Detalhe da pesquisa
1.
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
Am J Hum Genet
; 97(2): 291-301, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26235987
2.
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Kidney Int
; 91(4): 937-947, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28117080
3.
Urinary tract effects of HPSE2 mutations.
J Am Soc Nephrol
; 26(4): 797-804, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25145936
4.
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
Dev Med Child Neurol
; 55(9): 846-56, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23924083
5.
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
N Engl J Med
; 360(19): 1960-70, 2009 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-19420365
6.
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.
J Physiol
; 589(Pt 7): 1681-9, 2011 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21300747
7.
Toll-like receptor responses of normal human urothelial cells to bacterial flagellin and lipopolysaccharide.
J Urol
; 186(3): 1084-92, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21784459
8.
Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux.
J Am Soc Nephrol
; 21(1): 113-23, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19959718
9.
The long-term outcome of prenatally detected posterior urethral valves: a 10 to 23-year follow-up study.
BJU Int
; 102(8): 1020-4, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18485035
10.
Mineral metabolism and vascular damage in children on dialysis.
J Am Soc Nephrol
; 18(11): 2996-3003, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17942964
11.
A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.
Mol Genet Genomic Med
; 3(6): 543-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26740946
12.
Successful outcome of paediatric en bloc kidney transplantation from the youngest donation-after-cardiac-death donor in the United Kingdom.
Transpl Int
; 22(7): 761-2, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19309478
13.
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
Clin J Am Soc Nephrol
; 8(4): 637-48, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23349334
14.
Primary, nonsyndromic vesicoureteric reflux and nephropathy in sibling pairs: a United Kingdom cohort for a DNA bank.
Clin J Am Soc Nephrol
; 6(4): 760-6, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21441121
15.
Expression and localisation of aquaporin water channels in human urothelium in situ and in vitro.
Eur Urol
; 56(6): 1013-23, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18718702
16.
Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations.
J Pediatr Urol
; 3(1): 2-9, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17476318
17.
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
Am J Hum Genet
; 80(4): 616-32, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17357069
18.
Mutation analyses of Uroplakin II in children with renal tract malformations.
Nephrol Dial Transplant
; 21(12): 3415-21, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17012268
19.
De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.
J Am Soc Nephrol
; 16(7): 2141-9, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15888565
20.
Recent insights into kidney diseases associated with glomerular cysts.
Pediatr Nephrol
; 17(4): 229-35, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11956871