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Items: 1 to 20 of 124

1.

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. Epub 2012 Jan 31.

PMID:
22361651
2.

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.

3.

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
4.
5.

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
6.

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.

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.

8.

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
9.

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.

10.

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
11.

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
12.

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
13.

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
14.

Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.

Okumura T, Furuichi K, Higashide T, Sakurai M, Hashimoto S, Shinozaki Y, Hara A, Iwata Y, Sakai N, Sugiyama K, Kaneko S, Wada T.

PLoS One. 2015 Nov 16;10(11):e0142843. doi: 10.1371/journal.pone.0142843. eCollection 2015.

15.

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
16.

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. Epub 2007 Apr 1. No abstract available.

PMID:
17403695
17.

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.

18.

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
19.

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
20.

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

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