These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Hasselbacher K; Wiggins RC; Matejas V; Hinkes BG; Mucha B; Hoskins BE; Ozaltin F; Nürnberg G; Becker C; Hangan D; Pohl M; Kuwertz-Bröking E; Griebel M; Schumacher V; Royer-Pokora B; Bakkaloglu A; Nürnberg P; Zenker M; Hildebrandt F Kidney Int; 2006 Sep; 70(6):1008-12. PubMed ID: 16912710 [TBL] [Abstract][Full Text] [Related]
4. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Hinkes B; Wiggins RC; Gbadegesin R; Vlangos CN; Seelow D; Nürnberg G; Garg P; Verma R; Chaib H; Hoskins BE; Ashraf S; Becker C; Hennies HC; Goyal M; Wharram BL; Schachter AD; Mudumana S; Drummond I; Kerjaschki D; Waldherr R; Dietrich A; Ozaltin F; Bakkaloglu A; Cleper R; Basel-Vanagaite L; Pohl M; Griebel M; Tsygin AN; Soylu A; Müller D; Sorli CS; Bunney TD; Katan M; Liu J; Attanasio M; O'toole JF; Hasselbacher K; Mucha B; Otto EA; Airik R; Kispert A; Kelley GG; Smrcka AV; Gudermann T; Holzman LB; Nürnberg P; Hildebrandt F Nat Genet; 2006 Dec; 38(12):1397-405. PubMed ID: 17086182 [TBL] [Abstract][Full Text] [Related]
5. Filtering the genes and sorting the glomerular filter: a new piece in the puzzle? Kleta R; Klootwijk E; Stanescu H; Bockenhauer D Nephrol Dial Transplant; 2011 Sep; 26(9):2743-5. PubMed ID: 21926407 [No Abstract] [Full Text] [Related]
6. Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa. Hata D; Miyazaki M; Seto S; Kadota E; Muso E; Takasu K; Nakano A; Tamai K; Uitto J; Nagata M; Moriyama K; Miyazaki K Pediatrics; 2005 Oct; 116(4):e601-7. PubMed ID: 16147969 [TBL] [Abstract][Full Text] [Related]
7. Unusual histological findings in a child with idiopathic nephrotic syndrome. Springate J; Nadasdy T Pediatr Nephrol; 2007 Mar; 22(3):451-3. PubMed ID: 17077973 [TBL] [Abstract][Full Text] [Related]
8. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Boute N; Gribouval O; Roselli S; Benessy F; Lee H; Fuchshuber A; Dahan K; Gubler MC; Niaudet P; Antignac C Nat Genet; 2000 Apr; 24(4):349-54. PubMed ID: 10742096 [TBL] [Abstract][Full Text] [Related]
9. Foothold of NPHS2 mutations in primary nephrotic syndrome. Jaffer AT; Ahmed WU; Raju DS; Jahan P J Postgrad Med; 2011; 57(4):314-20. PubMed ID: 22120861 [TBL] [Abstract][Full Text] [Related]
10. [Molecular genetics in nephrology. Genetic kidney diseases provide clues for understanding the pathogenesis of proteinuria]. Huber TB; Benzing T Ther Umsch; 2003 Aug; 60(8):435-7. PubMed ID: 14502849 [TBL] [Abstract][Full Text] [Related]
11. In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. Zhang SY; Marlier A; Gribouval O; Gilbert T; Heidet L; Antignac C; Gubler MC Kidney Int; 2004 Sep; 66(3):945-54. PubMed ID: 15327385 [TBL] [Abstract][Full Text] [Related]
12. [Slit diaphragm of glomerular filtration: diagnostic and therapeutic approach in nephrotic syndrome]. Arrizabalaga P Nefrologia; 2005; 25(4):361-2, 364-8. PubMed ID: 16231501 [No Abstract] [Full Text] [Related]
13. [LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia]. Zurowska A; Załuska-Leśniewska I; Zenker M Przegl Lek; 2006; 63 Suppl 3():37-9. PubMed ID: 16898484 [TBL] [Abstract][Full Text] [Related]
17. Nephrotic syndrome in a dish: recent developments in modeling in vitro. Veissi S; Smeets B; van den Heuvel LP; Schreuder MF; Jansen J Pediatr Nephrol; 2020 Aug; 35(8):1363-1372. PubMed ID: 30820702 [TBL] [Abstract][Full Text] [Related]
18. New insights into the molecular biology of the glomerular filtration barrier and associated disease. Levidiotis V; Power DA Nephrology (Carlton); 2005 Apr; 10(2):157-66. PubMed ID: 15877676 [TBL] [Abstract][Full Text] [Related]
19. A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background. Falcone S; Nicol T; Blease A; Randles MJ; Angus E; Page A; Tam FWK; Pusey CD; Lennon R; Potter PK Kidney Int; 2022 Mar; 101(3):527-540. PubMed ID: 34774562 [TBL] [Abstract][Full Text] [Related]
20. Variable phenotype of Pierson syndrome. Choi HJ; Lee BH; Kang JH; Jeong HJ; Moon KC; Ha IS; Yu YS; Matejas V; Zenker M; Choi Y; Cheong HI Pediatr Nephrol; 2008 Jun; 23(6):995-1000. PubMed ID: 18278520 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]