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Results: 1 to 20 of 112

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
[PubMed - indexed for MEDLINE]
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.

PMID:
9132492
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
4.

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]
5.

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]
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
[PubMed - indexed for MEDLINE]
7.

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
8.

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
9.

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]
10.

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
11.

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]
12.

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
13.

Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.

Parsa CF, Silva ED, Sundin OH, Goldberg MF, De Jong MR, Sunness JS, Zeimer R, Hunter DG.

Ophthalmology. 2001 Apr;108(4):738-49.

PMID:
11297491
[PubMed - indexed for MEDLINE]
14.

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]
15.

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB.

Am J Med Genet. 1995 Nov 6;59(2):204-8.

PMID:
8588587
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

A new syndrome of optic nerve colobomas and renal abnormalities associated with arthrogryposis multiplex.

Al-Gazali LI, Bakir M, Hamid ZM, Nair DK, Haas D, Amirlak I, Rushdi A.

Clin Dysmorphol. 2000 Jul;9(3):183-8.

PMID:
10955478
[PubMed - indexed for MEDLINE]
18.

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]
19.

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.

PMID:
21654726
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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]

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