Search Results - "Steinberger, Daniela"

Pharmacogenomics decision support in the U-PGx project: Results and advice from clinical implementation across seven European countries by Blagec, Kathrin, Swen, Jesse J, Koopmann, Rudolf, Cheung, Ka-Chun, Crommentuijn-van Rhenen, Mandy, Holsappel, Inge, Konta, Lidija, Ott, Simon, Steinberger, Daniela, Xu, Hong, Cecchin, Erika, Dolžan, Vita, Dávila-Fajardo, Cristina Lucía, Patrinos, George P, Sunder-Plassmann, Gere, Turner, Richard M, Pirmohamed, Munir, Guchelaar, Henk-Jan, Samwald, Matthias

“…The clinical implementation of pharmacogenomics (PGx) could be one of the first milestones towards realizing personalized medicine in routine care. However,…”
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German and Italian Users of Web-Accessed Genetic Data: Attitudes on Personal Utility and Personal Sharing Preferences. Results of a Comparative Survey (n=192) by Wöhlke, Sabine, Schaper, Manuel, Oliveri, Serena, Cutica, Ilaria, Spinella, Francesca, Pravettoni, Gabriella, Steinberger, Daniela, Schicktanz, Silke

“…Genetic information is increasingly provided outside of the traditional clinical setting, allowing users to access it directly specialized online platforms…”
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Genetic testing users in Italy and Germany: Health orientation, health‐related habits, and psychological profile by Ongaro, Giulia, Brivio, Eleonora, Cincidda, Clizia, Oliveri, Serena, Spinella, Francesca, Steinberger, Daniela, Cutica, Ilaria, Gorini, Alessandra, Pravettoni, Gabriella

“…Background Rapid advances in genomic knowledge and widespread access to the web contributed to the development of genetic services by private companies or…”
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Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics by Wildhardt, Gabriele, Zirn, Birgit, Graul-Neumann, Luitgard M, Wechtenbruch, Juliane, Suckfüll, Markus, Buske, Annegret, Bohring, Axel, Kubisch, Christian, Vogt, Stefanie, Strobl-Wildemann, Gertrud, Greally, Marie, Bartsch, Oliver, Steinberger, Daniela

“…Objectives Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital…”
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MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13 by Steinmüller, R, Steinberger, D, Müller, U

“…A previously unrecognised X-chromosomal mental retardation syndrome is described. Clinical hallmarks are mental retardation, epileptic seizures, hypogonadism,…”
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Implementing pharmacogenomics decision support across seven European countries: The Ubiquitous Pharmacogenomics (U-PGx) project by Blagec, Kathrin, Koopmann, Rudolf, Crommentuijn-van Rhenen, Mandy, Holsappel, Inge, van der Wouden, Cathelijne H, Konta, Lidija, Xu, Hong, Steinberger, Daniela, Just, Enrico, Swen, Jesse J, Guchelaar, Henk-Jan, Samwald, Matthias

“…Clinical pharmacogenomics (PGx) has the potential to make pharmacotherapy safer and more effective by utilizing genetic patient data for drug dosing and…”
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EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO by Skopkova, Martina, Hennig, Friederike, Shin, Byung‐Sik, Turner, Clesson E., Stanikova, Daniela, Brennerova, Katarina, Stanik, Juraj, Fischer, Ute, Henden, Lyndal, Müller, Ulrich, Steinberger, Daniela, Leshinsky‐Silver, Esther, Bottani, Armand, Kurdiova, Timea, Ukropec, Jozef, Nyitrayova, Olga, Kolnikova, Miriam, Klimes, Iwar, Borck, Guntram, Bahlo, Melanie, Haas, Stefan A., Kim, Joo‐Ran, Lotspeich‐Cole, Leda E., Gasperikova, Daniela, Dever, Thomas E., Kalscheuer, Vera M.

“…ABSTRACT Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded‐protein response has been…”
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Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study by van der Wouden, Cathelijne H., Böhringer, Stefan, Cecchin, Erika, Cheung, Ka-Chun, Dávila-Fajardo, Cristina Lucía, Deneer, Vera H.M., Dolžan, Vita, Ingelman-Sundberg, Magnus, Jönsson, Siv, Karlsson, Mats O., Kriek, Marjolein, Mitropoulou, Christina, Patrinos, George P., Pirmohamed, Munir, Rial-Sebbag, Emmanuelle, Samwald, Matthias, Schwab, Matthias, Steinberger, Daniela, Stingl, Julia, Sunder-Plassmann, Gere, Toffoli, Giuseppe, Turner, Richard M., van Rhenen, Mandy H., van Zwet, Erik, Swen, Jesse J., Guchelaar, Henk-Jan

“…OBJECTIVESPharmacogenetic panel-based testing represents a new model for precision medicine. A sufficiently powered prospective study assessing the…”
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Crouzon syndrome: Previously unrecognized deletion, duplication, and point mutation within FGFR2 gene by Steinberger, Daniela, Mulliken, John B., Müller, Ulrich

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Simulating the Genetics Clinic of the Future — whether undergoing whole-genome sequencing shapes professional attitudes by Brunfeldt, Minna, Teare, Harriet, Schuurbiers, Daan, Steinberger, Daniela, Gerrits, Elianne, Vornanen, Marleena, Knoers, Nine, Kääriäinen, Helena, Vrijenhoek, Terry

“…Whole-genome sequencing (WGS) can provide valuable health insight for research participants or patients. Opportunities to be sequenced are increasing as…”
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EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO: HUMAN MUTATION by Skopkova, Martina, Hennig, Friederike, Shin, Byung-Sik, Turner, Clesson E., Stanikova, Daniela, Brennerova, Katarina, Stanik, Juraj, Fischer, Ute, Henden, Lyndal, Müller, Ulrich, Steinberger, Daniela, Leshinsky-Silver, Esther, Bottani, Armand, Kurdiova, Timea, Ukropec, Jozef, Nyitrayova, Olga, Kolnikova, Miriam, Klimes, Iwar, Borck, Guntram, Bahlo, Melanie, Haas, Stefan A., Kim, Joo-Ran, Lotspeich-Cole, Leda E., Gasperikova, Daniela, Dever, Thomas E., Kalscheuer, Vera M.

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Pharmacogenomics decision support in the U-PGx project: Results and advice from clinical implementation across seven European countries by Kathrin Blagec, Jesse J Swen, Rudolf Koopmann, Ka-Chun Cheung, Mandy Crommentuijn-van Rhenen, Inge Holsappel, Lidija Konta, Simon Ott, Daniela Steinberger, Hong Xu, Erika Cecchin, Vita Dolžan, Cristina Lucía Dávila-Fajardo, George P Patrinos, Gere Sunder-Plassmann, Richard M Turner, Munir Pirmohamed, Henk-Jan Guchelaar, Matthias Samwald, Ubiquitous Pharmacogenomics Consortium

“…BackgroundThe clinical implementation of pharmacogenomics (PGx) could be one of the first milestones towards realizing personalized medicine in routine care…”
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Ein neues Online-Tool zur Optimierung der Arzneitherapie by Steinberger, Daniela

“…ZusammenfassungIndividuelle genetische Faktoren haben einen wichtigen Einfluss auf die Wirkung eines Medikaments. Seit Jahrzehnten sind Erkenntnisse zwischen…”
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Ein neues Online-Tool zur Optimierung der Arzneitherapie: Personalisierte Medizin by Steinberger, Daniela

“…Zusammenfassung Individuelle genetische Faktoren haben einen wichtigen Einfluss auf die Wirkung eines Medikaments. Seit Jahrzehnten sind Erkenntnisse zwischen…”
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Isoniazid‐induced polyneuropathy in a tuberculosis patient – implication for individual risk stratification with genotyping? by Stettner, Mark, Steinberger, Daniela, Hartmann, Christian J., Pabst, Tatjana, Konta, Lidija, Hartung, Hans Peter, Kieseier, Bernd C.

“…Background Development of polyneuropathy (PNP) under treatment for tuberculosis (TB), including isoniazid (INH), is a highly relevant adverse drug effect. The…”
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Genanalysen für das eigene Gesundheitsmanagement by Steinberger, Daniela

“…Zusammenfassung Die Ära der genetischen Medizin hat begonnen. Mit einem neuen Informationsportal ist erstmals für jeden Interessierten der Abgleich des eigenen…”
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Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis) by MULLIKEN, John B, GRIPP, Karen W, STOLLE, Catherine A, STEINBERGER, Daniela, MÜLLER, Ulrich

“…Mutations in genes known to be responsible for most of the recognizable syndromes associated with bilateral coronal synostosis can be detected by molecular…”
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Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia by STEINBERGER, Daniela, TRÜBENBACH, Jutta, ZIRN, Birgit, LEUBE, Barbara, WILDHARDT, Gabriele, MIILLER, Ulrich

“…We applied multiple ligation-dependent probe amplification (MLPA) to patients from three families with characteristic dopa-responsive dystonia (DRD) but no…”
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A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome by Trübenbach, J., Wildhardt, G., Niebel, J., Hawle, H., Steinberger, Daniela

“…Hereditary periodic fever syndromes (HPFSs) are a subset of human autoinflammatory diseases characterized by periodic episodes of fever and signs of…”
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Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia by STEINBERGER, Daniela, BLAU, Nenad, GORIUONOV, Dimitri, BITSCH, Juliane, ZUKER, Michael, HUMMEL, Sibylla, MÜLLER, Ulrich

“…The search for mutations in genes coding for components of the biopterin pathway other than GTPCH1 revealed a mutation in the gene coding for sepiapterin…”
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