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    Results: 1 to 20 of 337

    1.

    Anophthalmia and microphthalmia.

    Verma AS, Fitzpatrick DR.

    Orphanet J Rare Dis. 2007 Nov 26;2:47. Review.PMID: 18039390 [PubMed - indexed for MEDLINE]Related articlesFree article

    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. Epub 2007 May 23.PMID: 17522144 [PubMed - indexed for MEDLINE]Related articles

    3.

    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 24;14:583-92.PMID: 18385794 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    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.PMID: 19397404 [PubMed - indexed for MEDLINE]Related articles

    5.

    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 15;135(1):1-7; discussion 8.PMID: 15812812 [PubMed - indexed for MEDLINE]Related articles

    6.

    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 Jul-Aug;52(4):273-6. Epub 2009 Feb 28.PMID: 19254784 [PubMed - indexed for MEDLINE]Related articles

    7.

    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 15;140(18):1899-903.PMID: 16892407 [PubMed - indexed for MEDLINE]Related articles

    8.

    Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.

    Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH.

    Hum Mol Genet. 2004 Feb 1;13(3):315-22. Epub 2003 Dec 8.PMID: 14662654 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    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.PMID: 15257456 [PubMed - indexed for MEDLINE]Related articles

    10.

    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.PMID: 19921648 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    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 1;15(9):1413-22. Epub 2006 Mar 16. Erratum in: Hum Mol Genet. 2006 Jun 15;15(12):2030. PMID: 16543359 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    Confirmation of RAX gene involvement in human anophthalmia.

    Lequeux L, Rio M, Vigouroux A, Titeux M, Etchevers H, Malecaze F, Chassaing N, Calvas P.

    Clin Genet. 2008 Oct;74(4):392-5. Epub 2008 Sep 9.PMID: 18783408 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression.

    Danno H, Michiue T, Hitachi K, Yukita A, Ishiura S, Asashima M.

    Proc Natl Acad Sci U S A. 2008 Apr 8;105(14):5408-13. Epub 2008 Apr 2.PMID: 18385377 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    The epidemiology of anophthalmia and microphthalmia in Sweden.

    Källén B, Tornqvist K.

    Eur J Epidemiol. 2005;20(4):345-50.PMID: 15971507 [PubMed - indexed for MEDLINE]Related articles

    15.

    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.PMID: 10932181 [PubMed - indexed for MEDLINE]Related articles

    16.

    Geographical variation in anophthalmia and microphthalmia in England, 1988-94.

    Dolk H, Busby A, Armstrong BG, Walls PH.

    BMJ. 1998 Oct 3;317(7163):905-9; discussion 910.PMID: 9756803 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001.

    Forrester MB, Merz RD.

    Birth Defects Res A Clin Mol Teratol. 2006 Mar;76(3):187-92.PMID: 16498668 [PubMed - indexed for MEDLINE]Related articles

    18.

    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. No abstract available. PMID: 17661825 [PubMed - indexed for MEDLINE]Related articles

    19.

    Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System.

    Lowry RB, Kohut R, Sibbald B, Rouleau J.

    Can J Ophthalmol. 2005 Feb;40(1):38-44. Erratum in: Can J Ophthalmol. 2006 Apr;41(2):232. PMID: 15825528 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94.

    Busby A, Dolk H, Collin R, Jones RB, Winter R.

    Arch Dis Child Fetal Neonatal Ed. 1998 Nov;79(3):F168-73.PMID: 10194985 [PubMed - indexed for MEDLINE]Related articlesFree article

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