Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow, YJ; Chase, DS; Lowenstein, Schmidt; Szynkiewicz, M; Forte, GM; Gornall, HL; Oojageer, A; Anderson, B; Pizzino, A; Helman, G; Abdel-Hamid, MS; Abdel-Salam, GM; Ackroyd, S; Aeby, A; Agosta, G; Albin, C; Allon-Shalev, S; Arellano, M; Ariaudo, G; Aswani, V; Babul-Hirji, R; Baildam, EM; Bahi-Buisson, N; Bailey, KM; Barnerias, C; Barth, M; Battini, R; Beresford, MW; Bernard, G; Bianchi, M; Billette, de; Blair, EM; Bloom, M; Burlina, AB; Carpanelli, ML; Carvalho, DR; Castro-Gago, M; Cavallini, A; Cereda, C; Chandler, KE; Chitayat, DA; Collins, AE; Sierra, Corcoles; Cordeiro, NJ; Crichiutti, G; Dabydeen, L; Dale, RC; D'Arrigo, S; De, Goede; De, Laet; De, Waele; Denzler, I; Desguerre, I; Devriendt, K; Di, Rocco; Fahey, MC; Fazzi, E; Ferrie, CD; Figueiredo, A; Gener, B; Goizet, C; Gowrinathan, NR; Gowrishankar, K; Hanrahan, D; Isidor, B; Kara, BÜLENT; Khan, N; King, MD; Kirk, EP; Kumar, R; Lagae, L; Landrieu, P; Lauffer, H; Laugel, V; La, Piana; Lim, MJ; Lin, JP; Linnankivi, T; Mackay, MT; Marom, DR; Marques, Lourenço; McKee, SA; Moroni, I; Morton, JE; Moutard, ML; Murray, K; Nabbout, R; Nampoothiri, S; Nunez-Enamorado, N; Oades, PJ; Olivieri, I; Ostergaard, JR; Pérez-Dueñas, B; Prendiville, JS; Ramesh, V; Rasmussen, M; Régal, L; Ricci, F; Rio, M; Rodriguez, D; Roubertie, A; Salvatici, E; Segers, KA; Sinha, GP; Soler, D; Spiegel, R; Stödberg, TI; Straussberg, R; Swoboda, KJ; Suri, M; Tacke, U; Tan, TY; te, Water; Wee, Teik; Thomas, MM; Till, M; Tonduti, D; Valente, EM; Van, Coster; van, der; Vassallo, G; Vijzelaar, R; Vogt, J; Wallace, GB; Wassmer, E; Webb, HJ; Whitehouse, WP; Whitney, RN; Zaki, MS; Zuberi, SM; Livingston, JH; Rozenberg, F; Lebon, P; Vanderver, A; Orcesi, S; Rice, GI

doi:10.1002/ajmg.a.36887

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow Y., Chase D., Lowenstein S., Szynkiewicz M., Forte G., Gornall H., ...More

American journal of medical genetics. Part A, pp.296-312, 2015 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume:
Publication Date: 2015
Doi Number: 10.1002/ajmg.a.36887
Journal Name: American journal of medical genetics. Part A
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.296-312
Keywords: Aicardi-Goutieres syndrome, bilateral striatal necrosis, spastic paraparesis, type I interferon, interferon signature, AICARDI-GOUTIERES-SYNDROME, SYSTEMIC-LUPUS-ERYTHEMATOSUS, DNA EXONUCLEASE TREX1, CLASSIFICATION-SYSTEM, INTERFERON-ALPHA, BASAL GANGLIA, GENE, ENCEPHALOPATHY, CALCIFICATIONS, VASCULOPATHY
Kocaeli University Affiliated: Yes