300 related articles for article (PubMed ID: 29703882)
1. 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]
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. 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]
5. 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]
6. 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]
7. 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]
8. [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]
9. A novel CYP1B1 mutation with congenital glaucoma and total aniridia.
Alzuhairy S; Abu-Amero KK; Al-Shahwan S; Edward DP
Ophthalmic Genet; 2015 Mar; 36(1):89-91. PubMed ID: 24001018
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.
Abdel-Salam GMH; Abdel-Hamid MS; Mohammad SA; Abdel-Ghafar SF; Soliman DR; El-Bassyouni HT; Effat L; Zaki MS
Metab Brain Dis; 2017 Jun; 32(3):679-683. PubMed ID: 28332073
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Astrocytes, an active player in Aicardi-Goutières syndrome.
Sase S; Takanohashi A; Vanderver A; Almad A
Brain Pathol; 2018 May; 28(3):399-407. PubMed ID: 29740948
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
