| 1 | Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. (22213154) | Bower M.... Heidet L. | 2012 | PAX2 |
| 2 | ABCB6 mutations cause ocular coloboma. (22226084) | Wang L.... Yang Z. | 2012 | ABCB6 |
| 3 | First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype. (21901792) | Casey J.... Ennis S. | 2011 | STRA6 |
| 4 | PAX6 gene analysis in irido-fundal coloboma. (21655361) | Kumar K.... Dada R. | 2011 | PAX6 |
| 5 | Mutational screening of CHX10, GDF6, OTX2, RAX and SO X2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum ca ses. (20494911) | Gonzalez-Rodriguez J.... Zenteno J.C. | 2010 | OTX2, SOX2, RAX |
| 6 | Homozygous FOXE3 mutations cause non-syndromic, bilat eral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. (20664696) | Ali M.... Zenteno J.C. | 2010 | FOXE3 |
| 7 | An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psy chomotor retardation and convulsions. (19464398) | Verheij J.B.... van Ravenswaaij-Arts C.M. | 2009 | EXT1, TRPS1 |
| 8 | A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. (19004499) | Abouzeid H.... Schorderet D.F. | 2009 | PAX6 |
| 9 | Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. (19158959) | London N.J.... Traboulsi E.I. | 2009 | RAX |
| 10 | A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature. (19452620) | Hanemaaijer N.... van Ravenswaaij-Arts C.M. | 2009 | POMGNT1 |
| 11 | Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (20057906) | Zhang X.... Zhang Q. | 2009 | BMP4, PAX6, LRP6 |
| 12 | A case of renal-coloboma syndrome associated with men tal developmental delay exhibiting a novel PAX2 gene mutation. (19954729) | Miyazawa T.... Takemura T. | 2009 | PAX2, PITX2 |
| 13 | Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. (18781617) | Wyatt A.... Ragge N. | 2008 | OTX2 |
| 14 | Novel SOX2 mutation associated with ocular coloboma in a Chinese family. (18474784) | Wang P.... Zhang Q. | 2008 | SOX2 |
| 15 | A new autosomal recessive syndrome of ocular coloboma s, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emi rati family. (18271001) | Al-Gazali L.... Dattani M. | 2008 | SOD1 |
| 16 | A clinico-genetic study of renal coloboma syndrome in children. (17541647) | Cheong H.I.... Choi Y. | 2007 | PAX2 |
| 17 | Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype. (17269592) | Taranta A.... Dello Strologo L. | 2007 | PAX2 |
| 18 | Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. (17403695) | Benetti E.... Murer L. | 2007 | PAX2 |
| 19 | New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia. (17296897) | Beby F.... Morle L. | 2007 | CRYAA |
| 20 | SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma. (17656375) | Gregory-Evans C.Y.... Gregory-Evans K. | 2007 | FADD, FGF3 |
| 21 | Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. (16082399) | Ozgul R.K.... Ogus A. | 2006 | RDH12, RPE65, GUCY2D |
| 22 | Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. (15505031) | Aijaz S.... Hanson I. | 2004 | SIX6 |
| 23 | Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. (15384097) | Gregory-Evans C.Y.... Gregory-Evans K. | 2004 | ZEB2 |
| 24 | Ureteric bud apoptosis and renal hypoplasia in transgenic PAX2-Bax fetal mice mimics the renal-coloboma syndrome. (14569086) | Dziarmaga A.... Eccles M. | 2003 | PAX2 |
| 25 | Norepinephrine regulates locomotor hyperactivity in the mouse mutant coloboma. (12759129) | Jones M.D.... Hess E.J. | 2003 | SNAP25 |
| 26 | Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. (14566649) | Schimmenti L.A.... Sieving P.A. | 2003 | PAX2 |
| 27 | A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the alpha 4 gene at Xq13. (14556245) | Graham J.M. Jr.... Cox T.C. | 2003 | IGBP1 |
| 28 | Renal-coloboma syndrome (12410411) | Asensio Sanchez V.M.... De Paz Garcia M. | 2002 | PAX2 |
| 29 | National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. (11826019) | Morrison D.... Campbell H. | 2002 | PAX6, SIX3, VSX2 |
| 30 | Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. (11772997) | Jamieson R.V.... Black G.C. | 2002 | MAF |
| 31 | Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family. (11241473) | Ford B.... Friedman J.M. | 2001 | PAX2 |
| 32 | Renal-coloboma syndrome: report of a novel PAX2 gene mutation. (11730657) | Chung G.W.... Ritter R. | 2001 | PAX2 |
| 33 | Renal coloboma syndrome. (11581073) | Dureau P.... Dufier J.L. | 2001 | PAX2 |
| 34 | PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. (11093271) | Amiel J.... Attie-Bitach T. | 2000 | PAX2 |
| 35 | Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. (10533062) | Schimmenti L.A.... Dobyns W.B. | 1999 | PAX2 |
| 36 | Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. (10466411) | Eccles M.R.... Schimmenti L.A. | 1999 | PAX2 |
| 37 | Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). (9760197) | Devriendt K.... Leys A. | 1998 | PAX2 |
| 38 | The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. (9783702) | Cunliffe H.E.... Eccles M.R. | 1998 | PAX2 |
| 39 | Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. (9106533) | Schimmenti L.A.... Eccles M.R. | 1997 | PAX2 |
| 40 | Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. (9132492) | Narahara K.... Richards R.I. | 1997 | PAX2 |
| 41 | The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. (8943028) | Favor J.... Schughart K. | 1996 | PAX2 |
| 42 | Mutation of PAX2 in two siblings with renal-coloboma syndrome. (8589702) | Sanyanusin P.... Eccles M.R. | 1995 | PAX2 |
| 43 | Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. (7795640) | Sanyanusin P.... Eccles M.R. | 1995 | PAX2 |
| 44 | Renal Coloboma Syndrome (20301624) | Schimmenti L.A.... Eccles M.R. | 1993 | PAX2 |
