Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Beatrice Oneda"'
Autor:
Paranchai Boonsawat, Anselm H. C. Horn, Katharina Steindl, Alessandra Baumer, Pascal Joset, Dennis Kraemer, Angela Bahr, Ivan Ivanovski, Elena M. Cabello, Michael Papik, Markus Zweier, Beatrice Oneda, Pietro Sirleto, Tilo Burkhardt, Heinrich Sticht, Anita Rauch
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract The magnitude of clinical utility of preconception expanded carrier screening (ECS) concerning its potential to reduce the risk of affected offspring is unknown. Since neurodevelopmental disorders (NDDs) in their offspring is a major concern
Externí odkaz:
https://doaj.org/article/320147a5a90d41e0b319014749a3c315
Autor:
Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Lucia Abela, Michael Papik, Markus Zweier, Beatrice Oneda, Pascal Joset, Anita Rauch
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 5, Pp n/a-n/a (2023)
Abstract Background As the technology of next generation sequencing rapidly develops and costs are constantly reduced, the clinical availability of whole genome sequencing (WGS) increases. Thereby, it remains unclear what exact advantage WGS offers i
Externí odkaz:
https://doaj.org/article/20cbd16de29d47a0bd33738cb7db2bc9
Autor:
Reza Asadollahi, Christian Britschgi, Pascal Joset, Beatrice Oneda, Detlev Schindler, Urs R. Meier, Anita Rauch
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background A minority of breast cancer (BC) patients suffer from severe reaction to adjuvant radiotherapy (RT). Although deficient DNA double‐strand break repair is considered the main basis for the reactions, pretreatment identification o
Externí odkaz:
https://doaj.org/article/fb0b20ace0eb418a9fa0e224a15b9fb9
Autor:
Edna Grünblatt, Beatrice Oneda, Arif B. Ekici, Juliane Ball, Julia Geissler, Steffen Uebe, Marcel Romanos, Anita Rauch, Susanne Walitza
Publikováno v:
BMC Medical Genomics, Vol 10, Iss 1, Pp 1-11 (2017)
Abstract Background Obsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours. It is a complex genetic condition and, in case of early onset (EO), the patients manif
Externí odkaz:
https://doaj.org/article/d05bfc8c4e814633a472807af216292d
Autor:
Beatrice Oneda, Nadège Lods, Daniel Lottaz, Christoph Becker-Pauly, Walter Stöcker, Jeffrey Pippin, Maya Huguenin, Daniel Ambort, Hans-Peter Marti, Erwin E Sterchi
Publikováno v:
PLoS ONE, Vol 3, Iss 5, p e2278 (2008)
Meprin (EC 3.4.24.18) is an oligomeric metalloendopeptidase found in microvillar membranes of kidney proximal tubular epithelial cells. Here, we present the first report on the expression of meprin beta in rat glomerular epithelial cells and suggest
Externí odkaz:
https://doaj.org/article/59969f292fab4eae96cd33a1b7b2763f
Autor:
Maya Huguenin, Eliane J Müller, Sandra Trachsel-Rösmann, Beatrice Oneda, Daniel Ambort, Erwin E Sterchi, Daniel Lottaz
Publikováno v:
PLoS ONE, Vol 3, Iss 5, p e2153 (2008)
BACKGROUND: Meprin (EC 3.4.24.18), an astacin-like metalloprotease, is expressed in the epithelium of the intestine and kidney tubules and has been related to cancer, but the mechanistic links are unknown. METHODOLOGY/PRINCIPAL FINDINGS: We used MDCK
Externí odkaz:
https://doaj.org/article/bb9c5e25976e4bc2b1e36079a63894a5
Autor:
Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Lucia Abela, Michael Papik, Markus Zweier, Beatrice Oneda, Pascal Joset, Anita Rauch
Publikováno v:
Mol Genet Genomic Med
The cover image is based on the Original Article The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies by Anna Grether et al., https://doi.org/10.1002/mgg3.2148 [Image: see
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f80cb4e5ae248cee8fe5016a92029fb9
https://europepmc.org/articles/PMC10178802/
https://europepmc.org/articles/PMC10178802/
Autor:
Melissa Rieger, Sébastien Moutton, Sarah Verheyen, Katharina Steindl, Bernt Popp, Bruno Leheup, Céline Bonnet, Beatrice Oneda, Anita Rauch, André Reis, Mandy Krumbiegel, Ulrike Hüffmeier
Only few copy number variants at chromosome 19p13.11 have been reported, thus associated clinical information is scarce. Proximal to these copy number losses, we now identified deletions in five unrelated individuals with neurodevelopmental disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2f1a6a9b4b60e00cbad1cfb50085e39
Autor:
Christian Britschgi, Beatrice Oneda, Reza Asadollahi, Urs R. Meier, Pascal Joset, Detlev Schindler, Anita Rauch
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Molecular Genetics and Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Molecular Genetics and Genomic Medicine
Background A minority of breast cancer (BC) patients suffer from severe reaction to adjuvant radiotherapy (RT). Although deficient DNA double‐strand break repair is considered the main basis for the reactions, pretreatment identification of high‐
Autor:
Rosa Baldinger, Christian Breymann, Beatrice Oneda, Anita Rauch, Tilo Burkhardt, Pietro Sirleto, Katharina Steindl, Nicole Ochsenbein-Kölble, Josef Wisser, Silvia Azzarello-Burri, Roland Zimmermann, Christian Britschgi, Dunja Niedrist, Markus Zweier, Pascal Joset, Malgorzata Taralczak
Publikováno v:
European journal of obstetrics, gynecology, and reproductive biology. 252
Objective Non-invasive prenatal testing by targeted or genome-wide copy number profiling (cnNIPT) has the potential to outperform standard NIPT targeting the common trisomies 13, 18, and 21, only. Nevertheless, prospective results and outcome data on