Detalhe da pesquisa
1.
Medullary cystic kidney disease type 1 in a large Native-American kindred.
Am J Kidney Dis
; 44(4): 611-7, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15384011
2.
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.
Hum Genet
; 119(6): 649-58, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16738948
3.
Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage.
Nephrol Dial Transplant
; 20(5): 909-14, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15741201
4.
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
Kidney Int
; 64(5): 1580-7, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14531790
5.
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
J Am Soc Nephrol
; 15(3): 722-32, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14978175
6.
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.
Kidney Int
; 66(2): 564-70, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15253707
7.
Telomeric refinement of the MCKD1 locus on chromosome 1q21.
Kidney Int
; 66(2): 580-5, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15253709