446 related articles for article (PubMed ID: 11317351)
1. 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]
2. 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]
3. [Congenital nephrotic syndrome].
Hattori M
Nihon Rinsho; 2004 Oct; 62(10):1861-6. PubMed ID: 15500131
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
Liu L; Doné SC; Khoshnoodi J; Bertorello A; Wartiovaara J; Berggren PO; Tryggvason K
Hum Mol Genet; 2001 Nov; 10(23):2637-44. PubMed ID: 11726550
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Molecular basis of steroid-resistant nephrotic syndrome.
Antignac C
Nefrologia; 2005; 25 Suppl 2():25-8. PubMed ID: 16050398
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
Hertz JM; Juncker I; Persson U; Matthijs G; Schmidtke J; Petersen MB; Kjeldsen M; Gregersen N
Hum Mutat; 2001 Aug; 18(2):141-8. PubMed ID: 11462238
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Péquignot MO; Dey R; Zeviani M; Tiranti V; Godinot C; Poyau A; Sue C; Di Mauro S; Abitbol M; Marsac C
Hum Mutat; 2001 May; 17(5):374-81. PubMed ID: 11317352
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Gao HZ; Kobayashi K; Tabata A; Tsuge H; Iijima M; Yasuda T; Kalkanoglu HS; Dursun A; Tokatli A; Coskun T; Trefz FK; Skladal D; Mandel H; Seidel J; Kodama S; Shirane S; Ichida T; Makino S; Yoshino M; Kang JH; Mizuguchi M; Barshop BA; Fuchinoue S; Seneca S; Zeesman S; Knerr I; Rodés M; Wasant P; Yoshida I; De Meirleir L; Abdul Jalil M; Begum L; Horiuchi M; Katunuma N; Nakagawa S; Saheki T
Hum Mutat; 2003 Jul; 22(1):24-34. PubMed ID: 12815590
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
