Results 121 to 130 of about 53,473 (249)
Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT
The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges +21 morewiley +1 more sourcePrenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT
Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li +13 morewiley +1 more sourceEnvironmental Exposures, Chronic Sinusitis, and Olfaction in People With Cystic Fibrosis
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background
Environmental air pollutants may contribute to chronic rhinosinusitis (CRS), but their relationship with upper airway disease in people with cystic fibrosis (CF) remains poorly understood. This study evaluated associations between long‐term ambient air pollutant exposure and CRS severity and olfactory dysfunction in adults with CF ...Benton Tullis, Larissa Nicolas, Jeremiah A. Alt, Todd E. Bodner, Michael Chang, Naweed I. Chowdhury, Sei Chung, Patricia Eshaghian, Yuqing A. Gao, Anne Getz, Amarbir S. Gill, Peter H. Hwang, Ashoke Khanwalkar, Adam J. Kimple, Todd Kingdom, Jivianne T. Lee, Douglas A. Li, Jess C. Mace, Jayakar V. Nayak, Meghan Norris, Jonathan B. Overdevest, Zara M. Patel, Katie Poch, Rodney J. Schlosser, Kristine A. Smith, Zachary M. Soler, Jeffrey D. Suh, Grant A. Turner, Marilene B. Wang, Milene T. Saavedra, Jennifer L. Taylor, Daniel M. Beswick +31 morewiley +1 more sourceBiometry, the safe key
, 2010 Biometry is the next step in authentication, why do not we take this stepforward in our communication security systems?Fraile Hurtado, M., Menéndez Miguel, P., Delgado Villanueva, V., Herrero Langreo, M. +3 morecore Assessing the Mucosal Inflammatory Endotype of Obesity in Chronic Rhinosinusitis
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background
Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory syndrome of the paranasal sinuses that is defined phenotypically as either with nasal polyps (CRSwNP) or without nasal polyps (CRSsNP). More recently, inflammatory markers have been used to cluster patients into putative endotypes that are presumed to have a common ...Jeffanie W. Gayoso, Li‐Ching Huang, Quanhu Sheng, Daniel Lofgren, Ping Li, Katherine Cahill, Mason Krysinski, Rakesh K. Chandra, Justin H. Turner, Naweed Chowdhury +9 morewiley +1 more sourceA self‐retaining mouth prop for intraoral access during periodontal surgery in rat models: A technical note
Animal Models and Experimental Medicine, EarlyView.A mouth prop designed to mimic the oral cavity of rats was made that provided stable, self‐retaining retraction, thereby facilitating oral surgery on rodents. Compared to conventional methods, it decreased surgical time, operator fatigue, and slippage. Its use led to higher efficiency and fewer complications and it was cost effective to produce.Saravanan Sampoornam Pape Reddy, Delfin Lovelina Francis, Vivek Kumar Thakur, Balaji Manohar, Shaili Pradhan, Shesh Rai +5 morewiley +1 more sourceMechanical Thrombectomy Versus Medical Management for Large Ischemic Core Stroke Identified before Inter‐Hospital Transfer: A Post Hoc Analysis of the LASTE Trial
Annals of Neurology, EarlyView.Objective
This study assessed the efficacy of thrombectomy in acute ischemic stroke because of large‐vessel occlusion (AIS‐LVO) initially admitted to primary stroke centers (PSC) and subsequently transferred to a comprehensive stroke center (CSC), with a large ischemic core identified before transfer.Pierre Seners, Adrien ter Schiphorst, Julien Labreuche, Bertrand Lapergue, Hilde Henon, Nasreddine Nouri, Benjamin Gory, Sébastien Richard, Jean‐François Albucher, Christophe Cognard, Liesjet E.H. van Dokkum, David S. Liebeskind, Tudor G. Jovin, Vincent Costalat, Caroline Arquizan, for the LASTE investigators, Caroline Arquizan, Vincent Costalat, Xavier Ayrignac, Mahmoud Charif, Lucas Corti, Cyril Dargazanli, Imad Derraz, Nicolas Gaillard, Grégory Gascou, Pierre‐Henri Lefevre, Anaïs Lippi, Isabelle Mourand, Pauline Prin, Perrine Schmitt, Florian Savenier, Adrien Ter Schiphorst, Igor Sibon, Gaultier Marnat, Pierre Briau, Florent Gariel, Jean‐Sébastien Liegey, Malgorzata Milnerowicz, Jean Papaxanthos, Lisa Papillon, Sophie Godard, Anne Pasco‐Papon, Alice Corfu, Jean‐Baptiste Girot, Vincent L'Allinec, Alderic Lecluse, Matthias Lamy, Stéphane Velasco, Nadeem Beydoun, Samy Boucebci, Victor Dumas, Cédric Fauche, Jean‐Philippe Neau, Paola Palazzo, Nicolas Raynaud, Emmanuel Houdart, Mikael Mazighi, Agnès Aghetti, Anna Dimitrovic, Alexis Guedon, Peggy Reiner, Olivier Naggara, Guillaume Turc, Wagih Benhassen, Basile Kerleroux, Christine Rodriguez Regent, Frédéric Clarencon, Sonia Alamowitch, Julien Allard, Flore Baronnet, Sophie Crozier, Stephen Delorme, Sandrine Deltour, Gaspard Gerschenfeld, Anne leger, Kevin Premat, Charlotte Rosso, Yves Samson, Eimad Shotar, Laurent Spelle, Christian Denier, Jildaaz Caroff, Vanessa Chalumeau, Olivier Chassin, Sophie Gallas, Léon Ikka, Nicolas Legris, Mariana Sarov Riviere, Laura Venditti, Benjamin Gory, Sébastien Richard, René Anxionnat, Mathieu Bonnerot, Liang Liao, Nolwenn Riou‐Comte, Romain Bourcier, Benoît Guillon, Pierre‐Louis Alexandre, Benjamin Daumas‐Duport, Hubert Desal, Lili Detraz, Cécile Preterre, Valérie Wolff, Raoul Pop, Yannick Bejot, Frédéric Ricolfi, Laura Baptiste, Pierre‐Olivier Comby, Brivael Lemogne, Pierre Thouant, Jean‐Christophe Gentric, Serge Timsit, François‐Mathias Merrien, Lorena Nico, Julien Ognard, Laurina Simoni, Chrysanthi Papagiannaki, Ozlem Ozkul, Aude Triquenot Bagan, Michel Piotin, Michael Obadia, Pierre Seners, Nasreddine Nouri, Hilde Henon, Marie Bodenant, Nicolas Bricout, Barbara Casolla, Nelly Dequatre, Lucie Della Shiava, Maco Pasi, François Caparros, Laurent Puy, Arnaud Karam, Olfa Kaaouana, Kaelig Watel, Giuseppe Scopelliti, Mariam Annan, Grégoire Boulouis, Richard Bibi, Arnaud Bretonniere, Marie Gaudron, Denis Herbreteau, Héloise Ifergan, Kevin Jannot, Elisabeth Molinier, Maco Pasi, Cyril Chivot, Chantal Lamy, Emmanuel Wiener, Audrey Arnoux Courselle, Sandrine Canaple, Elisa Ouin, Charbel Mounayer, Francisco Macian Montoro, Suzana Saleme, Omer Eker, Tae‐Hee Cho, Morgane Laubacher, Roberto Riva, Christophe Cognard, Jean‐François Albucher, Lionel Calviere, Louis Fontaine, Jean‐Marc Olivot, Nicolas Raposo, Alain Viguier, Laurent Suissa, Hervé Brunel, Emilie Doche, Nadia Laksiri, Stephanie Machado, Ophelie Osman, Roxane Peres, Emanuelle Robinet, Caroline Rey, Federico Di Maria, Bertrand Lapergue, Emmanuel Chabert, Anna Ferrier, Elie Lteif, Pere Cardona, Lara Blanca, Helena Quesada, Ana Núñez, Andrés Paipa, Mònica Millán, Alejandro Bustamante, Laura Dorado Bouix, Christopher Calib, Jaime Carbonell, Gema Eugenia García Amor, Garbiñe Ezcurra, Belén Flores, Manuel Gómez Choco, Meritxell Gomis Cortina, María Hernández Pérez, Marina Hernández, Clara Larrañaga, Manuel Domínguez Lizarbe, Marina Martínez, Alex Menéndez Albarracín, Natalia Pérez de la Ossa, Neus Rabaneda, Anna Ramos Pachón, Luis Alejandro Rodríguez, Sara Rubio, Isabel Puig, Daniel Santana l, Adrian Valls, Barbara Yugueros, Denisse Wenger, Arturo Renú, Sergio Amaro, Mircea Balasa, Jose Maria Cabrera, Ángel Chamorro, Estefania Conde, Jose Miguel Contador, Antonio Doncel‐Mariano, Mar Guasp, Laura Llansó, Laura Llull, Gerard Mayà Casalprim, Carmen Montejo, Alejandro Rodríguez, Salvatore Rudilosso, Almudena Sánchez, Daniel Santana, Xabier Urra Nuin, Víctor Augusto Vera Monge, Juan F. Arenillas, Mercedes De Lera, María Esther Ramos, María del Mar Freijo, Garazi Aguirre, Laura Cabral, Irene Díaz, Alejandro Durán Lozano, Alain Luna, Jon Martín, Ana Moreno Estébanez, Walter Sifontes, Iratxe Ugarriza, Elena López‐Cancio, Pedro Vega, Lorena Benavente, Sergio Calleja Puerta, María Castañón Apilánez, Álvaro Criado, David Fuentes, Carmen García‐Cabo, Montserrat González Delgado, Gemma María González, Javier Molina Gil, Davinia Larrosa Campo, Begoña López López, Antía Reguera Acuña, María Rico Santos, Patricia Zunzunegui +258 morewiley +1 more sourcePrediction of First and Recurrent Falls in Parkinson's Disease
Annals of Neurology, EarlyView.Objective
To develop and externally validate prediction models for next‐year falls in Parkinson's disease (PD), and to evaluate the incremental value of imaging and fluid biomarkers. Methods
We developed models in Parkinson's Progression Markers Initiative (PPMI) to predict next‐year falls with external validation in University of Pennsylvania (UPenn ...Joaquin A. Vizcarra, Kat Hefter, Michael Tran Duong, Ashkan Ertefaie, Umberto Tachinardi, Christopher A. Olm, Hamsanandini Radhakrishnan, Corey T. McMillan, David Irwin, Daniel Weintraub, Brian Litt, Dani S. Bassett, Andrew Siderowf, The Parkinson's Progression Markers Initiative +13 morewiley +1 more source
