213 related articles for article (PubMed ID: 12495287)
1. Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.
Gigante M; Monno F; Roberto R; Laforgia N; Assael MB; Livolti S; Caringella A; La Manna A; Masella L; Iolascon A
J Nephrol; 2002; 15(6):696-702. PubMed ID: 12495287
[TBL] [Abstract][Full Text] [Related]
2. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
Beltcheva O; Martin P; Lenkkeri U; Tryggvason K
Hum Mutat; 2001 May; 17(5):368-73. PubMed ID: 11317351
[TBL] [Abstract][Full Text] [Related]
3. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).
Hinkes BG; Mucha B; Vlangos CN; Gbadegesin R; Liu J; Hasselbacher K; Hangan D; Ozaltin F; Zenker M; Hildebrandt F;
Pediatrics; 2007 Apr; 119(4):e907-19. PubMed ID: 17371932
[TBL] [Abstract][Full Text] [Related]
4. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
Lenkkeri U; Männikkö M; McCready P; Lamerdin J; Gribouval O; Niaudet PM; Antignac C K; Kashtan CE; Homberg C; Olsen A; Kestilä M; Tryggvason K
Am J Hum Genet; 1999 Jan; 64(1):51-61. PubMed ID: 9915943
[TBL] [Abstract][Full Text] [Related]
5. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
6. Congenital nephrotic syndrome with a novel NPHS1 mutation.
Yoshizawa C; Kobayashi Y; Ikeuchi Y; Tashiro M; Kakegawa S; Watanabe T; Goto Y; Nakanishi K; Yoshikawa N; Arakawa H
Pediatr Int; 2016 Nov; 58(11):1211-1215. PubMed ID: 27882743
[TBL] [Abstract][Full Text] [Related]
7. Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.
Patrakka J; Kestilä M; Wartiovaara J; Ruotsalainen V; Tissari P; Lenkkeri U; Männikkö M; Visapää I; Holmberg C; Rapola J; Tryggvason K; Jalanko H
Kidney Int; 2000 Sep; 58(3):972-80. PubMed ID: 10972661
[TBL] [Abstract][Full Text] [Related]
8. Detection of the Finnish-type congenital nephrotic syndrome by restriction fragment length polymorphism and dual-color oligonucleotide ligation assays.
Romppanen EL; Mononen I
Clin Chem; 2000 Jun; 46(6 Pt 1):811-6. PubMed ID: 10839769
[TBL] [Abstract][Full Text] [Related]
9. Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.
Sako M; Nakanishi K; Obana M; Yata N; Hoshii S; Takahashi S; Wada N; Takahashi Y; Kaku Y; Satomura K; Ikeda M; Honda M; Iijima K; Yoshikawa N
Kidney Int; 2005 Apr; 67(4):1248-55. PubMed ID: 15780077
[TBL] [Abstract][Full Text] [Related]
10. Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1).
Kuusniemi AM; Qvist E; Sun Y; Patrakka J; Rönnholm K; Karikoski R; Jalanko H
Transplantation; 2007 May; 83(10):1316-23. PubMed ID: 17519780
[TBL] [Abstract][Full Text] [Related]
11. Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type.
Tikhomirov E; Voznesenskaya T; Tsygin A
Hum Genet; 2009 Apr; 125(3):334. PubMed ID: 19309778
[No Abstract] [Full Text] [Related]
12. TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.
Gigante M; Caridi G; Montemurno E; Soccio M; d'Apolito M; Cerullo G; Aucella F; Schirinzi A; Emma F; Massella L; Messina G; De Palo T; Ranieri E; Ghiggeri GM; Gesualdo L
Clin J Am Soc Nephrol; 2011 Jul; 6(7):1626-34. PubMed ID: 21734084
[TBL] [Abstract][Full Text] [Related]
13. [Congenital nephrotic syndrome].
Hattori M
Nihon Rinsho; 2004 Oct; 62(10):1861-6. PubMed ID: 15500131
[TBL] [Abstract][Full Text] [Related]
14. Genetic basis of nephrotic syndrome--review.
Obeidová H; Merta M; Reiterová J; Maixnerová D; Stekrová J; Rysavá R; Tesar V
Prague Med Rep; 2006; 107(1):5-16. PubMed ID: 16752799
[TBL] [Abstract][Full Text] [Related]
15. A missense mutation in the nephrin gene impairs membrane targeting.
Shimizu J; Tanaka H; Aya K; Ito S; Sado Y; Seino Y
Am J Kidney Dis; 2002 Oct; 40(4):697-703. PubMed ID: 12324903
[TBL] [Abstract][Full Text] [Related]
16. Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family.
Gigante M; Greco P; Defazio V; Lucci M; Margaglione M; Gesualdo L; Iolascon A
Prenat Diagn; 2005 May; 25(5):407-10. PubMed ID: 15906409
[TBL] [Abstract][Full Text] [Related]
17. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
Heeringa SF; Vlangos CN; Chernin G; Hinkes B; Gbadegesin R; Liu J; Hoskins BE; Ozaltin F; Hildebrandt F;
Nephrol Dial Transplant; 2008 Nov; 23(11):3527-33. PubMed ID: 18503012
[TBL] [Abstract][Full Text] [Related]
18. Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.
Wu LQ; Hu JJ; Xue JJ; Liang DS
Genet Mol Res; 2011 Oct; 10(4):2517-22. PubMed ID: 22009864
[TBL] [Abstract][Full Text] [Related]
19. NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
Guaragna MS; Cleto TL; Souza ML; Lutaif AC; de Castro LC; Penido MG; Maciel-Guerra AT; Belangero VM; Guerra-Junior G; De Mello MP
Nephrology (Carlton); 2016 Sep; 21(9):753-7. PubMed ID: 26560236
[TBL] [Abstract][Full Text] [Related]
20. Congenital nephrotic syndrome of the Finnish type is not associated with the Pax-2 gene despite the promising transgenic animal model.
Kestilä M; Männikkö M; Holmberg C; Tryggvason K; Peltonen L
Genomics; 1994 Feb; 19(3):570-2. PubMed ID: 8188301
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]