Genetic screening in adolescents with steroid-resistant nephrotic syndrome (Q45309971)

12 December 2017

Genetic screening in adolescents with steroid-resistant nephrotic syndrome (English)

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12 December 2017

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Bassam Saeed

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Paraskevas Iatropoulos

Paraskevas Iatropoulos

Beata S Lipska-Ziętkiewicz

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Beata S Lipska

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Marcin Tkaczyk

Marcin Tkaczyk

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Maria Szczepanska

Maria Szczepanska

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Gian Marco Ghiggeri

Gian Marco Ghiggeri

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Augustina Jankauskiene

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Augustina Jankauskiene

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Dorota Drozdz

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Fatih Ozaltin

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Elisa Benetti

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Radovan Bogdanovic

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Faysal Gok

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Sevgi Mir

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Gianluigi Ardissino

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Eva Simkova

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Ramona Maranta

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Ali Anarat

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Ayse Balat

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Jutta Gellermann

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Agnes Trautmann

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Ozlem Erdogan

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Sevinc Emre

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Marta Azocar

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Irena Balasz-Chmielewska

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Salim Caliskan

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Anette Melk

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Pelin Ertan

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Esra Baskin

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Helena Jardim

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Tinatin Davitaia

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Anna Wasilewska

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Lina Maria Serna Higuita

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Ozan Ozkaya

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Elzbieta Kuzma-Mroczkowska

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Oguz Soylemezoglu

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Bruno Ranchin

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Anna Medynska

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Amira Peco-Antic

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Ipek Akil

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Tomasz Jarmolinski

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Agnieszka Firszt-Adamczyk

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Jiri Dusek

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Giacomo D Simonetti

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Alaleh Gheissari

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Francesco Emma

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Rafael T Krmar

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Michel Fischbach

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Nikoleta Printza

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Caterina Mele

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Franz Schaefer

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PodoNet Consortium

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language of work or name

English

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publication date

20 March 2013

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206-213

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https://scigraph.springernature.com/pub.10.1038/ki.2013.93

12 December 2017

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cites work

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

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://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

A novel TRPC6 mutation that causes childhood FSGS.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Genetic variation in APOL1 associates with younger age at hemodialysis initiation

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Crystal Structure of the Formin mDia1 in Autoinhibited Conformation

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

NPHS2 variation in sporadic focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Variable renal phenotype in a family with an INF2 mutation

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

MYO1E mutations and childhood familial focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Disruption of PTPRO causes childhood-onset nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

OMA 2011: orthology inference among 1000 complete genomes

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

A new bioinformatics analysis tools framework at EMBL-EBI.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1038%2FKI.2013.93

7 January 2021

Identifiers

DOI

10.1038/KI.2013.93

1 reference

Dimensions Publication ID

12 December 2017

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1 reference