These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

209 related articles for article (PubMed ID: 27658362)

  • 1. [Aicardi-Goutieres syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report].
    Florido-Rodriguez A; Eiris-Punal J; Barros-Angueira F; Toledo-Bravo de Laguna L; Santana-Artiles A; Sebastian-Garcia I; Santana-Rodriguez A; Cabrera-Lopez JC
    Rev Neurol; 2016 Oct; 63(7):309-14. PubMed ID: 27658362
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation.
    Železnik M; Vesnaver TV; Neubauer D; Soltirovska-Šalamon A
    Neuropediatrics; 2024 Oct; 55(5):337-340. PubMed ID: 38714209
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features.
    Sugawara Y; Imai K; Kashimada A; Moriyama K; Baba S; Nishikomori R; Motegi M; Takeuchi Y; Morio T
    J Allergy Clin Immunol; 2018 Mar; 141(3):1135-1138. PubMed ID: 29132962
    [No Abstract]   [Full Text] [Related]  

  • 12. Chronic exposure of astrocytes to interferon-α reveals molecular changes related to Aicardi-Goutieres syndrome.
    Cuadrado E; Jansen MH; Anink J; De Filippis L; Vescovi AL; Watts C; Aronica E; Hol EM; Kuijpers TW
    Brain; 2013 Jan; 136(Pt 1):245-58. PubMed ID: 23365100
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.
    Diamond J
    Clin Genet; 2014 Nov; 86(5):473-4. PubMed ID: 25080300
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.
    Izzotti A; Longobardi M; Cartiglia C; Anzuini F; Arrigo P; Fazzi E; Orcesi S; Piana RL; Pulliero A
    J Child Neurol; 2012 Jan; 27(1):51-60. PubMed ID: 21862834
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Computational Insights into the Structural Dynamics of MDA5 Variants Associated with Aicardi-Goutières Syndrome and Singleton-Merten Syndrome.
    Gosu V; Sasidharan S; Saudagar P; Lee HK; Shin D
    Biomolecules; 2021 Aug; 11(8):. PubMed ID: 34439917
    [TBL] [Abstract][Full Text] [Related]  

  • 20. MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.
    Buers I; Rice GI; Crow YJ; Rutsch F
    J Interferon Cytokine Res; 2017 May; 37(5):214-219. PubMed ID: 28475458
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.