| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.
|
Ann Intern Med
|
2004
|
3.32
|
|
2
|
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
|
Kidney Int
|
2009
|
2.99
|
|
3
|
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.
|
Diabetes
|
2005
|
1.79
|
|
4
|
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.
|
J Am Soc Nephrol
|
2003
|
1.77
|
|
5
|
A complete mutation screen of the ADPKD genes by DHPLC.
|
Kidney Int
|
2002
|
1.66
|
|
6
|
Enzyme replacement therapy in Anderson-Fabry's disease: beneficial clinical effect on vital organ function.
|
Nephrol Dial Transplant
|
2003
|
1.60
|
|
7
|
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.
|
Lancet
|
2003
|
1.47
|
|
8
|
Steroid-sensitive nephrotic syndrome: from childhood to adulthood.
|
Am J Kidney Dis
|
2003
|
1.28
|
|
9
|
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.
|
Hum Mol Genet
|
2005
|
1.22
|
|
10
|
The expanding spectrum of renal diseases associated with antiphospholipid syndrome.
|
Am J Kidney Dis
|
2003
|
1.21
|
|
11
|
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
|
Hum Mutat
|
2004
|
1.13
|
|
12
|
Management of cerebral aneurysms in autosomal dominant polycystic kidney disease.
|
J Am Soc Nephrol
|
2002
|
1.12
|
|
13
|
The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation.
|
J Am Soc Nephrol
|
2003
|
1.08
|
|
14
|
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
|
Kidney Int
|
2011
|
1.07
|
|
15
|
Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.
|
Orphanet J Rare Dis
|
2014
|
1.06
|
|
16
|
Oxalate nephropathy associated with chronic pancreatitis.
|
Clin J Am Soc Nephrol
|
2011
|
1.06
|
|
17
|
Renal involvement in cystic fibrosis: diseases spectrum and clinical relevance.
|
Clin J Am Soc Nephrol
|
2009
|
1.04
|
|
18
|
Localized amyloidosis of the genitourinary tract: report of 5 new cases and review of the literature.
|
Medicine (Baltimore)
|
2011
|
0.97
|
|
19
|
Comparison between siblings and twins supports a role for modifier genes in ADPKD.
|
Kidney Int
|
2004
|
0.96
|
|
20
|
Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion.
|
Am J Kidney Dis
|
2007
|
0.90
|
|
21
|
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
|
Clin J Am Soc Nephrol
|
2012
|
0.84
|
|
22
|
Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.
|
Clin J Am Soc Nephrol
|
2010
|
0.84
|
|
23
|
Nephron sparing surgery for renal cell carcinoma and von Hippel-Lindau's disease: a single center experience.
|
J Urol
|
2003
|
0.84
|
|
24
|
Mycobacterial-immune reconstitution inflammatory syndrome: a cause of acute interstitial nephritis during HIV infection.
|
Nephrol Dial Transplant
|
2011
|
0.82
|
|
25
|
Mesangial IgG glomerulonephritis: a distinct type of primary glomerulonephritis.
|
J Am Soc Nephrol
|
2002
|
0.82
|
|
26
|
A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.
|
Eur J Med Genet
|
2011
|
0.81
|
|
27
|
Hnf-1β transcription factor is an early hif-1α-independent marker of epithelial hypoxia and controls renal repair.
|
PLoS One
|
2013
|
0.80
|
|
28
|
Crystals from fat. Acute oxalate nephropathy.
|
Nephrol Dial Transplant
|
2002
|
0.80
|
|
29
|
End-stage renal failure in Lowe syndrome.
|
Nephrol Dial Transplant
|
2003
|
0.79
|
|
30
|
Impact of growth hormone hypersecretion on the adult human kidney.
|
Ann Endocrinol (Paris)
|
2011
|
0.78
|
|
31
|
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood.
|
Nephrol Dial Transplant
|
2009
|
0.78
|
|
32
|
Risk Factors for Autoimmune Diseases Development After Thrombotic Thrombocytopenic Purpura.
|
Medicine (Baltimore)
|
2015
|
0.78
|
|
33
|
A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.
|
Eur J Med Genet
|
2011
|
0.77
|
|
34
|
Expression of renal cystic genes in patients with HNF1B mutations.
|
Nephron Clin Pract
|
2012
|
0.77
|
|
35
|
Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal dominant polycystic kidney disease.
|
Nephrol Dial Transplant
|
2003
|
0.77
|
|
36
|
The ERA-EDTA Working Group on inherited kidney disorders.
|
Nephrol Dial Transplant
|
2012
|
0.76
|
|
37
|
Mutations in the RARE and MARE regulatory sequences of HNF1β are not a frequent cause of kidney/urinary tract malformation.
|
NDT Plus
|
2009
|
0.75
|
|
38
|
Polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes (POEMS) syndrome refractory to complete serum vascular endothelial growth factor (VEGF) blockade: insights from sequential VEGF monitoring.
|
NDT Plus
|
2009
|
0.75
|
|
39
|
Enos polymorphism and renal disease progression in autosomal dominant polycystic kidney disease.
|
Am J Kidney Dis
|
2003
|
0.75
|
|
40
|
Acquired factor VIII haemophilia following influenza vaccination.
|
Eur J Clin Pharmacol
|
2010
|
0.75
|
|
41
|
[Acute pancreatitis and thrombotic microangiopathy: a two-way association].
|
Nephrol Ther
|
2011
|
0.75
|
|
42
|
[Hereditary renal cell carcinoma: results and place of conventional conservative surgery].
|
Prog Urol
|
2003
|
0.75
|
|
43
|
Calcineurin Inhibitors Downregulate HNF-1β and May Affect the Outcome of HNF1B Patients After Renal Transplantation.
|
Transplantation
|
2016
|
0.75
|
|
44
|
[Renal transplantation in patients with autosomal dominant polycystic kidney disease: pre-transplantation evaluation and follow-up].
|
Nephrol Ther
|
2007
|
0.75
|
|
45
|
Anderson-Fabry disease: its place among other genetic causes of renal disease.
|
J Am Soc Nephrol
|
2002
|
0.75
|
|
46
|
[Autosomal dominant polycystic kidney disease].
|
Rev Prat
|
2014
|
0.75
|
|
47
|
Incidence and outcome of lupus nephritis in French Polynesia
.
|
Clin Nephrol
|
2017
|
0.75
|
|
48
|
Rituximab-cyclophosphamide-dexamethasone is highly effective in patients with monoclonal Ig deposit-related glomerulopathy and indolent non-Hodgkin lymphomas.
|
Am J Hematol
|
2014
|
0.75
|
|
49
|
Recovery of acute renal failure and nephrotic syndrome following autologous stem cell transplantation for primary (AL) amyloidosis.
|
Nephrol Dial Transplant
|
2003
|
0.75
|
|
50
|
Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)?
|
Eur J Med Genet
|
2012
|
0.75
|