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Pearce WG, Nigam S, Rootman J. Primary anophthalmos. Histological and genetic features. Can J Ophthalmol. 1974; 9(1): 141-145.PearceWGNigamSRootmanJ.Primary anophthalmos. Histological and genetic features197491141145Search in Google Scholar
McLean CJ, Ragge NK, Jones RB, Collin JRO. The management of orbital cysts associated with congenital microphthalmos and anophthalmos. Br J Ophthalmol. 2003; 87(7): 860-863.McLeanCJRaggeNKJonesRBCollinJRO.The management of orbital cysts associated with congenital microphthalmos and anophthalmos200387786086310.1136/bjo.87.7.860177174912812886Search in Google Scholar
Bernardino CR. Congenital anophthalmia: A review of dealing with volume. Middle East Afr J Ophthalmol. 2010; 17(2): 156-160.BernardinoCR.Congenital anophthalmia: A review of dealing with volume201017215616010.4103/0974-9233.63082289213220616923Search in Google Scholar
Verma AS, FitzPatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis. 2007; 2(11): 47-54.VermaASFitzPatrickDR.Anophthalmia and microphthalmia2007211475410.1186/1750-1172-2-47224609818039390Search in Google Scholar
Reis LM, Tyler RC, Schneider A, Bardakjian T, Semina EV. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. Mol Vis. 2010; 16(4): 768-773.ReisLMTylerRCSchneiderABardakjianTSeminaEV.Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes2010164768773Search in Google Scholar
Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, et al. Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters. Am J Med Genet A. 2008; 146(21): 2794-2798. doi: 1002/ajmg.a.32384.SchneiderABardakjianTMZhouJHughesNKeepRDorsainvilleDet al.Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters20081462127942798doi1002/ajmg.a.32384Open DOISearch in Google Scholar
Shah SP, Taylor A, Sowden JC, Ragge NK, Russell-Eggitt I, Rahi JS, et al. Anophthalmos, microphthalmos and typical coloboma in the UK: A prospective study of incidence and risk. Invest Ophthalmol Vis Sci. 2011; 52(1): 558-564.ShahSPTaylorASowdenJCRaggeNKRussell-EggittIRahiJSet al.Anophthalmos, microphthalmos and typical coloboma in the UK: A prospective study of incidence and risk201152155856410.1167/iovs.10-526320574025Search in Google Scholar
Duke-Elder S. Anophthalmos and extreme microphthalmos: System of Ophthalmology. St Louis, MO, USA: Mosby Year Book, Inc. 1964: 416-423.Duke-ElderS.St Louis, MO, USAMosby Year Book, Inc1964416423Search in Google Scholar
Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, et al. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Mol Vis. 2008; 14(3): 583-592.ZhouJKheraniFBardakjianTMKatowitzJHughesNSchimmentiLAet al.Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia2008143583592Search in Google Scholar
Joseph RA. Pedigree of anophthalmos. Br J Ophthalmol. 1957; 41(9): 541-543.JosephRA.Pedigree of anophthalmos195741954154310.1136/bjo.41.9.54150959713460221Search in Google Scholar
Oliveira da Silva E, Santana de Sousa S. Clinical anophthalmia. Hum Genet. 1981; 57(1):115-116.Oliveira da SilvaESantana de SousaS.Clinical anophthalmia198157111511610.1007/BF002711837262867Search in Google Scholar
Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villaneuva-Mendoza C, et al. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. Br J Ophthalmol. 2010; 94(8): 1100-1104.Gonzalez-RodriguezJPelcastreELTovilla-CanalesJLGarcia-OrtizJEAmato-AlmanzaMVillaneuva-MendozaCet al.Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases20109481100110410.1136/bjo.2009.17350020494911Search in Google Scholar
Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, et al. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: Investigation of genetic aetiology. J Med Genet. 2002; 39(1): 16-22.MorrisonDFitzPatrickDHansonIWilliamsonKvan HeyningenVFleckBet al.National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: Investigation of genetic aetiology2002391162210.1136/jmg.39.1.16173496311826019Search in Google Scholar
Campbell H, Holmes E, MacDonald S, Morrison D, Jones I. A capture-recapture model to estimate prevalence of children born in Scotland with developmental eye defects. J Cancer Epidemiol Prev. 2002; 7(1): 21-28.CampbellHHolmesEMacDonaldSMorrisonDJonesI.A capture-recapture model to estimate prevalence of children born in Scotland with developmental eye defects200271212810.1080/1476665025296264912369602Search in Google Scholar
Shaw GM, Carmichael SL, Yang W, Harris JA, Finnell RH, Lammer EJ. Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. Am J Med Genet A. 2005; 137(1): 36-40.ShawGMCarmichaelSLYangWHarrisJAFinnellRHLammerEJ.Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-199720051371364010.1002/ajmg.a.30840Search in Google Scholar
Kallen B, Tornqvist K. The epidemiology of anophthalmia and microphthalmia in Sweden. Eur J Epidemiol. 2005; 20(4): 345-50.KallenBTornqvistK.The epidemiology of anophthalmia and microphthalmia in Sweden20052043455010.1007/s10654-004-6880-1Search in Google Scholar
Lowry RB, Kohut R, Sibbald B, Rouleau J. Anophthalmia and microphthalmia in the Alberta congenital anomalies surveillance system. Can J Ophthalmol. 2005;40(1): 38-44.LowryRBKohutRSibbaldBRouleauJ.Anophthalmia and microphthalmia in the Alberta congenital anomalies surveillance system2005401384410.1016/S0008-4182(05)80115-2Search in Google Scholar
Forrester MB, Merz RD. Descriptive epidemiology of anophthalmia and microphthalmia in Hawaii, 1986-2001. Birth Defects. Res A Clin Mol Teratol. 2006; 76(3): 187-192.ForresterMBMerzRD.Descriptive epidemiology of anophthalmia and microphthalmia in Hawaii, 1986-2001. Birth Defects200676318719210.1002/bdra.2023716498668Search in Google Scholar
Hussain R, Bittles AH. The prevalence and demographic characteristics of consanguineous marriages in Pakistan. J Biosoc Sci. 1998; 30(2): 261-275.HussainRBittlesAH.The prevalence and demographic characteristics of consanguineous marriages in Pakistan199830226127510.1017/S00219320980026129746828Search in Google Scholar
Bittles AH. Consanguinity and its relevance to clinical genetics. Clin Genet. 2001; 60(2): 89-98.BittlesAH.Consanguinity and its relevance to clinical genetics2001602899810.1034/j.1399-0004.2001.600201.x11553039Search in Google Scholar
Maniatis T, Fritsch EF, Sambrook J. Molecular Cloning: A Laboratory Manual, 2nd ed. Cold Spring Harbor, NY, USA: Cold Spring Harbor Laboratory Press, 1982.ManiatisTFritschEFSambrookJ.2nd edCold Spring Harbor, NY, USACold Spring Harbor Laboratory Press1982Search in Google Scholar
O’Keefe M, Webb M, Pashby RC, Wagman RD. Clinical anophthalmos. Br J Ophthalmol. 1987; 71(8): 635-638.O’KeefeMWebbMPashbyRCWagmanRD.Clinical anophthalmos198771863563810.1136/bjo.71.8.63510412473651379Search in Google Scholar
Brunquell PJ, Papale, JH, Horton JC, Williams RS, Zgrabik MJ, Albert DM, et al. Sex-linked hereditary bilateral anophthalmos. Arch Ophthalmol. 1984; 102(1): 108-113.BrunquellPJPapaleJHHortonJCWilliamsRSZgrabikMJAlbertDMet al.Sex-linked hereditary bilateral anophthalmos1984102110811310.1001/archopht.1984.010400300920446538407Search in Google Scholar
Fantes JA, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, et al. Mutations in SOX2 cause anophthalmia. Nat Genet. 2003; 33(4): 461-463.FantesJARaggeNKLynchSAMcGillNICollinJRHoward-PeeblesPNet al.Mutations in SOX2 cause anophthalmia200333446146310.1038/ng112012612584Search in Google Scholar
Stevanovic M, Zuffardi O, Collignon J, Lovell-Badge R, Goodfellow P. The cDNA sequence and chromosomal location of the human SOX2 gene. Mamm Genome. 1994; 5(10): 640-642.StevanovicMZuffardiOCollignonJLovell-BadgeRGoodfellowP.The cDNA sequence and chromosomal location of the human SOX2 gene199451064064210.1007/BF004114607849401Search in Google Scholar
D’Amour KA, Gage FH. Genetic and functional differences between multipotent neural and pluripotent embryonic stem cells. Proc Natl Acad Sci USA. 2003; 100(Suppl 1): 11866-11872.D’AmourKAGageFH.Genetic and functional differences between multipotent neural and pluripotent embryonic stem cells2003100Suppl 1118661187210.1073/pnas.183420010030410012923297Search in Google Scholar
Ellis P, Fagan BM, Magness S, Hutton S, Taranova O, Hayashi S, et al. SOX2, a persistent marker for multi-potential neural stem cells derived from embryonic stem cells, the embryo or the adult. Dev Neurosci. 2004; 26(2): 148-165.EllisPFaganBMMagnessSHuttonSTaranovaOHayashiSet al.SOX2, a persistent marker for multi-potential neural stem cells derived from embryonic stem cells, the embryo or the adult200426214816510.1159/00008213415711057Search in Google Scholar
Ferri ALM, Cavallaro M, Braida D, Di Cristofano A, Canta A, Vezzani A, et al. SOX2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain. Development. 2004; 131(15): 3805-3819.FerriALMCavallaroMBraidaDDi CristofanoACantaAVezzaniAet al.SOX2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain2004131153805381910.1242/dev.0120415240551Search in Google Scholar
Zenteno JC, Gascon-Guzman G, Tovilla-Canales JL. Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. (Letter) Clin Genet. 2005; 68(6): 564-566.ZentenoJCGascon-GuzmanGTovilla-CanalesJL.Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene200568656456610.1111/j.1399-0004.2005.00518.x16283891Search in Google Scholar
Ragge, NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, et al. SOX2 anophthalmia syndrome. Am J Med Genet A. 2005; 135(1): 1-7.RaggeNKLorenzBSchneiderABushbyKde SanctisLde SanctisUet al.SOX2 anophthalmia syndrome200513511710.1002/ajmg.a.3064215812812Search in Google Scholar
Hagstrom SA, Pauer GJT, Reid J, Simpson E, Crowe S, Maumenee IH, et al. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Am J Med Genet A. 2005; 138(2): 95-98.HagstromSAPauerGJTReidJSimpsonECroweSMaumeneeIHet al.SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies20051382959810.1002/ajmg.a.3080316145681Search in Google Scholar
Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, et al. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Am J Med Genet A. 2006; 140(6): 636-639.FaivreLWilliamsonKAFaberVLaurentNGrimaldiMThauvin-RobinetCet al.Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother2006140663663910.1002/ajmg.a.3111416470798Search in Google Scholar
Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, et al. Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. Am J Med Genet A. 2007; 143(3): 289-291.ChassaingNGilbert-DussardierBNicotFFermeauxVEncha-RazaviFFiorenzaMet al.Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement2007143328929110.1002/ajmg.a.3152417219395Search in Google Scholar
Pedace L, Castori M, Binni F, Pingi A, Grammatico B, Scommegna S, et al. A novel heterozygous SOX2 mutation causing anophthalmia/ microphthalmia with genital anomalies. Eur J Med Genet. 2009; 52(4): 273-276.PedaceLCastoriMBinniFPingiAGrammaticoBScommegnaSet al.A novel heterozygous SOX2 mutation causing anophthalmia/ microphthalmia with genital anomalies200952427327610.1016/j.ejmg.2009.02.00719254784Search in Google Scholar