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Results: 343
Ultra-short T2 components imaging of the whole brain using 3D dual-echo UTE MRI with rosette k-space pattern.
Xin Shen, Ali Caglar Özen, Antonia Sunjar, Serhat Ilbey, Stephen Sawiak, Riyi Shi, Mark Chiew, Uzay Emir
Sep 26, 2022
PURPOSE: This study aimed to develop a new 3D dual-echo rosette k-space trajectory, specifically designed for UTE MRI applications. The imaging of the ultra-short transverse relaxation time (uT2 ) of brain was acquired to test...
Population genetics of mouse lemur vomeronasal receptors
BACKGROUND: A major effort is underway to use population genetic approaches to identify loci involved in adaptation. One issue that has so far received limited attention is whether loci that show a phylogenetic signal of...
3D-Printed Hollow Microneedle-Lateral Flow Devices for Rapid Blood-Free Detection of C-Reactive Protein and Procalcitonin
Joe Turner, Emily Lay, Ute Jungwirth, Valentyna Varenko, H S Gill, Pedro Estrela, Hannah Leese
Aug 25, 2023
Hollow microneedle devices as a technology for interstitial fluid extraction show promise for the minimally invasive point-of-care detection of analytes. Despite increasing efforts toward on-patch diagnostics, the use of hollow...
3D printing biocompatibility hollow microneedles inflammation markers rapid diagnostics Skin penetration /dk/atira/pure/subjectarea/asjc/2200/2211 name=Mechanics of Materials /dk/atira/pure/subjectarea/asjc/2500/2500 name=General Materials Science /dk/atira/pure/subjectarea/asjc/2200/2209 name=Industrial and Manufacturing Engineering
Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome.
Christian Gatz, Denisa Hathazi, Ute Münchberg, Stephan Buchkremer, Thomas Labisch, Ben Munro, Rita Horvath, Ana Töpf, Joachim Weis, Andreas Roos
Jul 11, 2019
Background and objective: Recessive mutations in the SIL1 gene cause Marinesco-Sjögren syndrome (MSS), a rare neuropediatric disorder. MSS-patients typically present with congenital cataracts, intellectual disability, cerebellar...
Symptom interval and treatment burden for patients with malignant central nervous system germ cell tumours.
James Hayden, Matthew J Murray, Ute Bartels, Thankamma Ajithkumar, Brinda Muthusamy, Anthony Penn, Gabriele Calaminus, James Nicholson
Sep 30, 2019
3D-Printed Hollow Microneedle-Lateral Flow Devices for Rapid Blood-Free Detection of C-Reactive Protein and Procalcitonin
Joe Turner, Emily Lay, Ute Jungwirth, Valentyna Varenko, H S Gill, Pedro Estrela, Hannah Leese
Aug 25, 2023
Hollow microneedle devices as a technology for interstitial fluid extraction show promise for the minimally invasive point-of-care detection of analytes. Despite increasing efforts toward on-patch diagnostics, the use of hollow...
3D printing biocompatibility hollow microneedles inflammation markers rapid diagnostics Skin penetration /dk/atira/pure/subjectarea/asjc/2200/2211 name=Mechanics of Materials /dk/atira/pure/subjectarea/asjc/2500/2500 name=General Materials Science /dk/atira/pure/subjectarea/asjc/2200/2209 name=Industrial and Manufacturing Engineering
Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3.
Matthew J Jennings, Denisa Hathazi, Chi DL Nguyen, Benjamin Munro, Ute Münchberg, Robert Ahrends, Annette Schenck, Ilse Eidhof, Erik Freier, Matthis Synofzik, Rita Horvath, Andreas Roos
Oct 20, 2021
Recessive mutations in DNAJC3, an endoplasmic reticulum (ER)-resident BiP co-chaperone, have been identified in patients with multisystemic neurodegeneration and diabetes mellitus. To further unravel these pathomechanisms, we...
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Junction Electronic and Optoelectronic Devices from Transition Metal Dichalcogenide Lateral Heterostructures Grown by One‐Pot Chemical Vapor Deposition Synthesis
Emad Najafidehaghani, Ziyang Gan, Antony George, Tibor Lehnert, Gia Quyet Ngo, Christof Neumann, Tobias Bucher, Isabelle Staude, David Kaiser, Tobias Vogl, Uwe Hübner, Ute Kaiser, Falk Eilenberger, Andrey Turchanin
May 04, 2021
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
Andrea Gangfuß, Artur Czech, Andreas Hentschel, Ute Münchberg, Rita Horvath, Ana Töpf, Emily O'Heir, Hanns Lochmüller, Florian Stehling, Cordula Kiewert, Albert Sickmann, Alma Kuechler, Frank J Kaiser, Heike Kölbel, Jon Christiansen, Ulrike Schara-Schmidt, Andreas Roos
Jan 04, 2022
KIAA1033 WASHC4 coherent anti-Stokes Raman scattering microscopy dysmorphisms Fibroblast proteomics Intellectual Disability muscle autophagy valosin-containing protein Child Developmental Disabilities Humans Intellectual Disability Muscle Skeletal Mutation Pedigree Phenotype Proteomics Siblings Exome Sequencing
Automated 3D MRI rendering of the craniofacial skeleton
Abstract: Purpose: Automated bone segmentation from MRI datasets would have a profound impact on clinical utility, particularly in the craniofacial skeleton where complex anatomy is coupled with radiosensitive organs. Techniques...
Automated 3D MRI rendering of the craniofacial skeleton
PURPOSE: Automated bone segmentation from MRI datasets would have a profound impact on clinical utility, particularly in the craniofacial skeleton where complex anatomy is coupled with radiosensitive organs. Techniques such as...
Automated 3D MRI rendering of the craniofacial skeleton
Abstract: Purpose: Automated bone segmentation from MRI datasets would have a profound impact on clinical utility, particularly in the craniofacial skeleton where complex anatomy is coupled with radiosensitive organs. Techniques...
Comparison of Parent Questionnaires, Examiner-Led Assessment and Parents’ Concerns at 14 Months of Age as Indicators of Later Diagnosis of Autism
Greg Pasco, Kim Davies, Helena Ribeiro, Leslie Tucker, Carrie Allison, Simon Baron-Cohen, Mark H. Johnson, Tony Charman, Rachael Bedford, Anna Blasi, Patrick Bolton, Celeste Cheung, Mayada Elsabbagh, Janice Fernandes, Isobel Gammer, Natasa Ganea, Teea Gliga, Jeanne Guiraud, Ute Liersch, Michelle Liew, Sarah Lloyd-Fox, Helen Maris, Louise O’Hara, Andrew Pickles, Erica Salomone
Mar 12, 2021
Abstract: Parents participating in a prospective longitudinal study of infants with older siblings with autism completed an autism screening questionnaire and were asked about any concerns relating to their child’s development...
EANO, SNO and Euracan consensus review on the current management and future development of intracranial germ cell tumors in adolescents and young adults.
Didier Frappaz, Girish Dhall, Matthew J Murray, Stuart Goldman, Cecile Faure Conter, Jeffrey Allen, Rolf Dieter Kortmann, Daphne Haas-Kogen, Giovanni Morana, Jonathan Finlay, James C Nicholson, Ute Bartels, Mark Souweidane, Stefan Schönberger, Alexandre Vasiljevic, Patricia Robertson, Assunta Albanese, Claire Alapetite, Thomas Czech, Chin C Lau, Patrick Wen, David Schiff, Dennis Shaw, Gabriele Calaminus, Eric Bouffet
Nov 08, 2021
The incidence of intracranial germ cell tumors (iGCT) is much lower in European and North American (E&NA) than in Asian population. However, E&NA cooperative groups have simultaneously developed with success treatment strategies...
Determinants of diet and physical activity (DEDIPAC)
Johannes Brug, Hidde P van der Ploeg, Anne Loyen, Wolfgang Ahrens, Oliver Allais, Lene F Andersen, Greet Cardon, Laura Capranica, Sebastien Chastin, Ilse De Bourdeaudhuij, Marieke De Craemer, Alan Donnelly, Ulf Ekelund, Paul Finglas, Marion Flechtner-Mors, Antje Hebestreit, Thomas Kubiak, Massimo Lanza, Nanna Lien, Ciaran MacDonncha, Mario Mazzocchi, Pablo Monsivais, Marie Murphy, Mary Nicolaou, Ute Nöthlings, Donal J O'Gorman, Britta Renner, Gun Roos, Matthijs van den Berg, Matthias B Schulze, Jürgen M Steinacker, Karien Stronks, Dorothee Volkert, Jeroen Lakerveld, DEDIPAC consortium
Feb 13, 2018
The establishment of the Determinants of Diet and Physical Activity (DEDIPAC) Knowledge Hub, 2013–2016, was the first action taken by the ‘Healthy Diet for a Healthy Life’ European Joint Programming Initiative. DEDIPAC aimed to...
Multisystem screening reveals SARS-CoV-2 in neurons of the myenteric plexus and in megakaryocytes.
Sandra Gray-Rodriguez, Melanie P Jensen, Maria Otero-Jimenez, Brian Hanley, Olivia C Swann, Patrick A Ward, Francisco J Salguero, Nadira Querido, Ildiko Farkas, Elisavet Velentza-Almpani, Justin Weir, Wendy S Barclay, Miles W Carroll, Zane Jaunmuktane, Sebastian Brandner, Ute Pohl, Kieren Allinson, Maria Thom, Claire Troakes, Safa Al-Sarraj, Magdalena Sastre, Djordje Gveric, Steve Gentleman, Candice Roufosse, Michael Osborn, Javier Alegre-Abarrategui
Mar 31, 2022
The circadian clock rephases during lateral root organ initiation in Arabidopsis thaliana.
Ute Voß, Michael H Wilson, Kim Kenobi, Peter D Gould, Fiona C Robertson, Wendy A Peer, Mikaël Lucas, Kamal Swarup, Ilda Casimiro, Tara J Holman, Darren M Wells, Benjamin Péret, Tatsuaki Goh, Hidehiro Fukaki, T Charlie Hodgman, Laurent Laplaze, Karen J Halliday, Karin Ljung, Angus S Murphy, Anthony J Hall, Alex AR Webb, Malcolm J Bennett
Aug 17, 2018
The endogenous circadian clock enables organisms to adapt their growth and development to environmental changes. Here we describe how the circadian clock is employed to coordinate responses to the key signal auxin during lateral...
A polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients.
Petra Seibold, Peter Schmezer, Sabine Behrens, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Dieter Flesch-Janys, Heli Nevanlinna, Rainer Fagerholm, Kristiina Aittomäki, Carl Blomqvist, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Diether Lambrechts, Hans Wildiers, Vessela Kristensen, Grethe Grenaker Alnæs, Silje Nord, Anne-Lise Borresen-Dale, Maartje J Hooning, Antoinette Hollestelle, Agnes Jager, Caroline Seynaeve, Jingmei Li, Jianjun Liu, Keith Humphreys, Alison M Dunning, Valerie Rhenius, Mitul Shah, Maria Kabisch, Diana Torres, Hans-Ulrich Ulmer, Ute Hamann, Joellen M Schildkraut, Kristen S Purrington, Fergus J Couch, Per Hall, Paul Pharoah, Doug F Easton, Marjanka K Schmidt, Jenny Chang-Claude, Odilia Popanda
Sep 29, 2016
BACKGROUND: Personalized therapy considering clinical and genetic patient characteristics will further improve breast cancer survival. Two widely used treatments, chemotherapy and radiotherapy, can induce oxidative DNA damage...
PredictCBC-2.0
Daniele Giardiello, Maartje J Hooning, Michael Hauptmann, Renske Keeman, BAM Heemskerk-Gerritsen, Heiko Becher, Carl Blomqvist, Stig E Bojesen, Manjeet K Bolla, Nicola J Camp, Kamila Czene, Peter Devilee, Diana M Eccles, Peter A Fasching, Jonine D Figueroa, Henrik Flyger, Montserrat García-Closas, Christopher A Haiman, Ute Hamann, John L Hopper, Anna Jakubowska, Floor E Leeuwen, Annika Lindblom, Jan Lubiński, Sara Margolin, Maria Elena Martinez, Heli Nevanlinna, Ines Nevelsteen, Saskia Pelders, Paul DP Pharoah, Sabine Siesling, Melissa C Southey, Annemieke H van der Hout, Liselotte P van Hest, Jenny Chang-Claude, Per Hall, Douglas F Easton, Ewout W Steyerberg, Marjanka K Schmidt
Dec 08, 2022
BACKGROUND: Prediction of contralateral breast cancer (CBC) risk is challenging due to moderate performances of the known risk factors. We aimed to improve our previous risk prediction model (PredictCBC) by updated follow-up and...
Bcac Brca1/2 Germline Mutation Breast Cancer Association Consortium Breast Cancer Genetic Predisposition Clinical Decision-Making Contralateral breast cancer Contralateral Preventive Mastectomy polygenic risk score Prediction Performance Risk prediction Humans Female Breast Neoplasms Mastectomy Prophylactic Mastectomy Germ-Line Mutation Risk Factors
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia
Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H Murray, Craig A Bingman, Selina Reich, Jan Kern, Anna Heinzmann, Gessica Vasco, Enrico Bertini, Ginevra Zanni, Alexandra Durr, Stefania Magri, Franco Taroni, Alessandro Malandrini, Jonathan Baets, Peter De Jonghe, Willem de Ridder, Matthieu Bereau, Stephanie Demuth, Christos Ganos, A Nazli Basak, Hasmet Hanagasi, Semra Hiz Kurul, Benjamin Bender, Ludger Schöls, Ute Grasshoff, Thomas Klopstock, Rita Horvath, Bart van de Warrenburg, Lydie Burglen, Christelle Rougeot, Claire Ewenczyk, Michel Koenig, Filippo M Santorelli, Mathieu Anheim, Renato P Munhoz, Tobias Haack, Felix Distelmaier, David J Pagliarini, Hélène Puccio, Matthis Synofzik
May 18, 2020
OBJECTIVE: To foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum of COQ8A-ataxia in a large worldwide cohort, and provide first progression data, including...
PredictCBC-2.0
Daniele Giardiello, Maartje J Hooning, Michael Hauptmann, Renske Keeman, B A M Heemskerk-Gerritsen, Heiko Becher, Carl Blomqvist, Stig E Bojesen, Manjeet K Bolla, Nicola J Camp, Kamila Czene, Peter Devilee, Diana M Eccles, Peter A Fasching, Jonine D Figueroa, Henrik Flyger, Montserrat García-Closas, Christopher A Haiman, Ute Hamann, John L Hopper, Anna Jakubowska, Floor E Leeuwen, Annika Lindblom, Jan Lubiński, Sara Margolin, Maria Elena Martinez, Heli Nevanlinna, Ines Nevelsteen, Saskia Pelders, Paul D P Pharoah, Sabine Siesling, Melissa C Southey, Annemieke H van der Hout, Liselotte P van Hest, Jenny Chang-Claude, Per Hall, Douglas F Easton, Ewout W Steyerberg, Marjanka K Schmidt
Nov 21, 2022
Background
Prediction of contralateral breast cancer (CBC) risk is challenging due to moderate performances of the known risk factors. We aimed to improve our previous risk prediction model (PredictCBC) by updated...
Clinical Decision-Making Risk prediction Contralateral breast cancer polygenic risk score Prediction Performance Bcac Breast Cancer Association Consortium Brca1/2 Germline Mutation Contralateral Preventive Mastectomy Breast Cancer Genetic Predisposition Humans Breast Neoplasms Mastectomy Risk Factors Germ-Line Mutation Female Prophylactic Mastectomy
Published by: Breast cancer research : BCR
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