BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

291 related articles for article (PubMed ID: 15257456)

  • 1. CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.
    Bar-Yosef U; Abuelaish I; Harel T; Hendler N; Ofir R; Birk OS
    Hum Genet; 2004 Sep; 115(4):302-9. PubMed ID: 15257456
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.
    Ferda Percin E; Ploder LA; Yu JJ; Arici K; Horsford DJ; Rutherford A; Bapat B; Cox DW; Duncan AM; Kalnins VI; Kocak-Altintas A; Sowden JC; Traboulsi E; Sarfarazi M; McInnes RR
    Nat Genet; 2000 Aug; 25(4):397-401. PubMed ID: 10932181
    [TBL] [Abstract][Full Text] [Related]  

  • 3. VSX2 mutations in autosomal recessive microphthalmia.
    Reis LM; Khan A; Kariminejad A; Ebadi F; Tyler RC; Semina EV
    Mol Vis; 2011; 17():2527-32. PubMed ID: 21976963
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
    Lin S; Harlalka GV; Hameed A; Reham HM; Yasin M; Muhammad N; Khan S; Baple EL; Crosby AH; Saleha S
    BMC Med Genet; 2018 Sep; 19(1):160. PubMed ID: 30200890
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.
    Faiyaz-Ul-Haque M; Zaidi SH; Al-Mureikhi MS; Peltekova I; Tsui LC; Teebi AS
    Clin Genet; 2007 Aug; 72(2):164-6. PubMed ID: 17661825
    [No Abstract]   [Full Text] [Related]  

  • 7. Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.
    Desmaison A; Vigouroux A; Rieubland C; Peres C; Calvas P; Chassaing N
    Mol Vis; 2010 Dec; 16():2847-9. PubMed ID: 21203406
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.
    Abouzeid H; Meire FM; Osman I; ElShakankiri N; Bolay S; Munier FL; Schorderet DF
    Ophthalmology; 2009 Jan; 116(1):154-162.e1. PubMed ID: 19004499
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.
    Iseri SU; Wyatt AW; Nürnberg G; Kluck C; Nürnberg P; Holder GE; Blair E; Salt A; Ragge NK
    Hum Genet; 2010 Jul; 128(1):51-60. PubMed ID: 20414678
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.
    Said MB; Chouchène E; Salem SB; Daoud K; Largueche L; Bouassida W; Benzina Z; Ayadi H; Söderkvist P; Matri L; Hmani-Aifa M
    Gene; 2013 Oct; 528(2):288-94. PubMed ID: 23820083
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Linkage mapping of ovine microphthalmia to chromosome 23, the sheep orthologue of human chromosome 18.
    Tetens J; Ganter M; Müller G; Drögemüller C
    Invest Ophthalmol Vis Sci; 2007 Aug; 48(8):3506-15. PubMed ID: 17652717
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia.
    Chassaing N; Vigouroux A; Calvas P
    Genet Test Mol Biomarkers; 2009 Jun; 13(3):289-90. PubMed ID: 19397404
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
    Roos L; Fang M; Dali C; Jensen H; Christoffersen N; Wu B; Zhang J; Xu R; Harris P; Xu X; Grønskov K; Tümer Z
    Clin Genet; 2014 Sep; 86(3):276-81. PubMed ID: 24024553
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of PITX3 mutations in individuals with various ocular developmental defects.
    Zazo Seco C; Plaisancié J; Lupasco T; Michot C; Pechmeja J; Delanne J; Cottereau E; Ayuso C; Corton M; Calvas P; Ragge N; Chassaing N
    Ophthalmic Genet; 2018 Jun; 39(3):314-320. PubMed ID: 29405783
    [TBL] [Abstract][Full Text] [Related]  

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

  • 19. 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]  

  • 20. A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.
    Hmani-Aifa M; Ben Salem S; Benzina Z; Bouassida W; Messaoud R; Turki K; Khairallah M; Rebaï A; Fakhfekh F; Söderkvist P; Ayadi H
    Hum Genet; 2009 Oct; 126(4):575-87. PubMed ID: 19526372
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.