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Results: 1 to 20 of 118

Related Citations for PubMed (Select 20943750)

1.

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.

Cross SH, McKie L, West K, Coghill EL, Favor J, Bhattacharya S, Brown SD, Jackson IJ.

Hum Mol Genet. 2011 Jan 15;20(2):223-34. doi: 10.1093/hmg/ddq457. Epub 2010 Oct 13.

2.

Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.

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.

PLoS Genet. 2010 Mar 5;6(3):e1000870. doi: 10.1371/journal.pgen.1000870.

3.

Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26).

Aydin B, Dilli D, Beken S, Zenciroglu A, Uzunalic N, Yuksekkaya P, Akyuz SG, Aydog O, Okumus N.

Genet Couns. 2013;24(2):201-5.

PMID:
24032291
4.

Renal coloboma syndrome.

Schimmenti LA.

Eur J Hum Genet. 2011 Dec;19(12):1207-12. doi: 10.1038/ejhg.2011.102. Epub 2011 Jun 8. Review.

5.

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

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.

Hum Mutat. 2012 Mar;33(3):457-66. doi: 10.1002/humu.22020. Epub 2012 Jan 31.

PMID:
22213154
6.

Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.

Iatropoulos P, Daina E, Mele C, Maranta R, Remuzzi G, Noris M.

Pediatr Nephrol. 2012 Oct;27(10):1989-93. doi: 10.1007/s00467-012-2205-x. Epub 2012 Jun 4.

PMID:
22660956
7.

Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.

Laimutis K, Jackson C, Xu X, Warman B, Sarunas R, Andriuskeviciute I, Birute P, Schimmenti LA, Raca G.

Am J Med Genet A. 2012 Jun;158A(6):1437-41. doi: 10.1002/ajmg.a.35342. Epub 2012 May 11.

8.

Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

Devriendt K, Matthijs G, Van Damme B, Van Caesbroeck D, Eccles M, Vanrenterghem Y, Fryns JP, Leys A.

Hum Genet. 1998 Aug;103(2):149-53.

PMID:
9760197
9.

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.

Favor J, Sandulache R, Neuhäuser-Klaus A, Pretsch W, Chatterjee B, Senft E, Wurst W, Blanquet V, Grimes P, Spörle R, Schughart K.

Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):13870-5.

10.

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.

Eccles MR, Schimmenti LA.

Clin Genet. 1999 Jul;56(1):1-9. Review.

PMID:
10466411
11.

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR.

Nat Genet. 1995 Apr;9(4):358-64. Erratum in: Nat Genet. 1996 May;13(1):129.

PMID:
7795640
12.

Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype.

Taranta A, Palma A, De Luca V, Romanzo A, Massella L, Emma F, Dello Strologo L.

Clin Nephrol. 2007 Jan;67(1):1-4.

PMID:
17269592
13.

Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.

Fletcher J, Hu M, Berman Y, Collins F, Grigg J, McIver M, Jüppner H, Alexander SI.

J Am Soc Nephrol. 2005 Sep;16(9):2754-61. Epub 2005 Jul 27. Review.

14.

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

Schimmenti LA, Shim HH, Wirtschafter JD, Panzarino VA, Kashtan CE, Kirkpatrick SJ, Wargowski DS, France TD, Michel E, Dobyns WB.

Hum Mutat. 1999;14(5):369-76.

PMID:
10533062
15.

[Renal-coloboma syndrome].

Asensio Sánchez VM, Corral Azor A, Bartolomé Aragón A, De Paz García M.

Arch Soc Esp Oftalmol. 2002 Nov;77(11):635-8. Spanish.

16.

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR.

Am J Hum Genet. 1997 Apr;60(4):869-78.

17.

Alport-like glomerular basement membrane changes with renal-coloboma syndrome.

Ohtsubo H, Morisada N, Kaito H, Nagatani K, Nakanishi K, Iijima K.

Pediatr Nephrol. 2012 Jul;27(7):1189-92. doi: 10.1007/s00467-012-2125-9. Epub 2012 Feb 21.

PMID:
22350371
18.

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR.

J Med Genet. 1998 Oct;35(10):806-12.

19.

Papillorenal syndrome after Beta-interferon treatment in pregnancy.

Gucev ZS, Kirovski I, Jancevska A, Popjordanova N, Tasic V.

Ren Fail. 2009;31(7):602-5.

PMID:
19839859
20.

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.

Bower M, Eccles M, Heidet L, Schimmenti LA.

Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.16. Epub 2011 Feb 16. No abstract available.

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