Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity
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FSGS: Diagnosis and Diagnostic Work-UpThe non-immunosuppressive management of childhood nephrotic syndromeMorphology in the Digital Age: Integrating High-Resolution Description of Structural Alterations With Phenotypes and GenotypesBiallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic SyndromeThrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.Screening of WT1 mutations in exon 8 and 9 in children with steroid resistant nephrotic syndrome from a single centre and establishment of a rapid screening assay using high-resolution melting analysis in a clinical setting.Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic SyndromeUsing Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Contribution of the TTC21B gene to glomerular and cystic kidney diseases.Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomicsDoes copy number variation of APOL1 gene affect the susceptibility to focal segmental glomerulosclerosis?The UMOD Locus: Insights into the Pathogenesis and Prognosis of Kidney Disease.Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.Inverted formins: A subfamily of atypical formins.Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.Meeting report of the 2017 KidGen Renal Genetics Symposium.Rare Renal Diseases Can Be Used as Tools to Investigate Common Kidney Disorders.Clinical Aspects of WT1 and the Kidney.Steroid-resistant nephrotic syndrome caused by novel WT1 mutation inherited from a mosaic parent.Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis.NUP107 mutations in children with steroid-resistant nephrotic syndrome.
P2860
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P2860
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity
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2014 nî lūn-bûn
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2014年論文
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name
Targeted next-generation seque ...... may influence disease severity
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Targeted next-generation seque ...... may influence disease severity
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type
label
Targeted next-generation seque ...... may influence disease severity
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Targeted next-generation seque ...... may influence disease severity
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prefLabel
Targeted next-generation seque ...... may influence disease severity
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Targeted next-generation seque ...... may influence disease severity
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P2093
P2860
P50
P356
P1476
Targeted next-generation seque ...... may influence disease severity
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P2093
Daniel Trujillano
Gema Ariceta
Gemma Bullich
Gloria Fraga
José Ballarín
Santiago Mendizábal
Sheila Santín
P2860
P2888
P304
P356
10.1038/EJHG.2014.252
P577
2014-11-19T00:00:00Z