Results 131 to 140 of about 178,485 (305)
The importance of dynamic reanalysis In diagnostic whole exome sequencing [PDF]
, 2016 Goldstein, DB, Need, AC, Petrovski, SP, Schoch, K, Shashi, V +4 morecore +1 more sourceMolecular Characterization of Colorectal Signet-Ring Cell Carcinoma Using Whole-Exome and RNA Sequencing
, 2018 Jae‐Yong Nam, Bo Young Oh, Hye Kyung Hong, Joon Seol Bae, Tae Won Kim, Sang Yun Ha, Donghyun Park, Woo Yong Lee, Hee Cheol Kim, Seong Hyeon Yun, Yoon Ah Park, Je‐Gun Joung, Woong‐Yang Park, Yong Beom Cho +13 moreopenalex +1 more sourceA Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant
Annals of Neurology, EarlyView.Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda +16 morewiley +1 more sourceElectronic Health Records to Test Multimorbidity Influences to Plasma Biomarker Interpretation for Alzheimer's Disease
Annals of Neurology, EarlyView.Objective
Plasma biomarkers of Alzheimer's disease (AD) pathology are frequently tested in specialized research settings, which limits the generalizability of findings. Using electronic health records and banked plasma, we evaluated plasma biomarkers—phosphorylated tau 217 (p‐tau217), β‐amyloid 1–42/1–40 (Aβ42/Aβ40) and p‐tau217/Aβ42—in a real‐world ...Katheryn A.Q. Cousins, Rory Boyle, Colleen Morse, Anurag Verma, Christopher A. Brown, Kyra S. O'Brien, Marina Serper, Nadia Dehghani, Penn Medicine BioBank, Corey T. McMillan, Edward B. Lee, Leslie M. Shaw, David A. Wolk +12 morewiley +1 more sourceWhole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response [PDF]
, 2015 Himisha Beltran, Kenneth Eng, Juan Miguel Mosquera, Alexandros Sigaras, Alessandro Romanel, Hanna Rennert, Myriam Kossaï, Chantal Pauli, Bishoy M. Faltas, Jacqueline Fontugne, Kyung Park, Jason R. Banfelder, Davide Prandi, Neel S. Madhukar, Tuo Zhang, Jessica Padilla, Noah Greco, Terra J. McNary, Erick Herrscher, David Wilkes, Theresa Y. MacDonald, Hui Xue, Vladimir Vacic, Anne-Katrin Emde, Dayna M. Oschwald, Adrian Y. Tan, Zhengming Chen, Colin C. Collins, Martin Gleave, Yuzhuo Wang, Dimple Chakravarty, Marc Schiffman, Robert Kim, Fabien Campagne, Brian D. Robinson, David M. Nanus, Scott T. Tagawa, Jenny Xiang, Agata Smogorzewska, Francesca Demichelis, David S. Rickman, Andrea Sboner, Olivier Elemento, Mark A. Rubin +43 moreopenalex +1 more sourceAmerican College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel
Arthritis &Rheumatology, EarlyView.Objective
Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.Arsene Mekinian, Sophie Georgin‐Lavialle, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heilblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson +111 morewiley +1 more sourceWhole‐exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data [PDF]
, 2018 D. Matthew Gianferante, Melissa Rotunno, Michael Dean, Weiyin Zhou, Belynda Hicks, Katrina Wyatt, Kristine Jones, Mingyi Wang, Bin Zhu, Alisa M. Goldstein, Kari G. Rabe +10 moreopenalex +1 more source
