Search Results - "Marie, Sabine"

Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non‐severe haemophilia A by Dericquebourg, Amy, Fretigny, Mathilde, Leuci, Alexandre, Zawadzki, Christophe, Huguenin, Yoann, Castet, Sabine‐Marie, Dargaud, Yesim, Vinciguerra, Christine, Jourdy, Yohann

“…Introduction Conventional genetic investigation fails to identify the F8 causal variant in 2.5%‐10% of haemophilia A (HA) patients with non‐severe phenotypes…”
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Reinvestigation of unidentified causative variants in FXI‐deficient patients: Focus on gene segment deletions by De Mazancourt, Philippe, Harroche, Annie, Pouymayou, Katia, Sigaud, Marianne, Falaise, Céline, Stieltjes, Natalie, Castet, Sabine‐Marie, Tardy, Brigitte, Zawadzki, Christophe, Goudemand, Jenny, Dargaud, Yesim

“…Introduction Data on failure to identify the molecular mechanism underlying FXI deficiency by Sanger analysis and the contribution of gene segment deletions…”
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Evaluation of the potential utility of the total thrombus‐formation analysis system in comparison to the platelet function analyser in subjects with primary haemostatic defects by Charpy, Juliette, Chaghouri, Pierre‐Elian, Benattar, Norbert, Castet, Sabine‐Marie, Huguenin, Yoann, James, Chloé, Fiore, Mathieu

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The use of extracellular DNA as a proxy for specific microbial activity by Nagler, Magdalena, Podmirseg, Sabine Marie, Griffith, Gareth Wyn, Insam, Heribert, Ascher-Jenull, Judith

“…The ubiquity and relevance of extracellular DNA (exDNA) are well-known and increasingly gaining importance in many fields of application such as medicine and…”
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Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing by Chatron, Nicolas, Schluth‐Bolard, Caroline, Frétigny, Mathilde, Labalme, Audrey, Vilchez, Gaëlle, Castet, Sabine‐Marie, Négrier, Claude, Sanlaville, Damien, Vinciguerra, Christine, Jourdy, Yohann

“…Essentials No F8 genetic abnormality is detected in about 2% of severe hemophilia A patients. Detection of F8 structural variants remains a challenge. We…”
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Gastrointestinal bleeding from angiodysplasia in von Willebrand disease: Improved diagnosis and outcome prediction using videocapsule on top of conventional endoscopy by Rauch, Antoine, Paris, Camille, Repesse, Yohann, Branche, Julien, D’Oiron, Roseline, Harroche, Annie, Ternisien, Catherine, Castet, Sabine‐Marie, Lebreton, Aurélien, Pan‐Petesch, Brigitte, Volot, Fabienne, Claeyssens, Segolene, Chamouni, Pierre, Gay, Valérie, Berger, Claire, Desprez, Dominique, Falaise, Céline, Biron Andreani, Christine, Marichez, Catherine, Pradines, Benedicte, Zawadzki, Christophe, Itzhar Baikian, Nathalie, Borel‐Derlon, Annie, Goudemand, Jenny, Gerard, Romain, Susen, Sophie

“…Background Despite a high prevalence of angiodysplasia, no specific guidelines are available for the modalities of endoscopic exploration of gastrointestinal…”
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Global Seroprevalence of Pre-existing Immunity Against AAV5 and Other AAV Serotypes in People with Hemophilia A by Klamroth, Robert, Hayes, Gregory, Andreeva, Tatiana, Gregg, Keith, Suzuki, Takashi, Mitha, Ismail Haroon, Hardesty, Brandon, Shima, Midori, Pollock, Toni, Slev, Patricia, Oldenburg, Johannes, Ozelo, Margareth C, Stieltjes, Natalie, Castet, Sabine-Marie, Mahlangu, Johnny, Peyvandi, Flora, Kazmi, Rashid, Schved, Jean-François, Leavitt, Andrew D, Callaghan, Michael, Pan-Petesch, Brigitte, Quon, Doris V, Andrews, Jayson, Trinh, Alex, Li, Mingjin, Wong, Wing Yen

“…Adeno-associated virus (AAV)-mediated gene therapy may provide durable protection from bleeding events and reduce treatment burden for people with hemophilia A…”
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Microbial response on the first full-scale DEMON® biomass transfer for mainstream deammonification by Podmirseg, Sabine Marie, Gómez-Brandón, María, Muik, Markus, Stres, Blaz, Hell, Martin, Pümpel, Thomas, Murthy, Sudhir, Chandran, Kartik, Park, Hongkeun, Insam, Heribert, Wett, Bernhard

“…•Anammox monitoring via heme quantification, particle tracking and molecular tools.•Anammox biomass retention successfully achieved in the…”
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Atypical late diagnosis of Noonan syndrome revealed by bleedings due to platelet dysfunction by Fiore, Mathieu, Castet, Sabine-Marie, Bordet, Jean-Claude, Naudion, Sophie, Alessi, Marie-Christine

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CoMA - an intuitive and user-friendly pipeline for amplicon-sequencing data analysis by Hupfauf, Sebastian, Etemadi, Mohammad, Fernández-Delgado Juárez, Marina, Gómez-Brandón, María, Insam, Heribert, Podmirseg, Sabine Marie

“…In recent years, there has been a veritable boost in next-generation sequencing (NGS) of gene amplicons in biological and medical studies. Huge amounts of data…”
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Hsa-miR-99b/let-7e/miR-125a Cluster Regulates Pathogen Recognition Receptor-Stimulated Suppressive Antigen-Presenting Cells by Hildebrand, Dagmar, Eberle, Mariel-Esther, Wölfle, Sabine Marie, Egler, Franziska, Sahin, Delal, Sähr, Aline, Bode, Konrad A, Heeg, Klaus

“…Antigen-presenting cells (APCs) regulate the balance of our immune response toward microbes. Whereas immunogenic APCs boost inflammation and activate…”
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Editorial for Special Issue "Unleashing the Hidden Potential of Anaerobic Fungi" by Lebuhn, Michael, Podmirseg, Sabine Marie, Baier, Urs

“…Anaerobic fungi (AF) of the phylum are a very peculiar group of microorganisms [...]…”
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Quantities of Intra- and Extracellular DNA Reveal Information About Activity and Physiological State of Methanogenic Archaea by Nagler, Magdalena, Podmirseg, Sabine Marie, Mayr, Markus, Ascher-Jenull, Judith, Insam, Heribert

“…Although being a common aim of many microbial ecology studies, measuring individual physiological conditions of a microbial group or species within a complex…”
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No time to die: Comparative study on preservation protocols for anaerobic fungi by Vinzelj, Julia, Joshi, Akshay, Young, Diana, Begovic, Ljubica, Peer, Nico, Mosberger, Lona, Luedi, Katharina Cécile Schmid, Insam, Heribert, Flad, Veronika, Nagler, Magdalena, Podmirseg, Sabine Marie

“…Anaerobic fungi (AF, phylum Neocallimastigomycota) are best known for their ability to anaerobically degrade recalcitrant lignocellulosic biomass through…”
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Monofluoroalkene‐Isostere as a 19F NMR Label for the Peptide Backbone: Synthesis and Evaluation in Membrane‐Bound PGLa and (KIGAKI)3 by Drouin, Myriam, Wadhwani, Parvesh, Grage, Stephan L., Bürck, Jochen, Reichert, Johannes, Tremblay, Sébastien, Mayer, Marie Sabine, Diel, Christian, Staub, Alexander, Paquin, Jean‐François, Ulrich, Anne S.

“…Solid‐state 19F NMR is a powerful method to study the interactions of biologically active peptides with membranes. So far, in labelled peptides, the…”
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Comparative evaluation of multiple methods to quantify and characterise granular anammox biomass by Sabine Marie, Podmirseg, Pümpel, Thomas, Markt, Rudolf, Murthy, Sudhir, Bott, Charles, Wett, Bernhard

“…Six methodologically different approaches were evaluated and compared regarding their suitability to quantify and characterise granular anammox biomass. The…”
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Buwchfawromyces eastonii gen. nov., sp. nov.: a new anaerobic fungus (Neocallimastigomycota) isolated from buffalo faeces by Callaghan, Tony Martin, Podmirseg, Sabine Marie, Hohlweck, Daniel, Edwards, Joan Elizabeth, Puniya, Anil Kumar, Dagar, Sumit Singh, Griffith, Gareth Wyn

“…The novel anaerobic fungus Buwchfawromyces eastonii gen. nov., sp. nov., belonging to order Neocallimastigales (phylum Neocallimastigomycota ) is described…”
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Effect of Growth Media on the Diversity of Neocallimastigomycetes from Non-Rumen Habitats by Joshi, Akshay, Young, Diana, Huang, Liren, Mosberger, Lona, Munk, Bernhard, Vinzelj, Julia, Flad, Veronika, Sczyrba, Alexander, Griffith, Gareth W, Podmirseg, Sabine Marie, Warthmann, Rolf, Lebuhn, Michael, Insam, Heribert

“…Anaerobic fungi (AF), belonging to the phylum are a pivotal component of the digestive tract microbiome of various herbivorous animals. In the last decade, the…”
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Development of a larval bioassay using the calanoid copepod, Eurytemora affinis to assess the toxicity of sediment-bound pollutants by Lesueur, Teddy, Boulangé-Lecomte, Céline, Xuereb, Benoît, Budzinski, Hélène, Cachot, Jérôme, Vicquelin, Ludovic, Giusti-Petrucciani, Nathalie, Marie, Sabine, Petit, Fabienne, Forget-Leray, Joëlle

“…Hydrophobic pollutants, in particular sediment-sorbed organic compounds, are widespread in the aquatic environment and could represent a threat to living…”
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Older Adults’ Perspectives on Naturopathic Medicine’s Impact on Healthy Aging by Oberg, Erica B., Thomas, Marie-Sabine, McCarty, Melissa, Berg, Jennifer, Burlingham, Bonnie, Bradley, Ryan

“…High rates of complementary and alternative medicine (CAM) utilization among older adults are of interest because studies suggest relationships among CAM,…”
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