BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

321 related articles for article (PubMed ID: 21280147)

  • 1. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
    Krug P; Morinière V; Marlin S; Koubi V; Gabriel HD; Colin E; Bonneau D; Salomon R; Antignac C; Heidet L
    Hum Mutat; 2011 Feb; 32(2):183-90. PubMed ID: 21280147
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.
    Wang SH; Wu CC; Lu YC; Lin YH; Su YN; Hwu WL; Yu IS; Hsu CJ
    Laryngoscope; 2012 May; 122(5):1130-6. PubMed ID: 22447252
    [TBL] [Abstract][Full Text] [Related]  

  • 3. SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
    Kochhar A; Orten DJ; Sorensen JL; Fischer SM; Cremers CW; Kimberling WJ; Smith RJ
    Hum Mutat; 2008 Apr; 29(4):565. PubMed ID: 18330911
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
    Sanggaard KM; Rendtorff ND; Kjaer KW; Eiberg H; Johnsen T; Gimsing S; Dyrmose J; Nielsen KO; Lage K; Tranebjaerg L
    Eur J Hum Genet; 2007 Nov; 15(11):1121-31. PubMed ID: 17637804
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
    Orten DJ; Fischer SM; Sorensen JL; Radhakrishna U; Cremers CW; Marres HA; Van Camp G; Welch KO; Smith RJ; Kimberling WJ
    Hum Mutat; 2008 Apr; 29(4):537-44. PubMed ID: 18220287
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
    Olavarrieta L; Morales-Angulo C; del Castillo I; Moreno F; Moreno-Pelayo MA
    Clin Genet; 2008 Mar; 73(3):262-7. PubMed ID: 18177466
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.
    Song MH; Kwon TJ; Kim HR; Jeon JH; Baek JI; Lee WS; Kim UK; Choi JY
    PLoS One; 2013; 8(6):e67236. PubMed ID: 23840632
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan.
    Morisada N; Nozu K; Iijima K
    Pediatr Int; 2014 Jun; 56(3):309-14. PubMed ID: 24730701
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome.
    Lee JD; Kim SC; Koh YW; Lee HJ; Choi SY; Kim UK
    Ann Clin Lab Sci; 2009; 39(3):303-6. PubMed ID: 19667416
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
    Kumar S; Kimberling WJ; Weston MD; Schaefer BG; Berg MA; Marres HA; Cremers CW
    Hum Mutat; 1998; 11(6):443-9. PubMed ID: 9603436
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
    Hoskins BE; Cramer CH; Silvius D; Zou D; Raymond RM; Orten DJ; Kimberling WJ; Smith RJ; Weil D; Petit C; Otto EA; Xu PX; Hildebrandt F
    Am J Hum Genet; 2007 Apr; 80(4):800-4. PubMed ID: 17357085
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.
    Schmidt T; Bierhals T; Kortüm F; Bartels I; Liehr T; Burfeind P; Shoukier M; Frank V; Bergmann C; Kutsche K
    Cytogenet Genome Res; 2014; 142(1):1-6. PubMed ID: 24135068
    [TBL] [Abstract][Full Text] [Related]  

  • 13. BOR and BO syndromes are allelic defects of EYA1.
    Vincent C; Kalatzis V; Abdelhak S; Chaib H; Compain S; Helias J; Vaneecloo FM; Petit C
    Eur J Hum Genet; 1997; 5(4):242-6. PubMed ID: 9359046
    [TBL] [Abstract][Full Text] [Related]  

  • 14. EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions.
    Okada M; Fujimaru R; Morimoto N; Satomura K; Kaku Y; Tsuzuki K; Nozu K; Okuyama T; Iijima K
    Pediatr Nephrol; 2006 Apr; 21(4):475-81. PubMed ID: 16491411
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.
    Chang EH; Menezes M; Meyer NC; Cucci RA; Vervoort VS; Schwartz CE; Smith RJ
    Hum Mutat; 2004 Jun; 23(6):582-9. PubMed ID: 15146463
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic research progress in branchio
    Chen A; Ling J; Feng Y
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2022 Jan; 47(1):129-138. PubMed ID: 35545373
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene].
    Markova TG
    Vestn Otorinolaringol; 2006; (6):25-8. PubMed ID: 17419499
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3).
    Stratakis CA; Lin JP; Rennert OM
    Am J Med Genet; 1998 Sep; 79(3):209-14. PubMed ID: 9788564
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.
    Gigante M; d'Altilia M; Montemurno E; Diella S; Bruno F; Netti GS; Ranieri E; Stallone G; Infante B; Grandaliano G; Gesualdo L
    BMC Nephrol; 2013 Mar; 14():60. PubMed ID: 23506628
    [TBL] [Abstract][Full Text] [Related]  

  • 20. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
    Ruf RG; Xu PX; Silvius D; Otto EA; Beekmann F; Muerb UT; Kumar S; Neuhaus TJ; Kemper MJ; Raymond RM; Brophy PD; Berkman J; Gattas M; Hyland V; Ruf EM; Schwartz C; Chang EH; Smith RJ; Stratakis CA; Weil D; Petit C; Hildebrandt F
    Proc Natl Acad Sci U S A; 2004 May; 101(21):8090-5. PubMed ID: 15141091
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.