Results 201 to 210 of about 1,021,105 (352)

American 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 more
wiley   +1 more source

Whole-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 more
openalex   +1 more source

The role of exome sequencing in newborn screening for inborn errors of metabolism

Nature Medicine, 2020
Aashish N. Adhikari, R. Gallagher, Yaqiong Wang, R. Currier, George S. Amatuni, Laia Bassaganyas, Flavia Chen, Kunal Kundu, M. Kvale, S. Mooney, R. Nussbaum, S. Randi, J. Sanford, Joseph T C Shieh, Rajgopal Srinivasan, Uma Sunderam, Hao Tang, Dedeepya Vaka, Yang Zou, B. Koenig, P. Kwok, N. Risch, J. Puck, S. Brenner   +23 more
semanticscholar   +1 more source

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient. [PDF]

Birth Defects Res
Kerkeni N, Kharrat M, Kraoua L, Achour A, Maazoul F, Mrad R, Trabelsi M.   +6 more
europepmc   +1 more source

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13 [PDF]

, 2011
Minal Çalışkan, Jessica X. Chong, Lawrence H. Uricchio, Rebecca L. Anderson, Peixian Chen, Carrie Sougnez, Kiran Garimella, Stacey Gabriel, Mark A. DePristo, Khalid Shakir, Dietrich Matern, Soma Das, Darrel Waggoner, Dan L. Nicolae, Carole Ober   +14 more
openalex   +1 more source

Decision tree analysis as a preliminary evidence‐based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome

Arthritis &Rheumatology, Accepted Article.
Objective To develop evidence‐based criteria to classify SURF patients. Methods 112 SURF patients followed in a single tertiary referral center were analyzed. Patients with genetically confirmed hereditary recurrent fever (HRF) or with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome already analyzed for the Eurofever classification
Riccardo Papa, Francesca Bovis, Silvia Federici, Serena Palmeri, Marta Bustaffa, Giada Recchi, Roberta Bertelli, Roberta Caorsi, Stefano Volpi, Sabrina Fuehner, Veysel Cam, Anna Kozáková, Šárka Horáčková Fingerhutová, Antonella Insalaco, Dirk Foell, Seza Ozen, Isabella Ceccherini, Marco Gattorno, on behalf of the Eurofever study group for the Classification criteria of recurrent fevers and PerSAID project, Michael Hofer, Federica Vanoni, Jordi Anton, Juan Ignacio Arostegui, Karyl S. Barron, Eldad Ben‐Chetrit, Paul Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenke, Raphaela Goldbach‐Mansky, Ahmet Gul, Veronique Hentgen, Hal M. Hoffman, Tilmann Kallinich, Isabelle Koné‐Paut, Jasmin Kuemmerle‐Deschner, Helen J. Lachmann, Ronald M. Laxer, Avi Livneh, Laura Obici, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Natasa Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Daniel L. Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto   +54 more
wiley   +1 more source

Whole-exome sequencing identifies a CD38 variant in a Chinese family with hodgkin's lymphoma. [PDF]

Ann Hematol
Chen X, Xie L, Wu W, Jiang M, Cui Y, Zou L.   +5 more
europepmc   +1 more source

EXOME-SEQUENCING IN DENSLY AFFECTED PEDIGREES IDENTIFIES NEW CANDIDATE GENES FOR SCHIZOPHRENIA

, 2019
Franziska Degenhardt, Anna C. Koller, Lalit Kaurani, Karolina Worf, Frauke Degenhardt, Konrad Klockmeier, Till F. M. Andlauer, Hölger Thiele, Andrew McQuillin, Dan Rujescu, Marcella Rietschel, Wolfgang Maier, Sybille Schwab, Andreas Reif, Markus M. Nöthen   +14 more
openalex   +2 more sources

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies [PDF]

, 2018
E Quinlan-Jones, Jenny Lord, Denise Williams, S. Hamilton, Tamás Marton, Ruth Y. Eberhardt, Gabriele Rinck, Elena Prigmore, Rebecca Keelagher, Dominic McMullan, Eamonn R. Maher, Matthew E. Hurles, Mark D. Kilby   +12 more
openalex   +1 more source

OGFRL1 deficiency causes CRMO via pathological osteoclastogenesis, with therapeutic response to TNF inhibitor

Arthritis &Rheumatology, Accepted Article.
Objectives To verify the pathogenesis of the OGFRL1 loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a CRMO patient and investigate the underlying mechanism. Methods Whole exome sequencing and Sanger sequencing were performed to identify and confirm the variant.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source