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 *

165 related articles for article (PubMed ID: 20130917)

  • 41. BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein.
    Musharraf A; Kruspe D; Tomasch J; Besenbeck B; Englert C; Landgraf K
    PLoS One; 2014; 9(1):e87407. PubMed ID: 24489909
    [TBL] [Abstract][Full Text] [Related]  

  • 42. [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]  

  • 43. Novel EYA1 variants causing Branchio-oto-renal syndrome.
    Klingbeil KD; Greenland CM; Arslan S; Llamos Paneque A; Gurkan H; Demir Ulusal S; Maroofian R; Carrera-Gonzalez A; Montufar-Armendariz S; Paredes R; Elcioglu N; Menendez I; Behnam M; Foster J; Guo S; Escarfuller S; Cengiz FB; Duman D; Bademci G; Tekin M
    Int J Pediatr Otorhinolaryngol; 2017 Jul; 98():59-63. PubMed ID: 28583505
    [TBL] [Abstract][Full Text] [Related]  

  • 44. 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]  

  • 45. 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]  

  • 46. Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree.
    König R; Fuchs S; Dukiet C
    Eur J Pediatr; 1994 Jun; 153(6):446-50. PubMed ID: 8088301
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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]  

  • 48. Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome.
    Kalatzis V; Abdelhak S; Compain S; Vincent C; Petit C
    Genomics; 1996 Jun; 34(3):422-5. PubMed ID: 8786145
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Mapping of genetic modifiers of Eya1 ( bor/bor ) in CAST/EiJ and BALB/cJ that suppress cochlear aplasia and associated deafness.
    Niu H; Li X; Makmura L; Friedman RA
    Mamm Genome; 2008 Sep; 19(9):634-9. PubMed ID: 18836772
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.
    Masuda M; Kanno A; Nara K; Mutai H; Morisada N; Iijima K; Morimoto N; Nakano A; Sugiuchi T; Okamoto Y; Masuda S; Katsunuma S; Ogawa K; Matsunaga T
    Sci Rep; 2022 Jan; 12(1):969. PubMed ID: 35046468
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family.
    Xing ZK; Wang SY; Xia X; Ding WJ; Duan L; Cui X; Xu BC; Zhu YM; Liu XW
    Int J Pediatr Otorhinolaryngol; 2020 Nov; 138():110202. PubMed ID: 32717629
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.
    Melnick M; Hodes ME; Nance WE; Yune H; Sweeney A
    Clin Genet; 1978 May; 13(5):425-42. PubMed ID: 657583
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.
    Brophy PD; Alasti F; Darbro BW; Clarke J; Nishimura C; Cobb B; Smith RJ; Manak JR
    Hum Genet; 2013 Dec; 132(12):1339-50. PubMed ID: 23851940
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report.
    Tang P; Li J; Li J; Yang J; Zhu J
    Medicine (Baltimore); 2022 Oct; 101(43):e31172. PubMed ID: 36316881
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome.
    Chitayat D; Hodgkinson KA; Chen MF; Haber GD; Nakishima S; Sando I
    Am J Med Genet; 1992 Aug; 43(6):970-5. PubMed ID: 1415348
    [TBL] [Abstract][Full Text] [Related]  

  • 56. [Identification and genetic analysis of new mutations in
    Ma J; Huang R; Ma XL; Li X; Zhang TS; Ruan B
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2021 Sep; 56(9):966-971. PubMed ID: 34666446
    [No Abstract]   [Full Text] [Related]  

  • 57. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
    Abdelhak S; Kalatzis V; Heilig R; Compain S; Samson D; Vincent C; Weil D; Cruaud C; Sahly I; Leibovici M; Bitner-Glindzicz M; Francis M; Lacombe D; Vigneron J; Charachon R; Boven K; Bedbeder P; Van Regemorter N; Weissenbach J; Petit C
    Nat Genet; 1997 Feb; 15(2):157-64. PubMed ID: 9020840
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development.
    Landgraf K; Bollig F; Trowe MO; Besenbeck B; Ebert C; Kruspe D; Kispert A; Hänel F; Englert C
    Mol Cell Biol; 2010 Dec; 30(24):5764-75. PubMed ID: 20956555
    [TBL] [Abstract][Full Text] [Related]  

  • 59. 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]  

  • 60. Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation.
    Pao J; D'Arco F; Clement E; Picariello S; Moonis G; Robson CD; Juliano AF
    AJNR Am J Neuroradiol; 2022 Feb; 43(2):309-314. PubMed ID: 35058298
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.