Clinical and genetic features of a large cohort of individuals with autoinflammatory disease

被引:0
|
作者
Deuitch, Natalie [1 ]
Laird, Ryan [1 ]
Matthiasardottir, Brynja [1 ]
Wang, Hongying [1 ]
Rosensweig, Sofia [1 ]
Pimpale, Pallavi [1 ]
Ombrello, Amanda [1 ]
Aksentijevich, Ivona [1 ]
Kastner, Daniel [1 ]
机构
[1] NHGRI, NIH, Bethesda, MD 20892 USA
关键词
D O I
10.1016/j.gim.2022.01.375
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
eP340
引用
收藏
页码:S212 / S213
页数:2
相关论文
共 50 条
  • [31] Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
    Elena Maria Pennisi
    Marcello Arca
    Enrico Bertini
    Claudio Bruno
    Denise Cassandrini
    Adele D’amico
    Matteo Garibaldi
    Francesca Gragnani
    Lorenzo Maggi
    Roberto Massa
    Sara Missaglia
    Lucia Morandi
    Olimpia Musumeci
    Elena Pegoraro
    Emanuele Rastelli
    Filippo Maria Santorelli
    Elisabetta Tasca
    Daniela Tavian
    Antonio Toscano
    Corrado Angelini
    Orphanet Journal of Rare Diseases, 12
  • [32] Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
    Pennisi, Elena Maria
    Arca, Marcello
    Bertini, Enrico
    Bruno, Claudio
    Cassandrini, Denise
    D'amico, Adele
    Garibaldi, Matteo
    Gragnani, Francesca
    Maggi, Lorenzo
    Massa, Roberto
    Missaglia, Sara
    Morandi, Lucia
    Musumeci, Olimpia
    Pegoraro, Elena
    Rastelli, Emanuele
    Santorelli, Filippo Maria
    Tasca, Elisabetta
    Tavian, Daniela
    Toscano, Antonio
    Angelini, Corrado
    ORPHANET JOURNAL OF RARE DISEASES, 2017, 12 : 1 - 10
  • [33] Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands
    Alonso-Perez, Jorge
    de Leon Hernandez, Juan Carlos
    Perez-Perez, Helena
    Dolores Mendoza-Grimon, Maria
    Jose Gutierrez-Martinez, Antonio
    Hadjigeorgiou, Ioanna
    Monton-Alvarez, Fernando
    Gonzalez-Quereda, Lidia
    Alonso-Jimenez, Alicia
    Suarez-Calvet, Xavier
    Diaz-Manera, Jordi
    EUROPEAN JOURNAL OF NEUROLOGY, 2022, 29 (05) : 1488 - 1495
  • [34] Genetic screening in the clinical suspicion of autoinflammatory diseases
    Turanli, E. Tahir
    JOURNAL OF BIOTECHNOLOGY, 2019, 305 : S10 - S10
  • [35] Autoinflammatory diseases: an update of clinical and genetic aspects
    Yao, Q.
    Furst, D. E.
    RHEUMATOLOGY, 2008, 47 (07) : 946 - 951
  • [36] IgG4-related disease in Italy: clinical features and outcomes of a large cohort of patients
    Campochiaro, C.
    Ramirez, G. A.
    Bozzolo, E. P.
    Lanzillotta, M.
    Berti, A.
    Baldissera, E.
    Dagna, L.
    Praderio, L.
    Scotti, R.
    Tresoldi, M.
    Roveri, L.
    Mariani, A.
    Balzano, G.
    Castoldi, R.
    Doglioni, C.
    Sabbadini, M. G.
    Della-Torre, E.
    SCANDINAVIAN JOURNAL OF RHEUMATOLOGY, 2016, 45 (02) : 135 - 145
  • [37] IGG4-RELATED DISEASE IN EASTERN MEDITERRANEAN: CLINICAL FEATURES AND OUTCOMES OF A LARGE COHORT
    Karadag, O.
    Erden, A.
    Ayhan, A. S.
    Bolek, E. C.
    Kalyoncu, U.
    Armagan, B.
    Sari, A.
    Kilic, L.
    Akdogan, A.
    Hazirolan, T.
    Akdogan, B.
    Bilgen, S. A.
    Baydar, D. E.
    Kiraz, S.
    Ertenli, I.
    ANNALS OF THE RHEUMATIC DISEASES, 2017, 76 : 720 - 721
  • [38] Autoinflammatory Disease Reloaded: A Clinical Perspective
    Kastner, Daniel L.
    Aksentijevich, Ivona
    Goldbach-Mansky, Raphaela
    CELL, 2010, 140 (06) : 784 - 790
  • [39] Clinical and genetic architecture of a large cohort with auditory neuropathy
    Wang, Hongyang
    Guan, Liping
    Wu, Xiaonan
    Guan, Jing
    Li, Jin
    Li, Nan
    Wu, Kaili
    Gao, Ya
    Bing, Dan
    Zhang, Jianguo
    Lan, Lan
    Shi, Tao
    Li, Danyang
    Wang, Wenjia
    Xie, Linyi
    Xiong, Fen
    Shi, Wei
    Zhao, Lijian
    Wang, Dayong
    Yin, Ye
    Wang, Qiuju
    HUMAN GENETICS, 2024, 143 (3) : 293 - 309
  • [40] Clinical and genetic architecture of a large cohort with auditory neuropathy
    Hongyang Wang
    Liping Guan
    Xiaonan Wu
    Jing Guan
    Jin Li
    Nan Li
    Kaili Wu
    Ya Gao
    Dan Bing
    Jianguo Zhang
    Lan Lan
    Tao Shi
    Danyang Li
    Wenjia Wang
    Linyi Xie
    Fen Xiong
    Wei Shi
    Lijian Zhao
    Dayong Wang
    Ye Yin
    Qiuju Wang
    Human Genetics, 2024, 143 : 293 - 309