Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 205

1.

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.

2.

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
3.

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.

4.

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
5.

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

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.

Hum Mol Genet. 2000 Jan 1;9(1):1-11.

PMID:
10587573
6.

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
7.

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
8.
9.

Rescue of defective branching nephrogenesis in renal-coloboma syndrome by the caspase inhibitor, Z-VAD-fmk.

Clark P, Dziarmaga A, Eccles M, Goodyer P.

J Am Soc Nephrol. 2004 Feb;15(2):299-305.

10.

Ureteric bud apoptosis and renal hypoplasia in transgenic PAX2-Bax fetal mice mimics the renal-coloboma syndrome.

Dziarmaga A, Clark P, Stayner C, Julien JP, Torban E, Goodyer P, Eccles M.

J Am Soc Nephrol. 2003 Nov;14(11):2767-74.

11.

PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.

Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Augé J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attié-Bitach T.

Eur J Hum Genet. 2000 Nov;8(11):820-6.

12.

Papillorenal ("renal coloboma") syndrome.

Parsa CF, Goldberg MF, Hunter DG.

Am J Ophthalmol. 2002 Aug;134(2):300-1; author reply 301. No abstract available.

PMID:
12140054
13.

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
14.

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
15.

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
16.

Pax2 in development and renal disease.

Dressler GR, Woolf AS.

Int J Dev Biol. 1999;43(5):463-8. Review.

17.

Genomic structure of the human PAX2 gene.

Sanyanusin P, Norrish JH, Ward TA, Nebel A, McNoe LA, Eccles MR.

Genomics. 1996 Jul 1;35(1):258-61.

PMID:
8661132
18.

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.

19.

Identification of two single nucleotide polymorphisms in exon 8 of PAX2.

Shim HH, Nakamura BN, Cantor RM, Schimmenti LA.

Mol Genet Metab. 1999 Dec;68(4):507-10.

PMID:
10607481
20.

WT1 is a modifier of the Pax2 mutant phenotype: cooperation and interaction between WT1 and Pax2.

Discenza MT, He S, Lee TH, Chu LL, Bolon B, Goodyer P, Eccles M, Pelletier J.

Oncogene. 2003 Nov 6;22(50):8145-55.

PMID:
14603255

Supplemental Content

Support Center