(Q24540483)

6 July 2017

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

1 reference

6 July 2017

1 reference

11

1 reference

6 July 2017

Omran H

1

1 reference

6 July 2017

Fernandez C

2

1 reference

6 July 2017

Jung M

3

1 reference

6 July 2017

Häffner K

4

1 reference

6 July 2017

Fargier B

5

1 reference

6 July 2017

Villaquiran A

6

1 reference

6 July 2017

Waldherr R

7

1 reference

6 July 2017

Gretz N

8

1 reference

6 July 2017

Brandis M

9

1 reference

6 July 2017

Rüschendorf F

10

1 reference

6 July 2017

Hildebrandt F

12

1 reference

6 July 2017

language of work or name

English

0 references

publication date

1 January 2000

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

66

1 reference

6 July 2017

118-127

1 reference

6 July 2017

1

1 reference

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

Molecular cloning and chromosomal localisation of the human homologue of a receptor related to tyrosine kinases (RYK)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

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=1360127

Strategies for multilocus linkage analysis in humans

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

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=1360127

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

slit: an extracellular protein necessary for development of midline glia and commissural axon pathways contains both EGF and LRR domains

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

24 March 2017

https://api.crossref.org/works/10.1086%2F302705

7 January 2021

inferred from DOI database lookup

Receptor protein tyrosine kinases in perinatal developing rat kidney

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

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=1360127

Comprehensive human genetic maps: individual and sex-specific variation in recombination

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

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=1360127

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=1360127

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=1360127

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=1360127

Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

A metric map of humans: 23,500 loci in 850 bands

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

Ultrasound findings in 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=1360127

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=1360127

Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

Congenital hepatic fibrosis and nephronophthisis. A family study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

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=1360127

Chronic renal insufficiency in children and adolescents: the 1996 annual report of NAPRTCS. North American Pediatric Renal Transplant Cooperative Study.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

Infantile nephronophthisis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

Faster linkage analysis computations for pedigrees with loops or unused alleles.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360127

Protein tyrosine kinases expressed in glomeruli and cultured glomerular cells: Flt-1 and VEGF expression in renal mesangial cells

29 November 2018

1 reference

12 December 2020

Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease

1 reference

12 December 2020

Identification of a gene for nephronophthisis

1 reference

12 December 2020

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

1 reference

12 December 2020

FAMILIAL NEPHROPATHY WITH RETINITIS PIGMENTOSA; A NEW OCULORENAL SYNDROME IN ADULTS

1 reference

12 December 2020

Hereditary Occurrence of Cystic Disease of the Renal Medulla

1 reference

12 December 2020

Medullary Cystic Disease and Familial Juvenile Nephronophthisis

1 reference

12 December 2020

Evolution of Clinical Signs in Adult-Onset Cystic Disease of the Renal Medulla

1 reference

12 December 2020

Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families

1 reference

12 December 2020

1 reference

12 December 2020

The nephronophthisis complex. A clinicopathologic study in children

1 reference

12 December 2020

[Adult nephronophthisis: a single disease or 2 diseases?]

1 reference

12 December 2020

Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

1 reference

12 December 2020

How to assess the rate of progression of chronic renal failure in children?

1 reference

12 December 2020

Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302705

7 January 2021

inferred from DOI database lookup

Nonparametric Estimation from Incomplete Observations

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302705

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302705

1 reference

6 July 2017

1 reference

6 July 2017

1 reference