558 related articles for article (PubMed ID: 11581073)
1. 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]
2. [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]
3. 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. PubMed ID: 11297491
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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; 18(4):656-8. PubMed ID: 18609495
[TBL] [Abstract][Full Text] [Related]
7. 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]
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. PubMed ID: 9106533
[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. 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]
11. Early diagnosis of the papillorenal syndrome by optic disc morphology.
Khan AO; Nowilaty SR
J Neuroophthalmol; 2005 Sep; 25(3):209-11. PubMed ID: 16148630
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 19839859
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Evaluation of congenital excavated optic disc anomalies with spectral-domain and swept-source optical coherence tomography.
Lee KM; Woo SJ; Hwang JM
Graefes Arch Clin Exp Ophthalmol; 2014 Nov; 252(11):1853-60. PubMed ID: 24906342
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. No colobomas in "renal coloboma" syndrome.
Parsa CF; Goldberg MF; Hunter DG
Ophthalmology; 2003 Feb; 110(2):251; author reply 251-2. PubMed ID: 12578762
[No Abstract] [Full Text] [Related]
19. 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]
20. A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.
Miyazawa T; Nakano M; Takemura Y; Miyazaki K; Yanagida H; Fujita S; Sugimoto K; Okada M; Takemura T
Clin Nephrol; 2009 Dec; 72(6):497-500. PubMed ID: 19954729
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]