| 1 | ONCR, PAX2
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| Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
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| Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, Decramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L.
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| Hum Mutat 33(3):457-66. doi: 10.1002/humu.22020. Epub 2012 Jan 31.
2012
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| 2 | ONCR, PAX2
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| Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.
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| Raca G, Jackson CA, Kucinskas L, Warman B, Shieh JT, Schneider A, Bardakjian TM, Schimmenti LA.
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| Genet Med 13(5):437-442.
2011
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| 3 | ONCR, PAX2
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| Renal coloboma syndrome.
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| Schimmenti LA.
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| Eur J Hum Genet 19(12):1207-12. doi: 10.1038/ejhg.2011.102. Epub 2011 Jun 8. Review.
2011
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| 4 | ONCR, PAX2
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| Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.
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| Alur RP, Vijayasarathy C, Brown JD, Mehtani M, Onojafe IF, Sergeev YV, Boobalan E, Jones M, Tang K, Liu H, Xia CH, Gong X, Brooks BP.
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| PLoS Genet 6(3):e1000870.PMID: 20221250 2010
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| 5 | ONCR, PAX2
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| PAX2 mutations in fetal renal hypodysplasia.
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| Martinovic-Bouriel J, Benachi A, Bonnière M, Brahimi N, Esculpavit C, Morichon N, Vekemans M, Antignac C, Salomon R, Encha-Razavi F, Attié-Bitach T, Gubler MC.
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| Am J Med Genet A 152A(4):830-5.PMID: 20358591 2010
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| 6 | ONCR, PAX2
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| Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype.
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| Taranta A, Palma A, De Luca V, Romanzo A, Massella L, Emma F, Dello Strologo L.
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| Clin Nephrol 67(1):1-4.PMID: 17269592 2007
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| 7 | ONCR, PAX2
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| Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.
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| Fletcher J, Hu M, Berman Y, Collins F, Grigg J, McIver M, Juppner H, Alexander SI.
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| J Am Soc Nephrol 16(9):2754-61. Epub 2005 Jul 27. Review. 2005
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| 8 | AIC, AXR2, CCA, CDG1D, DHOF, DPYD, HPE2, JBTS1, MCIA, MCOPCB2, MKS1, MRXS28, NBCCS2, NS1, OFCD, ONCR, OOD1, OPD2, RBP4, RIEG1, RSTS, TCOF1, WLKWS1, ZEB2
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| Ocular coloboma: a reassessment in the age of molecular neuroscience.
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| Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.
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| J Med Genet 41(12):881-91. 2004
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| 9 | ONCR, PAX2
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| PAX2 mutations in oligomeganephronia.
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| Salomon R, Tellier AL, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler MC, Broyer M.
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| Kidney Int 59(2):457-62. 2001
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| 10 | ONCR, PAX2
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| Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.
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| Porteous S, Torban E, Cho NP, Cunliffe H, Chua L, McNoe L, Ward T, Souza C, Gus P, Giugliani R, Sato T, Yun K, Favor J, Sicotte M, Goodyer P, Eccles M.
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| Hum Mol Genet 9(1):1-11 2000
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| 11 | ONCR, PAX2
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| PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
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| Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Auge J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attie-Bitach T.
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| Eur J Hum Genet 8(11):820-6. 2000
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| 12 | ONCR, PAX2
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| Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.
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| Eccles MR, et al.
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| Clin Genet 56(1):1-9. 1999
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| 13 | ONCR, PAX2
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| Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal-Coloboma syndrome.
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| Schimmenti LA, et al.
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| Hum Mutat 14(5):369-376 1999
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| 14 | ONCR, PAX2
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| Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux.
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| Choi KL, et al.
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| J Med Genet 35 : 338-339. 1998
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| 15 | ONCR, PAX2
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| The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.
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| Cunliffe HE, et al.
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| J Med Genet 35 : 806-812. 1998
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| 16 | ONCR, PAX2
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| Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).
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| Devriendt K, et al.
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| Hum Genet 103 : 149-153. 1998
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| 17 | ONCR, PAX2
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| Localisation of a 10q breakpoint within the PAX2 gene in patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.
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| Narahara K, et al.
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| J Med Genet 34 : 213-216. 1997
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| 18 | ONCR, PAX2
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| Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.
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| Schimmenti LA, et al.
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| Am J Hum Genet 60 : 869-878. 1997
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| 19 | ONCR, PAX2
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| PAX2 mutation identified in a patient with renal-coloboma syndrome and vesicoureteric reflux (VUR) : analysis of 43 patients with coloboma and/or urogenital anormalies. (abstr)
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| Eccles MR, et al.
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| Am J Hum Genet 61 : A332. 1997
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| 20 | ONCR, PAX2
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| The PAX2 transcription factor is expressed in cystic and hyperproliferative dysplastic epithelial in human kidney malformations.
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| Winyard PJD, et al.
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| J Clin Invest 98 : 451-459. 1996
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| 21 | ONCR,PAX2
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| 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.
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| Favor J, et al.
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| Proc Natl Acad Sci U S A 93 : 13870-13875. 1996
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| 22 | ONCR, PAX2
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| Mutation of PAX2 in two siblings with renal-coloboma syndrome.
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| Sanyanusin P, et al.
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| Hum Mol Genet 4 : 2183-2184. 1995
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| 23 | ONCR, PAX2
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| Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
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| Schimmenti LA, et al.
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| Am J Med Genet 59 : 204-208. 1995
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| 24 | ONCR, PAX2
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| Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
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| Sanyanusin P, et al.
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| Nat Genet 9 : 358-363. 1995
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