(Q35959709)

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Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

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23 February 2020

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25407002%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

nephrotic syndrome

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inferred from title

Xavier Estivill i Pallejà

11

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23 February 2020

Stephan Ossowski

4

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23 February 2020

7

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23 February 2020

10

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23 February 2020

12

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23 February 2020

author name string

Gemma Bullich

1

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23 February 2020

Daniel Trujillano

2

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23 February 2020

Sheila Santín

3

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Europe PubMed Central

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23 February 2020

Santiago Mendizábal

5

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23 February 2020

Gloria Fraga

6

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23 February 2020

Gema Ariceta

8

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Europe PubMed Central

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23 February 2020

José Ballarín

9

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Europe PubMed Central

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23 February 2020

publication date

19 November 2014

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23 February 2020

European Journal of Human Genetics

1 reference

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23 February 2020

23

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23 February 2020

9

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25407002%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1192-1199

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25407002%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.252

0 references

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

LMX1B mutations cause hereditary FSGS without extrarenal involvement

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

ARHGDIA: a novel gene implicated in nephrotic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Genetic testing in nephrotic syndrome--challenges and opportunities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Copy number variation detection and genotyping from exome sequence data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

MYO1E mutations and childhood familial focal segmental glomerulosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Focal and segmental glomerulosclerosis: definition and relevance of a partial remission

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Thin basement membrane nephropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Genetic models: clues for understanding the pathogenesis of idiopathic nephrotic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

2 October 2017

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

11 July 2018

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

11 July 2018

WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

11 July 2018

In silico prediction of splice-affecting nucleotide variants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

24 September 2018

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

24 September 2018

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

24 September 2018

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 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

24 September 2018

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538209

24 September 2018

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.252

21 January 2018

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.252

21 January 2018

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25407002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/25407002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of disease in familial focal and segmental glomerulosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25407002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children. Arbeitsgemeinschaft für Pädiatrische Nephrologie

1 reference

https://pubmed.ncbi.nlm.nih.gov/25407002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/25407002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/25407002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25407002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2014.252

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25407002%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25407002%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25407002%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

ResearchGate publication ID

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