BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

234 related articles for article (PubMed ID: 29221912)

  • 1. 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]  

  • 2. 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]  

  • 3. Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.
    Jones HF; Stoll M; Ho G; O'Neill D; Han VX; Paget S; Stewart K; Lewis J; Kothur K; Troedson C; Crow YJ; Dale RC; Mohammad SS
    Brain Dev; 2022 Feb; 44(2):153-160. PubMed ID: 34702576
    [TBL] [Abstract][Full Text] [Related]  

  • 4.
    van Toorn R; van Niekerk M; Moosa S; Goussard P; Solomons R
    BMJ Case Rep; 2023 Mar; 16(3):. PubMed ID: 36914176
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
    de Barcelos IP; Woidill S; Gavazzi F; Modesti NB; Sevagamoorthy A; Vanderver A; Adang L
    Mol Genet Metab; 2024 May; 142(1):108346. PubMed ID: 38368708
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Co-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India.
    Sathishkumar D; Muthusamy K; Gupta A; Malhotra M; Thomas M; Koshy B; Jasper A; Danda S; George R
    Clin Exp Dermatol; 2021 Jun; 46(4):704-709. PubMed ID: 33289110
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cardiac valve involvement in
    Crow Y; Keshavan N; Barbet JP; Bercu G; Bondet V; Boussard C; Dedieu N; Duffy D; Hully M; Giardini A; Gitiaux C; Rice GI; Seabra L; Bader-Meunier B; Rahman S
    J Med Genet; 2020 Jul; 57(7):475-478. PubMed ID: 31772029
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Developmental Outcomes of Aicardi Goutières Syndrome.
    Adang L; Gavazzi F; De Simone M; Fazzi E; Galli J; Koh J; Kramer-Golinkoff J; De Giorgis V; Orcesi S; Peer K; Ulrick N; Woidill S; Shults J; Vanderver A
    J Child Neurol; 2020 Jan; 35(1):7-16. PubMed ID: 31559893
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Dyschromatosis symmetrica hereditaria: A clue to early diagnosis of Aicardi-Goutières syndrome.
    Ahmed F; Do N; Vanderver AL; Treat JR
    Pediatr Dermatol; 2024; 41(1):156-157. PubMed ID: 37770123
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 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. Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.
    Kono M; Matsumoto F; Suzuki Y; Suganuma M; Saitsu H; Ito Y; Fujiwara S; Moriwaki S; Matsumoto K; Matsumoto N; Tomita Y; Sugiura K; Akiyama M
    J Invest Dermatol; 2016 Apr; 136(4):875-878. PubMed ID: 26802932
    [No Abstract]   [Full Text] [Related]  

  • 16. The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.
    Yarbrough K; Danko C; Krol A; Zonana J; Leitenberger S
    Am J Med Genet A; 2016 Dec; 170(12):3308-3312. PubMed ID: 27604406
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.
    Vogt J; Agrawal S; Ibrahim Z; Southwood TR; Philip S; Macpherson L; Bhole MV; Crow YJ; Oley C
    Am J Med Genet A; 2013 Feb; 161A(2):338-42. PubMed ID: 23322642
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.
    Kasher PR; Jenkinson EM; Briolat V; Gent D; Morrissey C; Zeef LA; Rice GI; Levraud JP; Crow YJ
    J Immunol; 2015 Mar; 194(6):2819-25. PubMed ID: 25672750
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
    Rice GI; Kitabayashi N; Barth M; Briggs TA; Burton ACE; Carpanelli ML; Cerisola AM; Colson C; Dale RC; Danti FR; Darin N; De Azua B; De Giorgis V; De Goede CGL; Desguerre I; De Laet C; Eslahi A; Fahey MC; Fallon P; Fay A; Fazzi E; Gorman MP; Gowrinathan NR; Hully M; Kurian MA; Leboucq N; Lin JS; Lines MA; Mar SS; Maroofian R; Martí-Sanchez L; McCullagh G; Mojarrad M; Narayanan V; Orcesi S; Ortigoza-Escobar JD; Pérez-Dueñas B; Petit F; Ramsey KM; Rasmussen M; Rivier F; Rodríguez-Pombo P; Roubertie A; Stödberg TI; Toosi MB; Toutain A; Uettwiller F; Ulrick N; Vanderver A; Waldman A; Livingston JH; Crow YJ
    Neuropediatrics; 2017 Jun; 48(3):166-184. PubMed ID: 28561207
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.