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.
207 related articles for article (PubMed ID: 26927810)
21. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Ebrahimi-Fakhari D; Saffari A; Wahlster L; Lu J; Byrne S; Hoffmann GF; Jungbluth H; Sahin M Brain; 2016 Feb; 139(Pt 2):317-37. PubMed ID: 26715604 [TBL] [Abstract][Full Text] [Related]
22. Vici Syndrome with a Novel Mutation in EPG5. Moirangthem A; Mandal K; Ghosh A; Phadke SR Indian Pediatr; 2019 Jul; 56(7):603-605. PubMed ID: 31333218 [TBL] [Abstract][Full Text] [Related]
23. Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. McClelland V; Cullup T; Bodi I; Ruddy D; Buj-Bello A; Biancalana V; Boehm J; Bitoun M; Miller O; Jan W; Menson E; Amaya L; Trounce J; Laporte J; Mohammed S; Sewry C; Raiman J; Jungbluth H Am J Med Genet A; 2010 Mar; 152A(3):741-7. PubMed ID: 20186778 [TBL] [Abstract][Full Text] [Related]
25. The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. Piano Mortari E; Folgiero V; Marcellini V; Romania P; Bellacchio E; D'Alicandro V; Bocci C; Carrozzo R; Martinelli D; Petrini S; Axiotis E; Farroni C; Locatelli F; Schara U; Pilz DT; Jungbluth H; Dionisi-Vici C; Carsetti R Autophagy; 2018; 14(1):22-37. PubMed ID: 29130391 [TBL] [Abstract][Full Text] [Related]
26. Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy. Said E; Soler D; Sewry C Am J Med Genet A; 2012 Feb; 158A(2):440-4. PubMed ID: 21964879 [TBL] [Abstract][Full Text] [Related]
27. Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the Selamioğlu A; Doğan BY; Balcı MC; Kalaycı T; Karaca M; Ak B; Durmuş A; Körbeyli HK; Gökçay G Mol Syndromol; 2024 Jun; 15(3):257-268. PubMed ID: 38841323 [TBL] [Abstract][Full Text] [Related]
28. Mice deficient in the Vici syndrome gene Epg5 exhibit features of retinitis pigmentosa. Miao G; Zhao YG; Zhao H; Ji C; Sun H; Chen Y; Zhang H Autophagy; 2016 Dec; 12(12):2263-2270. PubMed ID: 27715390 [TBL] [Abstract][Full Text] [Related]
29. Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome. Kane MS; Vilboux T; Wolfe LA; Lee PR; Wang Y; Huddleston KC; Vockley JG; Niederhuber JE; Solomon BD Brain; 2016 Sep; 139(Pt 9):e52. PubMed ID: 27343256 [No Abstract] [Full Text] [Related]
30. A Saudi Infant with Vici Syndrome: Case Report and Literature Review. Alzahrani A; Alghamdi AA; Waggass R Open Access Maced J Med Sci; 2018 Jun; 6(6):1081-1084. PubMed ID: 29983806 [TBL] [Abstract][Full Text] [Related]
31. A rare mutation in the EPG5 gene causes Vici syndrome. Demiral E; Sen A; Esener Z; Ceylaner S; Tekedereli I Clin Dysmorphol; 2018 Oct; 27(4):145-147. PubMed ID: 29944490 [No Abstract] [Full Text] [Related]
32. An induced pluripotent stem cell line (CIMRi001-A) from a Vici syndrome donor with a homozygous recessive c.1007A>G (p.Q336R) mutation in the EPG5 gene. Mitchell MW; Grandizio C; Turan N; Requesens DV Stem Cell Res; 2022 Aug; 63():102833. PubMed ID: 35700637 [TBL] [Abstract][Full Text] [Related]
33. Vici syndrome in Israel: Clinical and molecular insights. Chorin O; Hirsch Y; Rock R; Salzer Sheelo L; Goldberg Y; Mandel H; Hershkovitz T; Fleischer N; Greenbaum L; Katz U; Barel O; Hamed N; Ben-Zeev B; Greenberger S; Nasser Samra N; Stern Zimmer M; Raas-Rothschild A; Pode-Shakked B Front Genet; 2022; 13():991721. PubMed ID: 36204321 [No Abstract] [Full Text] [Related]
34. Immunodeficiency in Vici syndrome: a heterogeneous phenotype. Finocchi A; Angelino G; Cantarutti N; Corbari M; Bevivino E; Cascioli S; Randisi F; Bertini E; Dionisi-Vici C Am J Med Genet A; 2012 Feb; 158A(2):434-9. PubMed ID: 21965116 [TBL] [Abstract][Full Text] [Related]
35. Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome. Byrne S; Cullup T; Fanto M; Gautel M; Jungbluth H Brain; 2016 Sep; 139(Pt 9):e53. PubMed ID: 27343258 [No Abstract] [Full Text] [Related]
36. EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome. Vojcek E; Keszthelyi TM; Jávorszky E; Balogh L; Tory K Ann Hum Genet; 2020 Jan; 84(1):80-86. PubMed ID: 31184778 [TBL] [Abstract][Full Text] [Related]
37. Vici syndrome in siblings born to consanguineous parents. Tasdemir S; Sahin I; Cayır A; Yuce I; Ceylaner S; Tatar A Am J Med Genet A; 2016 Jan; 170A(1):220-5. PubMed ID: 26395118 [TBL] [Abstract][Full Text] [Related]
38. Ophthalmologic features of Vici syndrome. Filloux FM; Hoffman RO; Viskochil DH; Jungbluth H; Creel DJ J Pediatr Ophthalmol Strabismus; 2014 Jul; 51(4):214-20. PubMed ID: 24779424 [TBL] [Abstract][Full Text] [Related]
39. Vici syndrome associated with sensorineural hearing loss and laryngomalacia. Ozkale M; Erol I; Gümüş A; Ozkale Y; Alehan F Pediatr Neurol; 2012 Nov; 47(5):375-8. PubMed ID: 23044023 [TBL] [Abstract][Full Text] [Related]
40. Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. Chiyonobu T; Yoshihara T; Fukushima Y; Yamamoto Y; Tsunamoto K; Nishimura Y; Ishida H; Toda T; Kasubuchi Y Am J Med Genet; 2002 Apr; 109(1):61-6. PubMed ID: 11932994 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]