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 *

207 related articles for article (PubMed ID: 10090882)

  • 21. 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]  

  • 22. 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]  

  • 23. A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIle and mitochondrial translation.
    Meng F; Zhou M; Xiao Y; Mao X; Zheng J; Lin J; Lin T; Ye Z; Cang X; Fu Y; Wang M; Guan MX
    Nucleic Acids Res; 2021 Jan; 49(2):1075-1093. PubMed ID: 33398350
    [TBL] [Abstract][Full Text] [Related]  

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

  • 25. Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease.
    Humphries P; Farrar GJ; Kenna P; McWilliam P
    Clin Genet; 1990 Jul; 38(1):1-13. PubMed ID: 2201466
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.
    Gasparini P; De Fazio A; Croce AI; Stanziale P; Zelante L
    J Med Genet; 1998 Aug; 35(8):666-7. PubMed ID: 9719374
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Linkage analysis in Usher syndrome type I (USH1) families from Spain.
    Espinós C; Nájera C; Millán JM; Ayuso C; Baiget M; Pérez-Garrigues H; Rodrigo O; Vilela C; Beneyto M
    J Med Genet; 1998 May; 35(5):391-8. PubMed ID: 9610802
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.
    Götz A; Isohanni P; Liljeström B; Rummukainen J; Nikolajev K; Herrgård E; Marjavaara S; Suomalainen A
    Pediatr Res; 2012 Jul; 72(1):90-4. PubMed ID: 22453297
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
    Beneyto MM; Cuevas JM; Millán JM; Espinós C; Mateu E; González-Cabo P; Baiget M; Doménech M; Bernal S; Ayuso C; García-Sandoval B; Trujillo MJ; Borrego S; Antiñolo G; Carballo M; Nájera C
    Ophthalmic Genet; 2000 Jun; 21(2):123-8. PubMed ID: 10916187
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.
    Hutchin TP; Navarro-Coy NC; Van Camp G; Tiranti V; Zeviani M; Schuelke M; Jaksch M; Newton V; Mueller RF
    Eur J Hum Genet; 2001 May; 9(5):385-7. PubMed ID: 11378827
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.
    Saouda M; Mansour A; Bou Moglabey Y; El Zir E; Mustapha M; Chaib H; Nehmé A; Mégarbané A; Loiselet J; Petit C; Slim R
    Hum Genet; 1998 Aug; 103(2):193-8. PubMed ID: 9760205
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Usher syndrome type III can mimic other types of Usher syndrome.
    Pennings RJ; Fields RR; Huygen PL; Deutman AF; Kimberling WJ; Cremers CW
    Ann Otol Rhinol Laryngol; 2003 Jun; 112(6):525-30. PubMed ID: 12834121
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitus.
    Rigoli L; Salpietro DC; Caruso RA; Chiarenza A; Barberi I
    Acta Diabetol; 1999 Sep; 36(3):163-7. PubMed ID: 10664322
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A genetic analysis of retinitis pigmentosa.
    Boughman JA; Fishman GA
    Br J Ophthalmol; 1983 Jul; 67(7):449-54. PubMed ID: 6860611
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.
    Uehara DT; Rincon D; Abreu-Silva RS; Auricchio MT; Tabith A; Kok F; Mingroni-Netto RC
    Genet Test Mol Biomarkers; 2010 Oct; 14(5):611-6. PubMed ID: 20722495
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.
    Talebizadeh Z; Kelley PM; Askew JW; Beisel KW; Smith SD
    Hum Mutat; 1999; 14(6):493-501. PubMed ID: 10571947
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family.
    Malik S; Sudoyo H; Sasmono T; Winata S; Arhya IN; Pramoonjago P; Sudana W; Marzuki S
    J Hum Genet; 2003; 48(3):119-24. PubMed ID: 12624722
    [TBL] [Abstract][Full Text] [Related]  

  • 39. X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR.
    Weleber RG; Butler NS; Murphey WH; Sheffield VC; Stone EM
    Arch Ophthalmol; 1997 Nov; 115(11):1429-35. PubMed ID: 9366675
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana.
    Pelias MZ; Lemoine DR; Kossar AL; Ward LJ; Wilson AF; Elston RC
    Cytogenet Cell Genet; 1988; 47(1-2):111-2. PubMed ID: 3162715
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.