(Q35793517)

10 August 2017

Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing (English)

1 reference

10 August 2017

1 reference

Khaldoun I Al-Romaih

1

1 reference

10 August 2017

Giulio Genovese

2

1 reference

10 August 2017

Hamad Al-Mojalli

3

1 reference

10 August 2017

Saleh Al-Othman

4

1 reference

10 August 2017

Hadeel Al-Manea

5

1 reference

10 August 2017

Mohammed Al-Suleiman

6

1 reference

10 August 2017

Mohammed Al-Jondubi

7

1 reference

10 August 2017

Nourah Atallah

8

1 reference

10 August 2017

Maha Al-Rodayyan

9

1 reference

10 August 2017

Astrid Weins

10

1 reference

10 August 2017

Martin R Pollak

11

1 reference

10 August 2017

Chaker N Adra

12

1 reference

10 August 2017

12 June 2011

1 reference

American Journal of Kidney Diseases

10 August 2017

1 reference

10 August 2017

58

1 reference

10 August 2017

2

1 reference

10 August 2017

186-195

1 reference

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

Exome sequencing identifies the cause of a mendelian disorder

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

Fast and accurate short read alignment with Burrows-Wheeler transform

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

Patients with ACTN4 mutations demonstrate distinctive features of glomerular injury.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

Nephronophthisis: disease mechanisms of a ciliopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

The genetic basis of FSGS and steroid-resistant nephrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

Pathologic classification of focal segmental glomerulosclerosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

Inherited podocytopathies: FSGS and nephrotic syndrome from a genetic viewpoint

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291334

Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases

12 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21658830

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21658830

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1053/J.AJKD.2011.01.025

1 reference

10 August 2017

1 reference

10 August 2017

1 reference