A systematic approach to mapping recessive disease genes in individuals from outbred populations (Q21145017)

17 August 2022

Friedhelm Hildebrandt

1

object named as

Friedhelm Hildebrandt

Friedhelm

Hildebrandt

1 reference

17 August 2022

5

Gudrun Nürnberg

Gudrun

Nürnberg

1 reference

17 August 2022

3

Franz Rüschendorf

Franz

Rüschendorf

1 reference

17 August 2022

28

Edgar A Otto

Edgar A

Otto

1 reference

17 August 2022

Massimo Attanasio

4

Massimo

Attanasio

1 reference

17 August 2022

Dominik Seelow

7

Dominik

Seelow

1 reference

17 August 2022

21

Virginia Vega-Warner

Virginia

Vega-Warner

1 reference

17 August 2022

6

Christian Becker

Christian

Becker

1 reference

17 August 2022

2

Saskia F

Heeringa

Saskia F Heeringa

1 reference

17 August 2022

9

Gil

Chernin

Gil Chernin

1 reference

17 August 2022

Christopher N Vlangos

10

Christopher N

Vlangos

Christopher N Vlangos

1 reference

17 August 2022

13

Bethan E

Hoskins

Bethan E Hoskins

1 reference

17 August 2022

15

Bernward G

Hinkes

Bernward G Hinkes

1 reference

17 August 2022

16

Hassan

Chaib

Hassan Chaib

1 reference

17 August 2022

17

Shazia

Ashraf

Shazia Ashraf

1 reference

17 August 2022

18

Dominik S

Schoeb

Dominik S Schoeb

1 reference

17 August 2022

19

Bugsu

Ovunc

Bugsu Ovunc

1 reference

17 August 2022

Norbert Huebner

8

Norbert

Huebner

1 reference

17 August 2022

Weibin Zhou

11

Weibin

Zhou

1 reference

17 August 2022

John F O'Toole

12

John F

O'Toole

1 reference

17 August 2022

Matthias T F Wolf

14

Matthias T F

Wolf

1 reference

17 August 2022

Susan J Allen

20

Susan J

Allen

1 reference

17 August 2022

Eric Wise

22

Eric

Wise

1 reference

17 August 2022

Heather M Harville

23

Heather M

Harville

1 reference

17 August 2022

Robert H Lyons

24

Robert H

Lyons

1 reference

17 August 2022

Joseph Washburn

25

Joseph

Washburn

1 reference

17 August 2022

James Macdonald

26

James

Macdonald

1 reference

Creative Commons Attribution 4.0 International

17 August 2022

language of work or name

English

0 references

publication date

January 2009

0 references

published in

PLOS Genetics

0 references

volume

5

0 references

issue

1

0 references

page(s)

e1000353

0 references

copyright license

start time

23 January 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Runs of homozygosity in European populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Allegro, a new computer program for multipoint linkage analysis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Genome-wide in situ exon capture for selective resequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

10 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

New perspectives for the elucidation of genetic disorders

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Nephronophthisis-associated ciliopathies

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Allele-sharing models: LOD scores and accurate linkage tests

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621355

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

12 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000353

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000353

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS)

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000353

Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/19165332

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Primary nephrotic syndrome in children: clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. A Report of the International Study of Kidney Disease in Children

1 reference

https://pubmed.ncbi.nlm.nih.gov/19165332

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1000353

0 references

Fatcat ID

release_7loyyvztczcujghqyv2js3ioka

0 references

PMC publication ID

2621355

0 references