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8. RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection. Ulrick N; Goldstein A; Simons C; Taft RJ; Helman G; Pizzino A; Bloom M; Vogt J; Pysden K; Diodato D; Martinelli D; Monavari A; Buhas D; van Karnebeek CD; Dorboz I; Boespflug-Tanguy O; Rodriguez D; Tétreault M; Majewski J; Bernard G; Ng YS; ; McFarland R; Vanderver A Pediatr Neurol; 2017 Jan; 66():59-62. PubMed ID: 27843092 [TBL] [Abstract][Full Text] [Related]
9. Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects. Gaboon NEA; Banaganapalli B; Nasser K; Razeeth M; Alsaedi MS; Rashidi OM; Abdelwehab LS; Alahmadi TS; Safdar OY; Shaik J; Choudhry HMZ; Al-Numan HH; Khan MI; Al-Aama JY; Elango R; Shaik NA Saudi J Biol Sci; 2020 Jan; 27(1):324-334. PubMed ID: 31889854 [TBL] [Abstract][Full Text] [Related]
10. Hearing impairment and renal failure associated with RMND1 mutations. Ravn K; Neland M; Wibrand F; Duno M; Ostergaard E Am J Med Genet A; 2016 Jan; 170A(1):142-7. PubMed ID: 26395190 [TBL] [Abstract][Full Text] [Related]
11. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. Taylor RW; Pyle A; Griffin H; Blakely EL; Duff J; He L; Smertenko T; Alston CL; Neeve VC; Best A; Yarham JW; Kirschner J; Schara U; Talim B; Topaloglu H; Baric I; Holinski-Feder E; Abicht A; Czermin B; Kleinle S; Morris AA; Vassallo G; Gorman GS; Ramesh V; Turnbull DM; Santibanez-Koref M; McFarland R; Horvath R; Chinnery PF JAMA; 2014 Jul; 312(1):68-77. PubMed ID: 25058219 [TBL] [Abstract][Full Text] [Related]
13. Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? Casey JP; Crushell E; Thompson K; Twomey E; He L; Ennis S; Philip RK; Taylor RW; King MD; Lynch SA JIMD Rep; 2016; 26():13-9. PubMed ID: 26238252 [TBL] [Abstract][Full Text] [Related]
14. The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications. Rioux AV; Bergeron NA; Riopel J; Marcoux N; Thériault C; Gould PV; Garneau AP; Isenring P J Mol Med (Berl); 2023 Oct; 101(10):1229-1236. PubMed ID: 37584739 [TBL] [Abstract][Full Text] [Related]
15. RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making. Broenen E; Ranchin B; Besmond C; Freychet C; Fouilhoux A; Perouse de Montclos T; Ville D; Bacchetta J Arch Pediatr; 2019 Sep; 26(6):377-380. PubMed ID: 31506229 [TBL] [Abstract][Full Text] [Related]
16. Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene. Vinu N; Puri RD; Anand K; Verma IC Indian J Pediatr; 2018 Feb; 85(2):87-92. PubMed ID: 29071585 [TBL] [Abstract][Full Text] [Related]
17. Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Menezes MJ; Guo Y; Zhang J; Riley LG; Cooper ST; Thorburn DR; Li J; Dong D; Li Z; Glessner J; Davis RL; Sue CM; Alexander SI; Arbuckle S; Kirwan P; Keating BJ; Xu X; Hakonarson H; Christodoulou J Hum Mol Genet; 2015 Apr; 24(8):2297-307. PubMed ID: 25556185 [TBL] [Abstract][Full Text] [Related]
18. Alport syndrome. Molecular genetic aspects. Hertz JM Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [TBL] [Abstract][Full Text] [Related]
19. Leigh syndrome caused by mutations in Hayhurst H; de Coo IFM; Piekutowska-Abramczuk D; Alston CL; Sharma S; Thompson K; Rius R; He L; Hopton S; Ploski R; Ciara E; Lake NJ; Compton AG; Delatycki MB; Verrips A; Bonnen PE; Jones SA; Morris AA; Shakespeare D; Christodoulou J; Wesol-Kucharska D; Rokicki D; Smeets HJM; Pronicka E; Thorburn DR; Gorman GS; McFarland R; Taylor RW; Ng YS Ann Clin Transl Neurol; 2019 Mar; 6(3):515-524. PubMed ID: 30911575 [TBL] [Abstract][Full Text] [Related]
20. [Clinical and genetic characteristics of children with Leigh syndrome]. Fang F; Shen Y; Shen DM; Liu ZM; Ding CH; Zhang WC; Sun SZ; Lyu JL; Han TL; Wang XH; Zhang WH; Yang XY; Li JW; Wu HS Zhonghua Er Ke Za Zhi; 2017 Mar; 55(3):205-209. PubMed ID: 28273704 [No Abstract] [Full Text] [Related] [Next] [New Search]