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Items: 1 to 20 of 133

1.

Renal hypoplasia without optic coloboma associated with PAX2 gene deletion.

Benetti E, Artifoni L, Salviati L, Pinello L, Perrotta S, Zuffardi O, Zacchello G, Murer L.

Nephrol Dial Transplant. 2007 Jul;22(7):2076-8. No abstract available.

2.

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
3.

Renal-coloboma syndrome: report of a novel PAX2 gene mutation.

Chung GW, Edwards AO, Schimmenti LA, Manligas GS, Zhang YH, Ritter R 3rd.

Am J Ophthalmol. 2001 Dec;132(6):910-4.

PMID:
11730657
4.

Renal coloboma syndrome.

Dureau P, Attie-Bitach T, Salomon R, Bettembourg O, Amiel J, Uteza Y, Dufier JL.

Ophthalmology. 2001 Oct;108(10):1912-6.

PMID:
11581073
5.

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. Review.

6.

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.

Narahara K, Baker E, Ito S, Yokoyama Y, Yu S, Hewitt D, Sutherland GR, Eccles MR, Richards RI.

J Med Genet. 1997 Mar;34(3):213-6.

7.

Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation.

Samimi S, Antignac C, Combe C, Lacombe D, Renaud Rougier MB, Korobelnik JF.

Eur J Ophthalmol. 2008 Jul-Aug;18(4):656-8.

PMID:
18609495
8.
9.

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.

Hoefele J, Gabert M, Heinrich U, Benz K, Rompel O, Rost I, Klein HG, Kunstmann E.

Eur J Med Genet. 2012 Mar;55(3):211-5. doi: 10.1016/j.ejmg.2012.01.011.

PMID:
22361651
10.

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
11.

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.

12.

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
13.

A clinico-genetic study of renal coloboma syndrome in children.

Cheong HI, Cho HY, Kim JH, Yu YS, Ha IS, Choi Y.

Pediatr Nephrol. 2007 Sep;22(9):1283-9.

PMID:
17541647
14.

PAX2 mutations in fetal renal hypodysplasia.

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.

Am J Med Genet A. 2010 Apr;152A(4):830-5. doi: 10.1002/ajmg.a.33133.

PMID:
20358591
15.

A common variant of the PAX2 gene is associated with reduced newborn kidney size.

Quinlan J, Lemire M, Hudson T, Qu H, Benjamin A, Roy A, Pascuet E, Goodyer M, Raju C, Zhang Z, Houghton F, Goodyer P.

J Am Soc Nephrol. 2007 Jun;18(6):1915-21.

16.

PAX2 gene mutation in a family with isolated renal hypoplasia.

Nishimoto K, Iijima K, Shirakawa T, Kitagawa K, Satomura K, Nakamura H, Yoshikawa N.

J Am Soc Nephrol. 2001 Aug;12(8):1769-72.

17.

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
18.

A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.

Miyazawa T, Nakano M, Takemura Y, Miyazaki K, Yanagida H, Fujita S, Sugimoto K, Okada M, Takemura T.

Clin Nephrol. 2009 Dec;72(6):497-500.

PMID:
19954729
19.

New ocular phenotype associated with a mutation in the PAX2 gene.

Beby F, Roche O, Cochat P, Ranchin B, Kohler R, Bonifas C, Cordier MP, Attie-Bitach T, Burillon C, Denis P.

Eye (Lond). 2010 Jul;24(7):1293-4. doi: 10.1038/eye.2009.330. No abstract available.

PMID:
20075965
20.

Diagnosing papillorenal syndrome: see the optic papilla.

Parsa CF, Parsa A.

Pediatr Nephrol. 2008 Oct;23(10):1893-4. doi: 10.1007/s00467-008-0870-6. No abstract available.

PMID:
18512081
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