BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

195 related articles for article (PubMed ID: 30593198)

  • 1. Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.
    Galli J; Gavazzi F; De Simone M; Giliani S; Garau J; Valente M; Vairo D; Cattalini M; Mortilla M; Andreoli L; Badolato R; Bianchi M; Carabellese N; Cereda C; Ferraro R; Facchetti F; Fredi M; Gualdi G; Lorenzi L; Meini A; Orcesi S; Tincani A; Zanola A; Rice G; Fazzi E;
    Medicine (Baltimore); 2018 Dec; 97(52):e13893. PubMed ID: 30593198
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.
    Lu M; Zhu K; Zheng Q; Ma X; Zou L
    Am J Med Genet A; 2021 Oct; 185(10):3146-3152. PubMed ID: 34189822
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?
    Svingen L; Goheen M; Godfrey R; Wahl C; Baker EH; Gahl WA; Malicdan MCV; Toro C
    Dev Med Child Neurol; 2017 Dec; 59(12):1307-1311. PubMed ID: 28762473
    [TBL] [Abstract][Full Text] [Related]  

  • 4. PNPT1 mutations may cause Aicardi-Goutières-Syndrome.
    Bamborschke D; Kreutzer M; Koy A; Koerber F; Lucas N; Huenseler C; Herkenrath P; Lee-Kirsch MA; Cirak S
    Brain Dev; 2021 Feb; 43(2):320-324. PubMed ID: 33158637
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications.
    Tonduti D; Izzo G; D'Arrigo S; Riva D; Moroni I; Zorzi G; Cavallera V; Pichiecchio A; Uggetti C; Veggiotti P; Orcesi S; Chiapparini L; Parazzini C
    Mol Genet Metab; 2019 Apr; 126(4):489-494. PubMed ID: 30826161
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.
    Piccoli C; Bronner N; Gavazzi F; Dubbs H; De Simone M; De Giorgis V; Orcesi S; Fazzi E; Galli J; Masnada S; Tonduti D; Varesio C; Vanderver A; Vossough A; Adang L
    Pediatr Neurol; 2021 Feb; 115():1-6. PubMed ID: 33307271
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Interstitial Lung Disease and Psoriasis in a Child With Aicardi-Goutières Syndrome.
    Zheng S; Lee PY; Wang J; Wang S; Huang Q; Huang Y; Liu Y; Zhou Q; Li T
    Front Immunol; 2020; 11():985. PubMed ID: 32508843
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Aicardi-Goutières syndrome: A monogenic type I interferonopathy.
    Liu A; Ying S
    Scand J Immunol; 2023 Oct; 98(4):e13314. PubMed ID: 37515439
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).
    La Piana R; Uggetti C; Olivieri I; Tonduti D; Balottin U; Fazzi E; Orcesi S
    Am J Med Genet A; 2014 Mar; 164A(3):815-9. PubMed ID: 24376015
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
    Armangue T; Orsini JJ; Takanohashi A; Gavazzi F; Conant A; Ulrick N; Morrissey MA; Nahhas N; Helman G; Gordish-Dressman H; Orcesi S; Tonduti D; Stutterd C; van Haren K; Toro C; Iglesias AD; van der Knaap MS; Goldbach Mansky R; Moser AB; Jones RO; Vanderver A
    Mol Genet Metab; 2017 Nov; 122(3):134-139. PubMed ID: 28739201
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Aicardi-Goutières syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain.
    Guo X; Wiley CA; Steinman RA; Sheng Y; Ji B; Wang J; Zhang L; Wang T; Zenatai M; Billiar TR; Wang Q
    J Neuroinflammation; 2021 Jul; 18(1):169. PubMed ID: 34332594
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neuropathological Findings in a Case of
    Gilani A; Adang LA; Vanderver A; Collins A; Kleinschmidt-DeMasters BK
    Pediatr Dev Pathol; 2019; 22(6):566-570. PubMed ID: 30952201
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.
    Schmelzer L; Smitka M; Wolf C; Lucas N; Tüngler V; Hahn G; Tzschach A; Di Donato N; Lee-Kirsch MA; von der Hagen M
    Eur J Paediatr Neurol; 2018 Jan; 22(1):186-189. PubMed ID: 29221912
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
    Rice GI; Forte GM; Szynkiewicz M; Chase DS; Aeby A; Abdel-Hamid MS; Ackroyd S; Allcock R; Bailey KM; Balottin U; Barnerias C; Bernard G; Bodemer C; Botella MP; Cereda C; Chandler KE; Dabydeen L; Dale RC; De Laet C; De Goede CG; Del Toro M; Effat L; Enamorado NN; Fazzi E; Gener B; Haldre M; Lin JP; Livingston JH; Lourenco CM; Marques W; Oades P; Peterson P; Rasmussen M; Roubertie A; Schmidt JL; Shalev SA; Simon R; Spiegel R; Swoboda KJ; Temtamy SA; Vassallo G; Vilain CN; Vogt J; Wermenbol V; Whitehouse WP; Soler D; Olivieri I; Orcesi S; Aglan MS; Zaki MS; Abdel-Salam GM; Vanderver A; Kisand K; Rozenberg F; Lebon P; Crow YJ
    Lancet Neurol; 2013 Dec; 12(12):1159-69. PubMed ID: 24183309
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.
    Tonduti D; Orcesi S; Jenkinson EM; Dorboz I; Renaldo F; Panteghini C; Rice GI; Henneke M; Livingston JH; Elmaleh M; Burglen L; Willemsen MA; Chiapparini L; Garavaglia B; Rodriguez D; Boespflug-Tanguy O; Moroni I; Crow YJ
    Eur J Paediatr Neurol; 2016 Jul; 20(4):604-10. PubMed ID: 27091087
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
    Crow YJ; Chase DS; Lowenstein Schmidt J; 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 Villemeur T; 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 C; Cordeiro NJ; Crichiutti G; Dabydeen L; Dale RC; D'Arrigo S; De Goede CG; De Laet C; De Waele LM; Denzler I; Desguerre I; Devriendt K; Di Rocco M; Fahey MC; Fazzi E; Ferrie CD; Figueiredo A; Gener B; Goizet C; Gowrinathan NR; Gowrishankar K; Hanrahan D; Isidor B; Kara B; Khan N; King MD; Kirk EP; Kumar R; Lagae L; Landrieu P; Lauffer H; Laugel V; La Piana R; Lim MJ; Lin JP; Linnankivi T; Mackay MT; Marom DR; Marques Lourenço C; 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 Naude J; Wee Teik K; Thomas MM; Till M; Tonduti D; Valente EM; Van Coster RN; van der Knaap MS; 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
    Am J Med Genet A; 2015 Feb; 167A(2):296-312. PubMed ID: 25604658
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome.
    Wang BX; Grover SA; Kannu P; Yoon G; Laxer RM; Yeh EA; Fish EN
    J Interferon Cytokine Res; 2017 Apr; 37(4):147-152. PubMed ID: 28387595
    [TBL] [Abstract][Full Text] [Related]  

  • 18. RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant.
    Kameli R; Amanat M; Rezaei Z; Hosseionpour S; Nikbakht S; Alizadeh H; Ashrafi MR; Omrani A; Garshasbi M; Tavasoli AR
    Orphanet J Rare Dis; 2019 Jul; 14(1):184. PubMed ID: 31349848
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].
    Ji T; Wang J; Li H; Zhao L; Sang Y; Wu Y
    Zhonghua Er Ke Za Zhi; 2014 Nov; 52(11):822-7. PubMed ID: 25582466
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Child Neurology: Aicardi-Goutières Syndrome Presenting as Recurrent Ischemic Stroke.
    Kuang SY; Li Y; Yang SL; Han X
    Neurology; 2022 Aug; 99(9):393-398. PubMed ID: 35803721
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.