
Autor:
Laura Keil, Filip Berisha, Stella Ritter, Johanna Skibowski, Hariharan Subramanian, Viacheslav O. Nikolaev, Christian Kubisch, Rixa Woitschach, Larissa Fabritz, Raphael Twerenbold, Stefan Blankenberg, Sören Weidemann, Tanja Zeller, Paulus Kirchhof, Daniel Reichart, Christina Magnussen
Publikováno v:
ESC Heart Failure, Vol 11, Iss 1, Pp 541-549 (2024)
Abstract Aims Cardiomyopathies (CMPs) are a heterogeneous group of diseases that are defined by structural and functional abnormalities of the cardiac muscle. Dilated cardiomyopathy (DCM), the most common CMP, is defined by left ventricular dilation
Externí odkaz:
https://doaj.org/article/dfb52136a4494daba8ed13b44b407a32
Autor:
Laura Keil, Filip Berisha, Dorit Knappe, Christian Kubisch, Moneef Shoukier, Paulus Kirchhof, Larissa Fabritz, Yorck Hellenbroich, Rixa Woitschach, Christina Magnussen
Publikováno v:
Genes, Vol 13, Iss 2, p 169 (2022)
We report a family with heterozygous deletion of exons 3–6 of the LMNA gene. The main presentation of affected family members was characterized by ventricular and supraventricular arrhythmias, atrioventricular (AV) block and sudden cardiac death (S
Externí odkaz:
https://doaj.org/article/1796f77d37274a79a51b3d1b8d366cda
Autor:
Erica H. Gerkes, Ingo Kurth, Beyhan Tüysüz, Isabel Filges, Martin A. Mensah, Stefan Mundlos, Susanne Markus, Luitgard Graul-Neumann, Wiebke Hülsemann, Daniel Svoboda, Manuel Holtgrewe, Nursel Elcioglu, Marie Coutelier, Almuth Caliebe, Aleksander Jamsheer, Jonas Elsner, Christopher Teller, Stefania Bigoni, Rixa Woitschach, Malte Spielmann, Inga Vater, Jakob Hertzberg, Miriam S. Reuter, Peter Krawitz, Katta M. Girisha, Deepthi De Silva, Denise Horn, André Mégarbané, André Reis, Andreas Busche, Meredith Wilson, Seval Türkmen
Publikováno v:
Human Genetics
HUMAN GENETICS, 140(8), 1229-1239. SPRINGER
HUMAN GENETICS, 140(8), 1229-1239. SPRINGER
The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has the potential to identify all genetic variants. Here we aim to determine th
Autor:
Ann Seman, Rixa Woitschach, Duygu Selcen, Divya Nair, Lauren Gunderson, Mahim Jain, Sha Tang, Giuseppe Zampino, Julien L. Marcadier, Marielle Alders, Jason Pinner, Melanie Napier, Linda Hasadsri, Marina Macchiaiolo, Alyssa Blesson, Pavel N. Pichurin, Joseph T. Alaimo, Arjan Bouman, Philippe M. Campeau, Catherine Karimov, Chitra Prasad, Anne Dieux-Coeslier, Nicole L. Bertsch, Bernd Wollnik, Janine Altmüller, Zöe Powis, Holly Dubbs, Tahsin Stefan Barakat, Gregory M. Cooper, Kristen J. Rasmussen, Perrine Brunelle, Patrick R. Blackburn, Erica D. Smith, Jeff M. Milunsky, Katja Kloth, E. Martina Bebin, Lot Snijders Blok, Knut Brockmann, Karin Weiss, Xilma R. Ortiz-Gonzalez, Danna Gal, Dong Li, Francesca Clementina Radio, Joan M. Stoler, Elaine H. Zackai, Jiddeke M. van de Kamp, Deepali N. Shinde, Huifang Yan, Thomas Smol, Alejandro Ferrer, Dagmar Weise, Baiba Lace, Deborah L. Renaud, Lauren E. Bartik, Beth Keena, Michelle L. Thompson, Carol J Saunders, Theodore G. Drivas, Elizabeth J. Bhoj, Eric T. Rush, Marco Tartaglia, Eric W. Klee, Margit Burmeister, Jingmin Wang, Jonas Denecke
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 28(10), 1422-1431. Nature Publishing Group
European journal of human genetics, 28(10), 1422-1431. Nature Publishing Group
Paediatrics Publications
Drivas, T G, Li, D, Nair, D, Alaimo, J T, Alders, M, Altmüller, J, Barakat, T S, Bebin, E M, Bertsch, N L, Blackburn, P R, Blesson, A, Bouman, A M, Brockmann, K, Brunelle, P, Burmeister, M, Cooper, G M, Denecke, J, Dieux-Coëslier, A, Dubbs, H, Ferrer, A, Gal, D, Bartik, L E, Gunderson, L B, Hasadsri, L, Jain, M, Karimov, C, Keena, B, Klee, E W, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, J L, Milunsky, J M, Napier, M P, Ortiz-Gonzalez, X R, Pichurin, P N, Pinner, J, Powis, Z, Prasad, C, Radio, F C, Rasmussen, K J, Renaud, D L, Rush, E T, Saunders, C, Selcen, D, Seman, A R, Shinde, D N, Smith, E D, Smol, T, Snijders Blok, L, Stoler, J M, Tang, S, Tartaglia, M, Thompson, M L, van de Kamp, J M, Wang, J, Weise, D, Weiss, K, Woitschach, R, Wollnik, B, Yan, H, Zackai, E H, Zampino, G, Campeau, P & Bhoj, E 2020, ' A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome ', European Journal of Human Genetics, vol. 28, no. 10, pp. 1422-1431 . https://doi.org/10.1038/s41431-020-0654-4
European Journal of Human Genetics, 28(10), 1422-1431. Nature Publishing Group
European journal of human genetics, 28(10), 1422-1431. Nature Publishing Group
Paediatrics Publications
Drivas, T G, Li, D, Nair, D, Alaimo, J T, Alders, M, Altmüller, J, Barakat, T S, Bebin, E M, Bertsch, N L, Blackburn, P R, Blesson, A, Bouman, A M, Brockmann, K, Brunelle, P, Burmeister, M, Cooper, G M, Denecke, J, Dieux-Coëslier, A, Dubbs, H, Ferrer, A, Gal, D, Bartik, L E, Gunderson, L B, Hasadsri, L, Jain, M, Karimov, C, Keena, B, Klee, E W, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, J L, Milunsky, J M, Napier, M P, Ortiz-Gonzalez, X R, Pichurin, P N, Pinner, J, Powis, Z, Prasad, C, Radio, F C, Rasmussen, K J, Renaud, D L, Rush, E T, Saunders, C, Selcen, D, Seman, A R, Shinde, D N, Smith, E D, Smol, T, Snijders Blok, L, Stoler, J M, Tang, S, Tartaglia, M, Thompson, M L, van de Kamp, J M, Wang, J, Weise, D, Weiss, K, Woitschach, R, Wollnik, B, Yan, H, Zackai, E H, Zampino, G, Campeau, P & Bhoj, E 2020, ' A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome ', European Journal of Human Genetics, vol. 28, no. 10, pp. 1422-1431 . https://doi.org/10.1038/s41431-020-0654-4
There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the
Autor:
Rixa Woitschach, Helke Schüler, Sara Sheikhzadeh, Jakob Olfe, Melanie J Hartmann, Alexandra Wey-Fabrizius, Christine Petersen, Alexander E Volk, Malik Alawi, Dagmar Wieczorek, Meike Rybczynski, Friederike Sophia Seggewies, Kerstin Kutsche, Isabella Rau, Diana Mitter, Georg Rosenberger, Veronika Stark, Margarete Koch-Hogrebe, Sina Renner, Yskert von Kodolitsch, Verena Kolbe, Christian Kubisch, Rami Abou Jamra, Maja Hempel, Thomas S. Mir, Guntram Borck, Janine Altmüller, Mathias Hillebrand, Katja Kloth, Adrian Mahlmann, Elke Roser
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 21(8)
Heritable factors play an important etiologic role in connective tissue disorders (CTD) with vascular involvement, and a genetic diagnosis is getting increasingly important for gene-tailored, personalized patient management. We analyzed 32 disease-as