Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic

scientific article

Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1186/1471-2369-13-79
P932PMC publication ID3502417
P698PubMed publication ID22863349
P5875ResearchGate publication ID230618468

P50authorFiona E Karet FranklQ124219421
P2093author name stringRichard N Sandford
Sarah Waller
Thomas F Hiemstra
Caroline Robinson
Deborah Spencer
Laura Daboo
P2860cites workA spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)Q24678335
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney diseaseQ28345772
Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study GroupQ33852423
Treatment strategies and clinical trial design in ADPKDQ34024396
Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney diseaseQ34388968
Potentially modifiable factors affecting the progression of autosomal dominant polycystic kidney disease.Q34858052
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.Q35153173
Analysis of serial measurements in medical researchQ35167613
Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).Q35661408
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.Q36158405
Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitationsQ36666944
Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney diseaseQ36788898
Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).Q39812019
Unified criteria for ultrasonographic diagnosis of ADPKD.Q41829694
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney diseaseQ42927109
Family history of renal disease severity predicts the mutated gene in ADPKD.Q43074229
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney diseaseQ44411513
Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohortQ44545045
Identification of patients with autosomal dominant polycystic kidney disease at highest risk for end-stage renal disease.Q44983511
Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2.Q50992887
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.Q54101556
The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal DiseaseQ56673280
Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patientsQ63434632
Genetic Heterogeneity of Polycystic Kidney Disease in Europe1Q68212928
Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney diseaseQ79226021
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney diseaseQ80507407
Volume progression in polycystic kidney diseaseQ94478608
P921main subjectpolycystic kidney diseaseQ60195313
P304page(s)79
P577publication date2012-08-03
P1433published inBMC NephrologyQ15750891
P1476titleClinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic
P478volume13

Reverse relations

cites work (P2860)
Q38072284Diagnosis and management of polycystic liver disease
Q64269744Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease
Q35505201Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease
Q44009665Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease
Q28088794The role of an out-patient renal clinic in renal disease management

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