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10. Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c. Cao X; Lenk GM; Meisler MH G3 (Bethesda); 2023 Aug; 13(8):. PubMed ID: 36691351 [TBL] [Abstract][Full Text] [Related]
11. CMT4J, parkinsonism and a new FIG4 mutation. Posada IJ; Domínguez-González C Parkinsonism Relat Disord; 2020 Dec; 81():82-83. PubMed ID: 33096303 [No Abstract] [Full Text] [Related]
12. Yunis-varon syndrome: further delineation of cardiovascular and endocrine outcome. Varghese P; Collins N; Warner G; Leitch J; Ho E; Crock P Am J Med Genet A; 2014 May; 164A(5):1213-7. PubMed ID: 24610892 [TBL] [Abstract][Full Text] [Related]
13. [Yunis-Varon syndrome: a case report]. Elizondo-Dueñaz R; Rivera-Silva G; Marcos Abdala H; López-Altamirano M; Martínez-Menchaca HR Gac Med Mex; 2012; 148(1):81-2. PubMed ID: 22367312 [TBL] [Abstract][Full Text] [Related]
14. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. Nicholson G; Lenk GM; Reddel SW; Grant AE; Towne CF; Ferguson CJ; Simpson E; Scheuerle A; Yasick M; Hoffman S; Blouin R; Brandt C; Coppola G; Biesecker LG; Batish SD; Meisler MH Brain; 2011 Jul; 134(Pt 7):1959-71. PubMed ID: 21705420 [TBL] [Abstract][Full Text] [Related]
15. FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. Osmanovic A; Rangnau I; Kosfeld A; Abdulla S; Janssen C; Auber B; Raab P; Preller M; Petri S; Weber RG Eur J Hum Genet; 2017 Feb; 25(3):324-331. PubMed ID: 28051077 [TBL] [Abstract][Full Text] [Related]
16. New ocular findings in two sisters with Yunis-Varón syndrome and literature review. Corona-Rivera JR; Romo-Huerta CO; López-Marure E; Ramos FJ; Estrada-Padilla SA; Zepeda-Romero LC Eur J Med Genet; 2011; 54(1):76-81. PubMed ID: 20932945 [TBL] [Abstract][Full Text] [Related]
17. Yunis-Varon Syndrome. Siddique AW; Ahmed Z; Haider A; Khalid H; Karim T J Ayub Med Coll Abbottabad; 2019; 31(2):290-292. PubMed ID: 31094135 [TBL] [Abstract][Full Text] [Related]
18. Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders. Kaur P; Bhavani GS; Raj A; Girisha KM; Shukla A J Hum Genet; 2019 Dec; 64(12):1237-1242. PubMed ID: 31591492 [TBL] [Abstract][Full Text] [Related]
19. Cerebral hypomyelination associated with biallelic variants of FIG4. Lenk GM; Berry IR; Stutterd CA; Blyth M; Green L; Vadlamani G; Warren D; Craven I; Fanjul-Fernandez M; Rodriguez-Casero V; Lockhart PJ; Vanderver A; Simons C; Gibb S; Sadedin S; ; White SM; Christodoulou J; Skibina O; Ruddle J; Tan TY; Leventer RJ; Livingston JH; Meisler MH Hum Mutat; 2019 May; 40(5):619-630. PubMed ID: 30740813 [TBL] [Abstract][Full Text] [Related]