Genetics of hereditary nephrotic syndrome: a clinical review (Q37740511)

22 August 2017

Genetics of hereditary nephrotic syndrome: a clinical review (English)

1 reference

22 August 2017

1 reference

Tae-Sun Ha

1 reference

22 August 2017

27 March 2017

1 reference

Korean journal of pediatrics

22 August 2017

1 reference

22 August 2017

1 reference

22 August 2017

1 reference

22 August 2017

55-63

1 reference

PMC publication ID

5383633

Creative Commons Attribution-NonCommercial 4.0 International

22 August 2017

start time

1 January 2017

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

cites work

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Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era

22 August 2017

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Genes and podocytes - new insights into mechanisms of podocytopathy

22 August 2017

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A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

22 August 2017

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Genetic-based prediction of disease traits: prediction is very difficult, especially about the future

22 August 2017

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22 August 2017

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Defining nephrotic syndrome from an integrative genomics perspective

22 August 2017

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22 August 2017

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Roles of adaptor proteins in podocyte biology

22 August 2017

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LMX1B mutations cause hereditary FSGS without extrarenal involvement

22 August 2017

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Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome

22 August 2017

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Genetic testing in nephrotic syndrome--challenges and opportunities

22 August 2017

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Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice

22 August 2017

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INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

22 August 2017

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Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome

22 August 2017

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Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

22 August 2017

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Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

22 August 2017

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Molecular make-up of the glomerular filtration barrier

22 August 2017

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22 August 2017

Genetic kidney diseases

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Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations

22 August 2017

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Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

22 August 2017

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Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier

22 August 2017

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Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life

22 August 2017

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22 August 2017

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22 August 2017

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Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome

22 August 2017

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22 August 2017

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22 August 2017

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A proposed taxonomy for the podocytopathies: a reassessment of the primary nephrotic diseases

22 August 2017

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22 August 2017

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Genetics of focal segmental glomerulosclerosis

22 August 2017

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22 August 2017

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Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

22 August 2017

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22 August 2017

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22 August 2017

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Podocyte biology and response to injury

22 August 2017

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Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

22 August 2017

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Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

22 August 2017

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Understanding podocytopathy and its relevance to clinical nephrology

22 August 2017

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Next-generation sequencing for research and diagnostics in kidney disease

22 August 2017

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Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing

22 August 2017

1 reference

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Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5383633

The podocyte cytoskeleton--key to a functioning glomerulus in health and disease

22 August 2017

1 reference

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Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy

22 August 2017

1 reference

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Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5383633

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5383633

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5383633

High incidence of initial and late steroid resistance in childhood nephrotic syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5383633

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5383633

High incidence of focal segmental glomerulosclerosis in nephrotic syndrome of childhood

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5383633

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5383633

The glomerular slit diaphragm is a modified adherens junction

3 December 2018

1 reference

12 December 2020

Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients

1 reference

12 December 2020

Genetics in clinical practice: nephrotic and proteinuric syndromes

1 reference

12 December 2020

1 reference

12 December 2020

Clinical and pathologic features of familial focal segmental glomerulosclerosis

1 reference

12 December 2020

Identifiers

DOI

10.3345/KJP.2017.60.3.55

1 reference

22 August 2017

1 reference

PMC publication ID

5383633

22 August 2017

PubMed publication ID

28392820

1 reference

PMC publication ID

5383633