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5. Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. Garcia-Diaz B; Barros MH; Sanna-Cherchi S; Emmanuele V; Akman HO; Ferreiro-Barros CC; Horvath R; Tadesse S; El Gharaby N; DiMauro S; De Vivo DC; Shokr A; Hirano M; Quinzii CM Am J Hum Genet; 2012 Oct; 91(4):729-36. PubMed ID: 23022099 [TBL] [Abstract][Full Text] [Related]
6. 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]
8. 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]
9. 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]
15. 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]
16. 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]
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18. Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant. Pereira S; Adrião M; Sampaio M; Basto MA; Rodrigues E; Vilarinho L; Teles EL; Alonso I; Leão M JIMD Rep; 2018; 42():113-119. PubMed ID: 29478218 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family. Jelani M; Kang C; Mohamoud HS; Al-Rehaili R; Almramhi MM; Serafi R; Yang H; Al-Aama JY; Naeem M; Alkhiary YM Arch Oral Biol; 2016 Jul; 67():28-33. PubMed ID: 27019138 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]