BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

253 related articles for article (PubMed ID: 26860721)

  • 1. [Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases].
    Ortiz-Madinaveitia S; Conejo-Moreno D; López-Pisón J; Peña-Segura JL; Serrano-Madrid ML; Durán-Palacios IC; Peláez-Cabo P
    Rev Neurol; 2016 Feb; 62(4):165-9. PubMed ID: 26860721
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.
    Al Mutairi F; Alfadhel M; Nashabat M; El-Hattab AW; Ben-Omran T; Hertecant J; Eyaid W; Ali R; Alasmari A; Kara M; Al-Twaijri W; Filimban R; Alshenqiti A; Al-Owain M; Faqeih E; Alkuraya FS
    Pediatr Neurol; 2018 Jan; 78():35-40. PubMed ID: 29239743
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. [Aicardi-Goutieres syndrome: a family case due to alteration of the RNASEH2B gene].
    Viguera-Elías D; de la Iglesia-Nagore I; Toledo-Gotor C; Domínguez-Garrido E; Poch-Olivé ML
    Rev Neurol; 2021 Jun; 72(11):407-409. PubMed ID: 34042169
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Chronic Encephalopathy, Startle, and Intracranial Calcification: Think Beyond Intrauterine Infections.
    Saini AG; Gonda V; Bhatia V
    Pediatr Neurol; 2019 Aug; 97():78-79. PubMed ID: 30922773
    [No Abstract]   [Full Text] [Related]  

  • 8. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
    Ramantani G; Kohlhase J; Hertzberg C; Innes AM; Engel K; Hunger S; Borozdin W; Mah JK; Ungerath K; Walkenhorst H; Richardt HH; Buckard J; Bevot A; Siegel C; von Stülpnagel C; Ikonomidou C; Thomas K; Proud V; Niemann F; Wieczorek D; Häusler M; Niggemann P; Baltaci V; Conrad K; Lebon P; Lee-Kirsch MA
    Arthritis Rheum; 2010 May; 62(5):1469-77. PubMed ID: 20131292
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.
    Straussberg R; Marom D; Sanado-Inbar E; Lakovsky Y; Horev G; Shalev SA; Lev D; Lerman-Sagie T; Leshinsky-Silver E
    J Child Neurol; 2015 Mar; 30(4):490-5. PubMed ID: 25246298
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect.
    He T; Xia Y; Yang J
    Pediatr Rheumatol Online J; 2021 Jan; 19(1):9. PubMed ID: 33482855
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.
    Ostergaard E; Joensen F; Sundberg K; Duno M; Hansen FJ; Batbayli M; Sørensen N; Born AP
    Acta Paediatr; 2012 Nov; 101(11):e509-13. PubMed ID: 22882256
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Case Report: Novel Compound Heterozygous
    Garau J; Masnada S; Dragoni F; Sproviero D; Fogolari F; Gagliardi S; Izzo G; Varesio C; Orcesi S; Veggiotti P; Zuccotti GV; Pansarasa O; Tonduti D; Cereda C
    Front Immunol; 2021; 12():672952. PubMed ID: 33981319
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Aicardi-Goutières syndrome (AGS).
    Stephenson JB
    Eur J Paediatr Neurol; 2008 Sep; 12(5):355-8. PubMed ID: 18343173
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
    Rice GI; Reijns MA; Coffin SR; Forte GM; Anderson BH; Szynkiewicz M; Gornall H; Gent D; Leitch A; Botella MP; Fazzi E; Gener B; Lagae L; Olivieri I; Orcesi S; Swoboda KJ; Perrino FW; Jackson AP; Crow YJ
    Hum Mutat; 2013 Aug; 34(8):1066-70. PubMed ID: 23592335
    [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. 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]  

    [Next]    [New Search]
    of 13.