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 *

154 related articles for article (PubMed ID: 18666230)

  • 1. Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
    Ou Z; Martin DM; Bedoyan JK; Cooper ML; Chinault AC; Stankiewicz P; Cheung SW
    Am J Med Genet A; 2008 Oct; 146A(19):2480-9. PubMed ID: 18666230
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.
    Ballesta-Martínez MJ; López-González V; Dulcet LA; Rodríguez-Santiago B; Garcia-Miñaúr S; Guillen-Navarro E
    Am J Med Genet A; 2013 Aug; 161A(8):2030-5. PubMed ID: 23794319
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23.
    Pras E; Mahler O; Kumar V; Frydman M; Gefen N; Pras E; Hejtmancik JF
    J Med Genet; 2006 Oct; 43(10):e50. PubMed ID: 17047090
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.
    Nolen LD; Amor D; Haywood A; St Heaps L; Willcock C; Mihelec M; Tam P; Billson F; Grigg J; Peters G; Jamieson RV
    Am J Med Genet A; 2006 Aug; 140(16):1711-8. PubMed ID: 16835935
    [TBL] [Abstract][Full Text] [Related]  

  • 6. OTX2 duplication is implicated in hemifacial microsomia.
    Zielinski D; Markus B; Sheikh M; Gymrek M; Chu C; Zaks M; Srinivasan B; Hoffman JD; Aizenbud D; Erlich Y
    PLoS One; 2014; 9(5):e96788. PubMed ID: 24816892
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9.
    Celse T; Tingaud-Sequeira A; Dieterich K; Siegfried G; Lecaignec C; Bouneau L; Fannemel M; Salaun G; Laffargue F; Martinez G; Satre V; Vieville G; Bidart M; Soussi Zander C; Turesson AC; Splitt M; Reboul D; Chiesa J; Khau Van Kien P; Godin M; Gruchy N; Goel H; Palmer E; Demetriou K; Shalhoub C; Rooryck C; Coutton C
    J Med Genet; 2023 Jun; 60(6):620-626. PubMed ID: 36368868
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.
    Lin AE; Semina EV; Daack-Hirsch S; Roeder ER; Curry CJ; Rosenbaum K; Weaver DD; Murray JC
    Am J Med Genet; 2000 Apr; 91(5):387-90. PubMed ID: 10767004
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy.
    Men M; Li W; Chen H; Wu J; Feng Y; Guo H; Li JD
    Laryngoscope; 2020 Feb; 130(2):526-532. PubMed ID: 30908667
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.
    Gallardo ME; Lopez-Rios J; Fernaud-Espinosa I; Granadino B; Sanz R; Ramos C; Ayuso C; Seller MJ; Brunner HG; Bovolenta P; Rodríguez de Córdoba S
    Genomics; 1999 Oct; 61(1):82-91. PubMed ID: 10512683
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Genomic amplification of orthodenticle homologue 2 in medulloblastomas.
    Boon K; Eberhart CG; Riggins GJ
    Cancer Res; 2005 Feb; 65(3):703-7. PubMed ID: 15705863
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly.
    Ala-Mello S; Siggberg L; Knuutila S; von Koskull H; Taskinen M; Peippo M
    Am J Med Genet A; 2008 Oct; 146A(19):2490-4. PubMed ID: 18792983
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.