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Results: 1 to 20 of 178

1.

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.

PMID:
11461952
[PubMed - indexed for MEDLINE]
Free Article
2.

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
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
4.

PAX2 mutations in oligomeganephronia.

Salomon R, Tellier AL, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler MC, Broyer M.

Kidney Int. 2001 Feb;59(2):457-62.

PMID:
11168927
[PubMed - indexed for MEDLINE]
Free Article
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
9106533
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
9783702
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.

Schimmenti LA, Manligas GS, Sieving PA.

Ophthalmic Genet. 2003 Dec;24(4):191-202.

PMID:
14566649
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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.

PMID:
16049068
[PubMed - indexed for MEDLINE]
Free Article
14.

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.

PMID:
11093271
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome.

Yoshimura K, Yoshida S, Yamaji Y, Komori A, Yoshida A, Hatae K, Kubota T, Ishibashi T.

Am J Ophthalmol. 2005 Apr;139(4):733-5.

PMID:
15808183
[PubMed - indexed for MEDLINE]
18.

[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.

PMID:
12410411
[PubMed - indexed for MEDLINE]
Free Article
19.

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
[PubMed - indexed for MEDLINE]
20.

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. Epub 2007 May 31.

PMID:
17541647
[PubMed - indexed for MEDLINE]
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