(Q24540018)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9918633 AND SRC:MED&resulttype=core&format=json

9 December 2019

title

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations (English)

1 reference

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9 December 2019

0 references

0 references

1 reference

5

1 reference

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9 December 2019

Corinne Antignac

7

1 reference

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9 December 2019

author name string

U Lenkkeri

1

1 reference

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9 December 2019

M Männikkö

2

1 reference

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9 December 2019

P McCready

3

1 reference

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9 December 2019

J Lamerdin

4

1 reference

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9 December 2019

P M Niaudet

6

1 reference

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9 December 2019

C E Kashtan

8

1 reference

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9 December 2019

C Homberg

9

1 reference

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9 December 2019

A Olsen

10

1 reference

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9 December 2019

M Kestilä

11

1 reference

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9 December 2019

K Tryggvason

12

1 reference

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9 December 2019

language of work or name

English

0 references

publication date

1 January 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9918633 AND SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

9 December 2019

published in

1 reference

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9 December 2019

volume

64

1 reference

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9 December 2019

issue

1

1 reference

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9 December 2019

page(s)

51-61

1 reference

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Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome

9 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Genomic organization of the melanoma-associated glycoprotein MUC18: implications for the evolution of the immunoglobulin domains

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Cloning of the complete gene for carcinoembryonic antigen: analysis of its promoter indicates a region conveying cell type-specific expression

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Prediction of complete gene structures in human genomic DNA

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Structural organization of the gene for the alpha 1 chain of human type IV collagen

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Predicting internal exons by oligonucleotide composition and discriminant analysis of spliceable open reading frames

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Management of congenital nephrotic syndrome of the Finnish type

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Blot hybridisation analysis of genomic DNA

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Heredity in the congenital nephrotic syndrome. A genetic study of 57 finnish FAMILIES WITH A REVIEW OF REPORTED CASES

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Organization of the neural cell adhesion molecule (N-CAM) gene: alternative exon usage as the basis for different membrane-associated domains

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Evolution of class-I MHC genes and proteins: from natural selection to thymic selection

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Gene structure, chromosomal location, and basis for alternative mRNA splicing of the human VCAM1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Structure of mouse myelin-associated glycoprotein gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Congenital nephrotic syndrome of Finnish type. Study of 75 patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Congenital nephrotic syndrome: prenatal diagnosis and genetic counselling by estimation of aminotic-fluid and maternal serum alpha-fetoprotein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

The Finnish population structure A genetic and genealogical 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=1377702

SIGNAL SCAN: a computer program that scans DNA sequences for eukaryotic transcriptional elements

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Renal transplantation in small children with congenital nephrotic syndrome of the Finnish type.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377702

Nephrotic syndrome in newborn and young infants

30 May 2018

1 reference

12 December 2020

Congenital nephrosis as a cause of elevated alpha-fetoprotein

1 reference

12 December 2020

Congenital nephrotic syndrome: evolution of medical management and results of renal transplantation

1 reference

12 December 2020

Haplotype analysis of congenital nephrotic syndrome of the Finnish type in non-Finnish families

1 reference

12 December 2020

Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis

1 reference

12 December 2020

Identifiers

DOI

10.1086/302182

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9918633 AND SRC:MED&resulttype=core&format=json

9 December 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9918633 AND SRC:MED&resulttype=core&format=json

9 December 2019

PubMed publication ID

9918633

2 references