197 related articles for article (PubMed ID: 20358591)
1. 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. PubMed ID: 20358591
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Ocular phenotype in a patient with
Benador-Shen CL; Reichel E; Reed D; Milner LS; Pinnell N; Choi CS
Ophthalmic Genet; 2022 Jun; 43(3):385-388. PubMed ID: 34889688
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. 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]
8. 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; 9(1):1-11. PubMed ID: 10587573
[TBL] [Abstract][Full Text] [Related]
9. PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.
Negrisolo S; Benetti E; Centi S; Della Vella M; Ghirardo G; Zanon GF; Murer L; Artifoni L
Clin Genet; 2011 Dec; 80(6):581-5. PubMed ID: 21108633
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 16049068
[TBL] [Abstract][Full Text] [Related]
11. Renal coloboma syndrome.
Schimmenti LA
Eur J Hum Genet; 2011 Dec; 19(12):1207-12. PubMed ID: 21654726
[TBL] [Abstract][Full Text] [Related]
12. Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication.
Liu J; Wang P; Huang J; Yu Z
Gene; 2018 Jan; 641():74-77. PubMed ID: 29054766
[TBL] [Abstract][Full Text] [Related]
13. A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease.
Saida K; Kamei K; Morisada N; Ogura M; Ogata K; Matsuoka K; Nozu K; Iijima K; Ito S
CEN Case Rep; 2020 Feb; 9(1):19-23. PubMed ID: 31538321
[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. 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]
16. 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]
17. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
Weber S; Moriniere V; Knüppel T; Charbit M; Dusek J; Ghiggeri GM; Jankauskiené A; Mir S; Montini G; Peco-Antic A; Wühl E; Zurowska AM; Mehls O; Antignac C; Schaefer F; Salomon R
J Am Soc Nephrol; 2006 Oct; 17(10):2864-70. PubMed ID: 16971658
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 17541647
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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):1769-1772. PubMed ID: 11461952
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
