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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 23870133)

  • 21. Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.
    Young WY; Zhao L; Qian Y; Wang Q; Li N; Greinwald JH; Guan MX
    Biochem Biophys Res Commun; 2005 Mar; 328(4):1244-51. PubMed ID: 15708009
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes.
    Tabebi M; Safi W; Felhi R; Alila Fersi O; Keskes L; Abid M; Mnif M; Fakhfakh F
    Mol Genet Genomic Med; 2020 Jul; 8(7):e1292. PubMed ID: 32394641
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.
    Hutchin TP; Parker MJ; Young ID; Davis AC; Pulleyn LJ; Deeble J; Lench NJ; Markham AF; Mueller RF
    J Med Genet; 2000 Sep; 37(9):692-4. PubMed ID: 10978361
    [TBL] [Abstract][Full Text] [Related]  

  • 24. The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients.
    Rydzanicz M; Cywińska K; Wróbel M; Pollak A; Gawęcki W; Wojsyk-Banaszak I; Lechowicz U; Mueller-Malesińska M; Ołdak M; Płoski R; Skarżyński H; Szyfter K; Szyfter W
    Mol Genet Metab; 2011; 104(1-2):153-9. PubMed ID: 21621438
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis.
    Finnilä S; Hassinen IE; Ala-Kokko L; Majamaa K
    Am J Hum Genet; 2000 Mar; 66(3):1017-26. PubMed ID: 10712215
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Nonsyndromic inherited hearing impairment caused by mtDNA double mutations of A1555G and 961 insC].
    Cao X; Xing GQ; Wei QJ; Bu XK; Wang DY
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Dec; 21(6):629-32. PubMed ID: 15583999
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes in a patient with hearing impairment, diabetes and congenital visual loss.
    Mkaouar-Rebai E; Chamkha I; Kammoun T; Alila-Fersi O; Aloulou H; Hachicha M; Fakhfakh F
    Biochem Biophys Res Commun; 2013 Jan; 430(2):585-91. PubMed ID: 23219819
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.
    van den Ouweland JM; Lemkes HH; Trembath RC; Ross R; Velho G; Cohen D; Froguel P; Maassen JA
    Diabetes; 1994 Jun; 43(6):746-51. PubMed ID: 7910800
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Clinical characterizations of familial diabetes mellitus associated with mitochondrial gene mutation].
    Xiu L; Zhang Q; Yu B
    Zhonghua Yi Xue Za Zhi; 1997 Jun; 77(6):418-21. PubMed ID: 9772504
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The clinical and audiologic features of hearing loss due to mitochondrial mutations.
    Yelverton JC; Arnos K; Xia XJ; Nance WE; Pandya A; Dodson KM
    Otolaryngol Head Neck Surg; 2013 Jun; 148(6):1017-22. PubMed ID: 23525847
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature.
    Berrettini S; Forli F; Passetti S; Rocchi A; Pollina L; Cecchetti D; Mancuso M; Siciliano G
    Biosci Rep; 2008 Feb; 28(1):49-59. PubMed ID: 18215147
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment.
    Padma G; Ramchander PV; Nandur VU; Kumar KR; Padma T
    Genet Test Mol Biomarkers; 2012 Sep; 16(9):1092-7. PubMed ID: 22852811
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China.
    Wei Q; Wang S; Yao J; Lu Y; Chen Z; Xing G; Cao X
    J Transl Med; 2013 Jul; 11():163. PubMed ID: 23826813
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family.
    Ding Y; Ye YF; Li MY; Xia BH; Leng JH
    Mol Med Rep; 2020 Jan; 21(1):201-208. PubMed ID: 31939618
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.
    Mansergh FC; Millington-Ward S; Kennan A; Kiang AS; Humphries M; Farrar GJ; Humphries P; Kenna PF
    Am J Hum Genet; 1999 Apr; 64(4):971-85. PubMed ID: 10090882
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment.
    Lehtonen MS; Uimonen S; Hassinen IE; Majamaa K
    Eur J Hum Genet; 2000 Apr; 8(4):315-8. PubMed ID: 10854117
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.
    Elander J; McCormick EM; Värendh M; Stenfeldt K; Ganetzky RD; Goldstein A; Zolkipli-Cunningham Z; MacMullen LE; Xiao R; Falk MJ; Ehinger JK
    Mol Genet Metab; 2022 Nov; 137(3):230-238. PubMed ID: 36182714
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.
    Majamaa K; Moilanen JS; Uimonen S; Remes AM; Salmela PI; Kärppä M; Majamaa-Voltti KA; Rusanen H; Sorri M; Peuhkurinen KJ; Hassinen IE
    Am J Hum Genet; 1998 Aug; 63(2):447-54. PubMed ID: 9683591
    [TBL] [Abstract][Full Text] [Related]  

  • 39. The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
    Karaa A; Goldstein A
    Pediatr Diabetes; 2015 Feb; 16(1):1-9. PubMed ID: 25330715
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.
    Chen J; Yuan H; Lu J; Liu X; Wang G; Zhu Y; Cheng J; Wang X; Han B; Yang L; Yang S; Yang A; Sun Q; Kang D; Zhang X; Dai P; Zhai S; Han D; Young WY; Guan MX
    Mitochondrion; 2008 Sep; 8(4):285-92. PubMed ID: 18639500
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.