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 *

141 related articles for article (PubMed ID: 24804704)

  • 1. Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.
    Suzuki J; Azuma N; Dateki S; Soneda S; Muroya K; Yamamoto Y; Saito R; Sano S; Nagai T; Wada H; Endo A; Urakami T; Ogata T; Fukami M
    J Hum Genet; 2014 Jun; 59(6):353-6. PubMed ID: 24804704
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.
    Errichiello E; Gorgone C; Giuliano L; Iadarola B; Cosentino E; Rossato M; Kurtas NE; Delledonne M; Mattina T; Zuffardi O
    Eur J Med Genet; 2018 Jun; 61(6):335-340. PubMed ID: 29371155
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
    Blackburn PR; Chacon-Camacho OF; Ortiz-González XR; Reyes M; Lopez-Uriarte GA; Zarei S; Bhoj EJ; Perez-Solorzano S; Vaubel RA; Murphree MI; Nava J; Cortes-Gonzalez V; Parisi JE; Villanueva-Mendoza C; Tirado-Torres IG; Li D; Klee EW; Pichurin PN; Zenteno JC
    Am J Med Genet A; 2018 Dec; 176(12):2710-2719. PubMed ID: 30450772
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
    Kelberman D; de Castro SC; Huang S; Crolla JA; Palmer R; Gregory JW; Taylor D; Cavallo L; Faienza MF; Fischetto R; Achermann JC; Martinez-Barbera JP; Rizzoti K; Lovell-Badge R; Robinson IC; Gerrelli D; Dattani MT
    J Clin Endocrinol Metab; 2008 May; 93(5):1865-73. PubMed ID: 18285410
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
    Gonzalez-Rodriguez J; Pelcastre EL; Tovilla-Canales JL; Garcia-Ortiz JE; Amato-Almanza M; Villanueva-Mendoza C; Espinosa-Mattar Z; Zenteno JC
    Br J Ophthalmol; 2010 Aug; 94(8):1100-4. PubMed ID: 20494911
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
    Dansault A; David G; Schwartz C; Jaliffa C; Vieira V; de la Houssaye G; Bigot K; Catin F; Tattu L; Chopin C; Halimi P; Roche O; Van Regemorter N; Munier F; Schorderet D; Dufier JL; Marsac C; Ricquier D; Menasche M; Penfornis A; Abitbol M
    Mol Vis; 2007 Apr; 13():511-23. PubMed ID: 17417613
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.
    Okoye O; Capasso J; Kopinsky SM; Amlie-Wolf L; Levin AV; Schneider A
    Am J Med Genet A; 2023 Aug; 191(8):2198-2203. PubMed ID: 37163579
    [TBL] [Abstract][Full Text] [Related]  

  • 13. SOX2 anophthalmia syndrome and dental anomalies.
    Chacon-Camacho OF; Fuerte-Flores BI; Ricardez-Marcial EF; Zenteno JC
    Am J Med Genet A; 2015 Nov; 167A(11):2830-3. PubMed ID: 26250054
    [TBL] [Abstract][Full Text] [Related]  

  • 14. SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
    Mauri L; Franzoni A; Scarcello M; Sala S; Garavelli L; Modugno A; Grammatico P; Patrosso MC; Piozzi E; Del Longo A; Gesu GP; Manfredini E; Primignani P; Damante G; Penco S
    Eur J Med Genet; 2015 Feb; 58(2):66-70. PubMed ID: 25542770
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
    Schilter KF; Reis LM; Schneider A; Bardakjian TM; Abdul-Rahman O; Kozel BA; Zimmerman HH; Broeckel U; Semina EV
    Clin Genet; 2013 Nov; 84(5):473-81. PubMed ID: 23701296
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Parent-of-origin effects in SOX2 anophthalmia syndrome.
    Osborne RJ; Kurinczuk JJ; Ragge NK
    Mol Vis; 2011; 17():3097-106. PubMed ID: 22171155
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.
    Chassaing N; Davis EE; McKnight KL; Niederriter AR; Causse A; David V; Desmaison A; Lamarre S; Vincent-Delorme C; Pasquier L; Coubes C; Lacombe D; Rossi M; Dufier JL; Dollfus H; Kaplan J; Katsanis N; Etchevers HC; Faguer S; Calvas P
    Genome Res; 2016 Apr; 26(4):474-85. PubMed ID: 26893459
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel SOX2 partner-factor domain mutation in a four-generation family.
    Mihelec M; Abraham P; Gibson K; Krowka R; Susman R; Storen R; Chen Y; Donald J; Tam PP; Grigg JR; Flaherty M; Gole GA; Jamieson RV
    Eur J Hum Genet; 2009 Nov; 17(11):1417-22. PubMed ID: 19471311
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.
    Takagi M; Narumi S; Asakura Y; Muroya K; Hasegawa Y; Adachi M; Hasegawa T
    Horm Res Paediatr; 2014; 81(2):133-8. PubMed ID: 24457197
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.