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Journal Abstract Search

169 related items for PubMed ID: 12461693

  • 1. Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.
    Chapiro E, Feldmann D, Denoyelle F, Sternberg D, Jardel C, Eliot MM, Bouccara D, Weil D, Garabédian EN, Couderc R, Petit C, Marlin S.
    Eur J Hum Genet; 2002 Dec; 10(12):851-6. PubMed ID: 12461693
    [Abstract] [Full Text] [Related]

  • 2. Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
    Lévêque M, Marlin S, Jonard L, Procaccio V, Reynier P, Amati-Bonneau P, Baulande S, Pierron D, Lacombe D, Duriez F, Francannet C, Mom T, Journel H, Catros H, Drouin-Garraud V, Obstoy MF, Dollfus H, Eliot MM, Faivre L, Duvillard C, Couderc R, Garabedian EN, Petit C, Feldmann D, Denoyelle F.
    Eur J Hum Genet; 2007 Nov; 15(11):1145-55. PubMed ID: 17637808
    [Abstract] [Full Text] [Related]

  • 3. Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation.
    Hutchin TP, Lench NJ, Arbuzova S, Markham AF, Mueller RF.
    Eur J Hum Genet; 2001 Jan; 9(1):56-8. PubMed ID: 11175301
    [Abstract] [Full Text] [Related]

  • 4. [Mitochondrial DNA mutations and non-syndromic sensorineural hearing loss].
    Kong W, Wang Q, Zheng X, Cheng H.
    Zhonghua Er Bi Yan Hou Ke Za Zhi; 2002 Oct; 37(5):338-42. PubMed ID: 12772452
    [Abstract] [Full Text] [Related]

  • 5. Prevalence and clinical features of the mitochondrial m.1555A>G mutation in Taiwanese patients with idiopathic sensorineural hearing loss and association of haplogroup F with low penetrance in three families.
    Wu CC, Chiu YH, Chen PJ, Hsu CJ.
    Ear Hear; 2007 Jun; 28(3):332-42. PubMed ID: 17485982
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Maternally inherited deafness associated with a T1095C mutation in the mDNA.
    Tessa A, Giannotti A, Tieri L, Vilarinho L, Marotta G, Santorelli FM.
    Eur J Hum Genet; 2001 Feb; 9(2):147-9. PubMed ID: 11313749
    [Abstract] [Full Text] [Related]

  • 8. Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss.
    Nahili H, Charif M, Boulouiz R, Bounaceur S, Benrahma H, Abidi O, Chafik A, Rouba H, Kandil M, Barakat A.
    Int J Pediatr Otorhinolaryngol; 2010 Sep; 74(9):1071-4. PubMed ID: 20637512
    [Abstract] [Full Text] [Related]

  • 9. Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.
    Abe S, Usami S, Shinkawa H, Weston MD, Overbeck LD, Hoover DM, Kenyon JB, Horai S, Kimberling WJ.
    Eur J Hum Genet; 1998 Sep; 6(6):563-9. PubMed ID: 9887373
    [Abstract] [Full Text] [Related]

  • 10. [Mitochondrial DNA A1555G mutation of seven families with nonsyndromic hearing loss].
    Ou QS, Cheng ZJ, Yang B, Jiang L, Chen J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Oct; 26(5):550-4. PubMed ID: 19806580
    [Abstract] [Full Text] [Related]

  • 11. [Screening for mitochondrial DNA mutation in two pedigrees with nonsyndromic inherited sensorineural hearing loss].
    Li W, Han D, Yuan H, Wang Y, Cao J, Yang W, Jiang S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Feb; 19(1):64-7. PubMed ID: 11836692
    [Abstract] [Full Text] [Related]

  • 12. Nonsyndromic hearing loss caused by a mitochondrial T7511C mutation.
    Ishikawa K, Tamagawa Y, Takahashi K, Kimura H, Kusakari J, Hara A, Ichimura K.
    Laryngoscope; 2002 Aug; 112(8 Pt 1):1494-9. PubMed ID: 12172268
    [Abstract] [Full Text] [Related]

  • 13. Hearing loss due to the mitochondrial A1555G mutation in Italian families.
    Casano RA, Bykhovskaya Y, Johnson DF, Hamon M, Torricelli F, Bigozzi M, Fischel-Ghodsian N.
    Am J Med Genet; 1998 Oct 12; 79(5):388-91. PubMed ID: 9779807
    [Abstract] [Full Text] [Related]

  • 14. [Audiological findings and mitochondrial DNA mutation in a large family with matrilineal sensorineural hearing loss].
    Xing G, Bu X, Yan M, Lu L, Yang S.
    Zhonghua Er Bi Yan Hou Ke Za Zhi; 2000 Apr 12; 35(2):98-101. PubMed ID: 12768662
    [Abstract] [Full Text] [Related]

  • 15. Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.
    Verhoeven K, Ensink RJ, Tiranti V, Huygen PL, Johnson DF, Schatteman I, Van Laer L, Verstreken M, Van de Heyning P, Fischel-Ghodsian N, Zeviani M, Cremers CW, Willems PJ, Van Camp G.
    Eur J Hum Genet; 1999 Jan 12; 7(1):45-51. PubMed ID: 10094190
    [Abstract] [Full Text] [Related]

  • 16. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.
    Dai P, Liu X, Han D, Qian Y, Huang D, Yuan H, Li W, Yu F, Zhang R, Lin H, He Y, Yu Y, Sun Q, Qin H, Li R, Zhang X, Kang D, Cao J, Young WY, Guan MX.
    Biochem Biophys Res Commun; 2006 Feb 03; 340(1):194-9. PubMed ID: 16375862
    [Abstract] [Full Text] [Related]

  • 17. Isolated hearing loss associated with T7511C mutation in mitochondrial DNA.
    Yamasoba T, Tsukuda K, Suzuki M.
    Acta Otolaryngol Suppl; 2007 Dec 03; (559):13-8. PubMed ID: 18340555
    [Abstract] [Full Text] [Related]

  • 18. [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 03; 21(6):629-32. PubMed ID: 15583999
    [Abstract] [Full Text] [Related]

  • 19. Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.
    Yan X, Wang X, Wang Z, Sun S, Chen G, He Y, Mo JQ, Li R, Jiang P, Lin Q, Sun M, Li W, Bai Y, Zhang J, Zhu Y, Lu J, Yan Q, Li H, Guan MX.
    J Med Genet; 2011 Oct 03; 48(10):682-90. PubMed ID: 21931169
    [Abstract] [Full Text] [Related]

  • 20. A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation.
    Mancuso M, Filosto M, Forli F, Rocchi A, Berrettini S, Siciliano G, Murri L.
    Acta Neurol Scand; 2004 Jul 03; 110(1):72-4. PubMed ID: 15180810
    [Abstract] [Full Text] [Related]

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