Search details
1.
Defects of CRB2 cause steroid-resistant nephrotic syndrome.
Am J Hum Genet
; 96(1): 153-61, 2015 Jan 08.
Article
in English
| MEDLINE | ID: mdl-25557779
2.
Mutations in EMP2 cause childhood-onset nephrotic syndrome.
Am J Hum Genet
; 94(6): 884-90, 2014 Jun 05.
Article
in English
| MEDLINE | ID: mdl-24814193
3.
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Brain
; 138(Pt 8): 2173-90, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26070982
4.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol
; 26(6): 1279-89, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25349199
5.
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Hum Mutat
; 36(11): 1021-8, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26123727
6.
Response to cyclosporine in steroid-resistant nephrotic syndrome: discontinuation is possible.
Pediatr Nephrol
; 30(9): 1477-83, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-25903641
7.
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Nat Commun
; 9(1): 1960, 2018 05 17.
Article
in English
| MEDLINE | ID: mdl-29773874
8.
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Clin J Am Soc Nephrol
; 13(1): 53-62, 2018 01 06.
Article
in English
| MEDLINE | ID: mdl-29127259
9.
BRCA1/2 missense mutations and the value of in-silico analyses.
Eur J Med Genet
; 60(11): 572-577, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-28807866
10.
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
J Clin Invest
; 127(3): 912-928, 2017 Mar 01.
Article
in English
| MEDLINE | ID: mdl-28165339
11.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Nat Genet
; 49(10): 1529-1538, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28805828
12.
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
Nat Genet
; 48(4): 457-65, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26878725
13.
FAT1 mutations cause a glomerulotubular nephropathy.
Nat Commun
; 7: 10822, 2016 Feb 24.
Article
in English
| MEDLINE | ID: mdl-26905694
14.
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
J Clin Invest
; 125(6): 2375-84, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25961457
15.
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
Clin J Am Soc Nephrol
; 9(6): 1109-16, 2014 Jun 06.
Article
in English
| MEDLINE | ID: mdl-24742477
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