115 related articles for article (PubMed ID: 11594973)
1. Renal-coloboma syndrome in a Brazilian family.
Gus PI; de Souza CF; Porteous S; Eccles M; Giugliani R
Arch Ophthalmol; 2001 Oct; 119(10):1563-5. PubMed ID: 11594973
[No Abstract] [Full Text] [Related]
2. 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. PubMed ID: 14566649
[TBL] [Abstract][Full Text] [Related]
3. Papillorenal ("renal coloboma") syndrome.
Parsa CF; Goldberg MF; Hunter DG
Am J Ophthalmol; 2002 Aug; 134(2):300-1; author reply 301. PubMed ID: 12140054
[No Abstract] [Full Text] [Related]
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. PubMed ID: 11581073
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 7795640
[TBL] [Abstract][Full Text] [Related]
6. Renal-coloboma syndrome: report of a novel PAX2 gene mutation.
Chung GW; Edwards AO; Schimmenti LA; Manligas GS; Zhang YH; Ritter R
Am J Ophthalmol; 2001 Dec; 132(6):910-4. PubMed ID: 11730657
[TBL] [Abstract][Full Text] [Related]
7. Papillorenal syndrome in a Brazilian family.
Parsa CF; Goldberg MF; Hunter DG
Arch Ophthalmol; 2002 Dec; 120(12):1772-3; author reply 1773. PubMed ID: 12470164
[No Abstract] [Full Text] [Related]
8. 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; 59(2):204-8. PubMed ID: 8588587
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 11168927
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 9760197
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 15808183
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 9106533
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 10533062
[TBL] [Abstract][Full Text] [Related]
14. [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. PubMed ID: 12410411
[TBL] [Abstract][Full Text] [Related]
15. Mutation of PAX2 in two siblings with renal-coloboma syndrome.
Sanyanusin P; McNoe LA; Sullivan MJ; Weaver RG; Eccles MR
Hum Mol Genet; 1995 Nov; 4(11):2183-4. PubMed ID: 8589702
[No Abstract] [Full Text] [Related]
16. 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. PubMed ID: 17269592
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 16049068
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 11093271
[TBL] [Abstract][Full Text] [Related]
19. 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; 10(11):e0142843. PubMed ID: 26571382
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 9783702
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
