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    Results: 1 to 20 of 127

    1.

    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

    2.

    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

    3.

    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

    4.

    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

    5.

    Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.

    Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N.

    Hum Mutat. 2008 Nov;29(11):E278-83.PMID: 18781617 [PubMed - indexed for MEDLINE]Related articles

    6.

    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

    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.

    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. Epub 2008 Feb 19.PMID: 18285410 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    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. Epub 2003 Mar 3.PMID: 12612584 [PubMed - indexed for MEDLINE]Related articles

    10.

    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

    11.

    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 1;146A(21):2794-8.PMID: 18831064 [PubMed - indexed for MEDLINE]Related articles

    12.

    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 2;13:511-23.PMID: 17417613 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    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 Nov 16. [Epub ahead of print]PMID: 19921648 [PubMed - as supplied by publisher]Related articles

    14.

    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 1;138A(2):95-8.PMID: 16145681 [PubMed - indexed for MEDLINE]Related articles

    15.

    Role of SOX2 mutations in human hippocampal malformations and epilepsy.

    Sisodiya SM, Ragge NK, Cavalleri GL, Hever A, Lorenz B, Schneider A, Williamson KA, Stevens JM, Free SL, Thompson PJ, van Heyningen V, Fitzpatrick DR.

    Epilepsia. 2006 Mar;47(3):534-42.PMID: 16529618 [PubMed - indexed for MEDLINE]Related articles

    16.

    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. Epub 2006 Aug 24.PMID: 16932809 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    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

    18.

    Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.

    Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K.

    Eur J Hum Genet. 2005 May;13(5):563-9.PMID: 15770227 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2.

    Guichet A, Triau S, Lépinard C, Esculapavit C, Biquard F, Descamps P, Encha-Razavi F, Bonneau D.

    Prenat Diagn. 2004 Oct;24(10):828-32.PMID: 15503273 [PubMed - indexed for MEDLINE]Related articles

    20.

    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.PMID: 17287405 [PubMed - indexed for MEDLINE]Related articlesFree article

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