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2012
Z. H. Yu, Wang, D. J., Meng, D. C., Huang, J., and Nie, X. J., Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome, vol. 11, pp. 1460-1464, 2012.
Aya K, Tanaka H and Seino Y (2000). Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. Kidney Int. 57: 401-404. http://dx.doi.org/10.1046/j.1523-1755.2000.00859.x PMid:10652016   Heeringa SF, Vlangos CN, Chernin G, Hinkes B, et al. (2008). Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol. Dial. Transplant. 23: 3527-3533. http://dx.doi.org/10.1093/ndt/gfn271 PMid:18503012 PMCid:2720813   Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, et al. (2007). Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119: e907-e919. http://dx.doi.org/10.1542/peds.2006-2164 PMid:17371932   Ismaili K, Pawtowski A, Boyer O, Wissing KM, et al. (2009). Genetic forms of nephrotic syndrome: a single-center experience in Brussels. Pediatr. Nephrol. 24: 287-294. http://dx.doi.org/10.1007/s00467-008-0953-4 PMid:18709391   Jalanko H (2009). Congenital nephrotic syndrome. Pediatr. Nephrol. 24: 2121-2128. http://dx.doi.org/10.1007/s00467-007-0633-9 PMid:17968594 PMCid:2753773   Kestilä M, Lenkkeri U, Mannikko M, Lamerdin J, et al. (1998). Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol. Cell 1: 575-582. http://dx.doi.org/10.1016/S1097-2765(00)80057-X   Lahdenkari AT, Kestila M, Holmberg C, Koskimies O, et al. (2004). Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Kidney Int. 65: 1856-1863. http://dx.doi.org/10.1111/j.1523-1755.2004.00583.x PMid:15086927   Lee BH, Ahn YH, Choi HJ, Kang HK, et al. (2009). Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type. J. Korean Med. Sci. 24 (Suppl 1): S210-S214. http://dx.doi.org/10.3346/jkms.2009.24.S1.S210 PMid:19194555 PMCid:2633182   Lenkkeri U, Mannikko M, McCready P, Lamerdin J, et al. (1999). Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am. J. Hum. Genet. 64: 51-61. http://dx.doi.org/10.1086/302182 PMid:9915943 PMCid:1377702   Pätäri-Sampo A, Ihalmo P and Holthofer H (2006). Molecular basis of the glomerular filtration: nephrin and the emerging protein complex at the podocyte slit diaphragm. Ann. Med. 38: 483-492. http://dx.doi.org/10.1080/07853890600978149 PMid:17101539   Santín S, Garcia-Maset R, Ruiz P, Gimenez I, et al. (2009). Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. Kidney Int. 76: 1268-1276. http://dx.doi.org/10.1038/ki.2009.381 PMid:19812541   Schoeb DS, Chernin G, Heeringa SF, Matejas V, et al. (2010). Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol. Dial. Transplant. 25: 2970-2976. http://dx.doi.org/10.1093/ndt/gfq088 PMid:20172850 PMCid:2948833   Shi Y, Ding J, Liu JC, Wang H, et al. (2005). NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. Zhonghua Er Ke Za Zhi 43: 805-809. PMid:16316524   Wu LQ, Hu JJ, Xue JJ and Liang DS (2011). Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. Genet. Mol. Res. 10: 2517-2522. http://dx.doi.org/10.4238/2011.October.18.1 PMid:22009864