BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

253 related articles for article (PubMed ID: 32508843)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.
    Musalem HM; Dirar QS; Al-Hazzaa SAF; Al Zoba AA; El-Mansoury J
    Am J Case Rep; 2018 Apr; 19():500-504. PubMed ID: 29703882
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Aicardi goutières syndrome is associated with pulmonary hypertension.
    Adang LA; Frank DB; Gilani A; Takanohashi A; Ulrick N; Collins A; Cross Z; Galambos C; Helman G; Kanaan U; Keller S; Simon D; Sherbini O; Hanna BD; Vanderver AL
    Mol Genet Metab; 2018 Dec; 125(4):351-358. PubMed ID: 30219631
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.
    Bursztejn AC; Briggs TA; del Toro Duany Y; Anderson BH; O'Sullivan J; Williams SG; Bodemer C; Fraitag S; Gebhard F; Leheup B; Lemelle I; Oojageer A; Raffo E; Schmitt E; Rice GI; Hur S; Crow YJ
    Br J Dermatol; 2015 Dec; 173(6):1505-13. PubMed ID: 26284909
    [TBL] [Abstract][Full Text] [Related]  

  • 10. An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
    Amari S; Tsukamoto K; Ishiguro A; Yanagi K; Kaname T; Ito Y
    Eur J Med Genet; 2020 Feb; 63(2):103646. PubMed ID: 30965144
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.
    Masneri S; Lanzi G; Ferraro RM; Barisani C; Piovani G; Savio G; Cattalini M; Galli J; Cereda C; Muzi-Falconi M; Orcesi S; Fazzi E; Giliani S
    Stem Cell Res; 2019 Dec; 41():101623. PubMed ID: 31698194
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Aicardi-Goutières syndrome is caused by IFIH1 mutations.
    Oda H; Nakagawa K; Abe J; Awaya T; Funabiki M; Hijikata A; Nishikomori R; Funatsuka M; Ohshima Y; Sugawara Y; Yasumi T; Kato H; Shirai T; Ohara O; Fujita T; Heike T
    Am J Hum Genet; 2014 Jul; 95(1):121-5. PubMed ID: 24995871
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Tocilizumab reduces the unmanageable inflammatory reaction of a patient with Aicardi-Goutières syndrome type 7 during treatment with ruxolitinib.
    Wang W; Wang W; Peng S; Gao S; Quan M; Gou L; Wang C; Sun Z; Li Z; Lian D; Song H
    Pediatr Rheumatol Online J; 2023 Oct; 21(1):117. PubMed ID: 37828538
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neuromyelitis optica in a child with Aicardi-Goutières syndrome.
    Hacohen Y; Zuberi S; Vincent A; Crow YJ; Cordeiro N
    Neurology; 2015 Jul; 85(4):381-3. PubMed ID: 26136517
    [No Abstract]   [Full Text] [Related]  

  • 15. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
    Rice GI; Park S; Gavazzi F; Adang LA; Ayuk LA; Van Eyck L; Seabra L; Barrea C; Battini R; Belot A; Berg S; Billette de Villemeur T; Bley AE; Blumkin L; Boespflug-Tanguy O; Briggs TA; Brimble E; Dale RC; Darin N; Debray FG; De Giorgis V; Denecke J; Doummar D; Drake Af Hagelsrum G; Eleftheriou D; Estienne M; Fazzi E; Feillet F; Galli J; Hartog N; Harvengt J; Heron B; Heron D; Kelly DA; Lev D; Levrat V; Livingston JH; Marti I; Mignot C; Mochel F; Nougues MC; Oppermann I; Pérez-Dueñas B; Popp B; Rodero MP; Rodriguez D; Saletti V; Sharpe C; Tonduti D; Vadlamani G; Van Haren K; Tomas Vila M; Vogt J; Wassmer E; Wiedemann A; Wilson CJ; Zerem A; Zweier C; Zuberi SM; Orcesi S; Vanderver AL; Hur S; Crow YJ
    Hum Mutat; 2020 Apr; 41(4):837-849. PubMed ID: 31898846
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.
    Livingston JH; Crow YJ
    Neuropediatrics; 2016 Dec; 47(6):355-360. PubMed ID: 27643693
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.
    Ramantani G; Häusler M; Niggemann P; Wessling B; Guttmann H; Mull M; Tenbrock K; Lee-Kirsch MA
    J Child Neurol; 2011 Nov; 26(11):1425-8. PubMed ID: 21670392
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
    Marguet F; Laquerrière A; Goldenberg A; Guerrot AM; Quenez O; Flahaut P; Vanhulle C; Dumant-Forest C; Charbonnier F; Vezain M; Bekri S; Tournier I; Frébourg T; Nicolas G
    Am J Med Genet A; 2016 May; 170A(5):1317-24. PubMed ID: 26833990
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.