(Q24563846)

12

0 references

Friedhelm Hildebrandt

13

0 references

Heymut Omran

11

0 references

Franz Rüschendorf

5

0 references

Edgar A. Otto

2

0 references

Julia Hoefele

8

object named as

Julia Hoefele

0 references

Maria J Schuermann

1

object named as

Maria J Schuermann

0 references

author name string

Achim Becker

3

0 references

Katrin Saar

4

0 references

Bettine C Polak

6

0 references

Sirpa Ala-Mello

7

0 references

Alexander Wiedensohler

9

0 references

Maria Haller

American Journal of Human Genetics

10

0 references

language of work or name

English

0 references

publication date

May 2002

0 references

published in

0 references

volume

70

0 references

issue

5

0 references

page(s)

1240-6

0 references

cites work

Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2

1 reference

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Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans

24 March 2017

1 reference

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

24 March 2017

1 reference

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A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping

24 March 2017

1 reference

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

Molecular genetics of nephronophthisis and medullary cystic kidney disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

Parametric and nonparametric linkage analysis: a unified multipoint approach

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

Easy calculations of lod scores and genetic risks on small computers

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

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=447598

Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

Hereditary renal dysplasia and blindness

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

Possibility of EB virus preferentially transforming a subpopulation of human B lymphocytes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

LODVIEW: a computer program for the graphical evaluation of lod score results in exclusion mapping of human disease genes.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

Treatment of end-stage renal disease in children: a 15-year experience

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447598

[Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney).]

28 November 2018

1 reference

12 December 2020

Testing for gene-gene interaction controlling total IgE in families from Barbados: evidence of sensitivity regarding linkage heterogeneity among families

1 reference

12 December 2020

The nephronophthisis complex. A clinicopathologic study in children

1 reference

12 December 2020

Carrier detection in tapetoretinal degeneration in association with medullary cystic disease

1 reference

12 December 2020

Report of the Committee on Methods of Linkage Analysis and Reporting

1 reference

12 December 2020

Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F340317

7 January 2021