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 *

250 related articles for article (PubMed ID: 15812812)

  • 1. SOX2 anophthalmia syndrome.
    Ragge NK; Lorenz B; Schneider A; Bushby K; de Sanctis L; de Sanctis U; Salt A; Collin JR; Vivian AJ; Free SL; Thompson P; Williamson KA; Sisodiya SM; van Heyningen V; Fitzpatrick DR
    Am J Med Genet A; 2005 May; 135(1):1-7; discussion 8. PubMed ID: 15812812
    [TBL] [Abstract][Full Text] [Related]  

  • 2. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
    Bakrania P; Robinson DO; Bunyan DJ; Salt A; Martin A; Crolla JA; Wyatt A; Fielder A; Ainsworth J; Moore A; Read S; Uddin J; Laws D; Pascuel-Salcedo D; Ayuso C; Allen L; Collin JR; Ragge NK
    Br J Ophthalmol; 2007 Nov; 91(11):1471-6. PubMed ID: 17522144
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
    Williamson KA; Hever AM; Rainger J; Rogers RC; Magee A; Fiedler Z; Keng WT; Sharkey FH; McGill N; Hill CJ; Schneider A; Messina M; Turnpenny PD; Fantes JA; van Heyningen V; FitzPatrick DR
    Hum Mol Genet; 2006 May; 15(9):1413-22. PubMed ID: 16543359
    [TBL] [Abstract][Full Text] [Related]  

  • 4. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
    Hagstrom SA; Pauer GJ; Reid J; Simpson E; Crowe S; Maumenee IH; Traboulsi EI
    Am J Med Genet A; 2005 Oct; 138A(2):95-8. PubMed ID: 16145681
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.
    Zenteno JC; Perez-Cano HJ; Aguinaga M
    Am J Med Genet A; 2006 Sep; 140(18):1899-903. PubMed ID: 16892407
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
    Zhou J; Kherani F; Bardakjian TM; Katowitz J; Hughes N; Schimmenti LA; Schneider A; Young TL
    Mol Vis; 2008 Mar; 14():583-92. PubMed ID: 18385794
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Anophthalmia and microphthalmia.
    Verma AS; Fitzpatrick DR
    Orphanet J Rare Dis; 2007 Nov; 2():47. PubMed ID: 18039390
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.
    Zenteno JC; Gascon-Guzman G; Tovilla-Canales JL
    Clin Genet; 2005 Dec; 68(6):564-6. PubMed ID: 16283891
    [No Abstract]   [Full Text] [Related]  

  • 9. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
    Schneider A; Bardakjian T; Reis LM; Tyler RC; Semina EV
    Am J Med Genet A; 2009 Dec; 149A(12):2706-15. PubMed ID: 19921648
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.
    Schneider A; Bardakjian TM; Zhou J; Hughes N; Keep R; Dorsainville D; Kherani F; Katowitz J; Schimmenti LA; Hummel M; Fitzpatrick DR; Young TL
    Am J Med Genet A; 2008 Nov; 146A(21):2794-8. PubMed ID: 18831064
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.
    Faivre L; Williamson KA; Faber V; Laurent N; Grimaldi M; Thauvin-Robinet C; Durand C; Mugneret F; Gouyon JB; Bron A; Huet F; Hayward C; Heyningen Vv; Fitzpatrick DR
    Am J Med Genet A; 2006 Mar; 140(6):636-9. PubMed ID: 16470798
    [No Abstract]   [Full Text] [Related]  

  • 12. Mutations in SOX2 cause anophthalmia.
    Fantes J; Ragge NK; Lynch SA; McGill NI; Collin JR; Howard-Peebles PN; Hayward C; Vivian AJ; Williamson K; van Heyningen V; FitzPatrick DR
    Nat Genet; 2003 Apr; 33(4):461-3. PubMed ID: 12612584
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
    Dennert N; Engels H; Cremer K; Becker J; Wohlleber E; Albrecht B; Ehret JK; Lüdecke HJ; Suri M; Carignani G; Renieri A; Kukuk GM; Wieland T; Andrieux J; Strom TM; Wieczorek D; Dieux-Coëslier A; Zink AM
    Am J Med Genet A; 2017 Feb; 173(2):435-443. PubMed ID: 27862890
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.
    Reis LM; Tyler RC; Schneider A; Bardakjian T; Semina EV
    Mol Vis; 2010 Apr; 16():768-73. PubMed ID: 20454695
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
    Kelberman D; Rizzoti K; Avilion A; Bitner-Glindzicz M; Cianfarani S; Collins J; Chong WK; Kirk JM; Achermann JC; Ross R; Carmignac D; Lovell-Badge R; Robinson IC; Dattani MT
    J Clin Invest; 2006 Sep; 116(9):2442-55. PubMed ID: 16932809
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.
    Vidya NG; Rajkumar S; Vasavada AR
    Ophthalmic Genet; 2018 Jun; 39(3):344-352. PubMed ID: 29461140
    [TBL] [Abstract][Full Text] [Related]  

  • 17. RAX and anophthalmia in humans: evidence of brain anomalies.
    Abouzeid H; Youssef MA; Bayoumi N; ElShakankiri N; Marzouk I; Hauser P; Schorderet DF
    Mol Vis; 2012; 18():1449-56. PubMed ID: 22736936
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.
    Pedace L; Castori M; Binni F; Pingi A; Grammatico B; Scommegna S; Majore S; Grammatico P
    Eur J Med Genet; 2009; 52(4):273-6. PubMed ID: 19254784
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.
    Sato N; Kamachi Y; Kondoh H; Shima Y; Morohashi K; Horikawa R; Ogata T
    Eur J Endocrinol; 2007 Feb; 156(2):167-71. PubMed ID: 17287405
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The master transcription factor SOX2, mutated in anophthalmia/microphthalmia, is post-transcriptionally regulated by the conserved RNA-binding protein RBM24 in vertebrate eye development.
    Dash S; Brastrom LK; Patel SD; Scott CA; Slusarski DC; Lachke SA
    Hum Mol Genet; 2020 Mar; 29(4):591-604. PubMed ID: 31814023
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.