Detalhe da pesquisa
1.
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Nat Genet
; 37(3): 282-8, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15723066
2.
Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion.
Pediatr Nephrol
; 26(6): 967-71, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21258817
3.
Prevalence of Capsular Serotype, Pilus Island Distribution, and Antibiotic Resistance in Pediatric and Adult Invasive Group B Streptococcus Isolates: Data From a Nationwide Prospective Surveillance Study in Germany.
Pediatr Infect Dis J
; 40(1): 76-82, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33201062
4.
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Hum Mutat
; 25(4): 411, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15776426
5.
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
6.
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
7.
A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2.
J Am Soc Nephrol
; 14(6): 1519-22, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12761252
8.
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