(Q41477946)

1 October 2017

Exclusion of eight genes as mutated loci in congenital nephrotic syndrome of the Finnish type (English)

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1 October 2017

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3

C Holmberg

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1 October 2017

M Kestilä

1

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1 October 2017

M Männikkö

2

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1 October 2017

K Korpela

4

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1 October 2017

E R Savolainen

5

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1 October 2017

L Peltonen

6

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1 October 2017

K Tryggvason

7

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1 October 2017

language of work or name

English

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publication date

1 April 1994

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1 October 2017

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1 October 2017

45

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1 October 2017

4

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1 October 2017

986-990

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https://scigraph.springernature.com/pub.10.1038/ki.1994.133

1 October 2017

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cites work

Main features of the congenital nephrotic syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Congenital nephrotic syndrome of Finnish type. Study of 75 patients

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Protein and lipid metabolism in nephrotic infants on peritoneal dialysis after nephrectomy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Congenital nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Structure and biological activity of basement membrane proteins

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Human laminin A chain (LAMA) gene: chromosomal mapping to locus 18p11.3

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Isolation of a human laminin B2 (LAMB2) cDNA clone and assignment of the gene to chromosome region 1q25----q31

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Distribution of annionic sites in glomerular basement membranes: their possible role in filtration and attachment

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Heparan sulfate--rich anionic sites in the human glomerular basement membrane. Decreased concentration in congenital nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

The glycosaminoglycan content of renal basement membranes in the congenital nephrotic syndrome of the Finnish type

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Cloning of human heparan sulfate proteoglycan core protein, assignment of the gene (HSPG2) to 1p36.1→p35 and identification of a BamHI restriction fragment length polymorphism

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

A HindIII polymorphism in the 3' end of the human alpha 1(IV) collagen gene

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

High recombination between two physically close human basement membrane collagen genes at the distal end of chromosome 13q.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

A Hpa I polymorphism in the human laminin B1 chain gene on 7q22

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

A Pst I polymorphism in the human laminin B2 chain gene on 1q25-q31.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Strategies for multilocus linkage analysis in humans

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Human basement membrane heparan sulfate proteoglycan core protein: a 467-kD protein containing multiple domains resembling elements of the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Molecular genetics of Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Transgenic mouse model of kidney disease: Insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Deregulation of Pax-2 expression in transgenic mice generates severe kidney abnormalities.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Congenital nephrotic syndrome of the Finnish type is not associated with the Pax-2 gene despite the promising transgenic animal model

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Congenital nephrosis of the Finnish type (CNF): matrix components of the glomerular basement membranes and of cultured mesangial cells

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.133

7 January 2021

Identifiers

DOI

10.1038/KI.1994.133

1 reference

1 October 2017

1 reference