(Q55671186)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16912710%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders (English)

1 reference

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28 December 2019

2

1 reference

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28 December 2019

Brigitte Royer-Pokora

15

object named as

Royer-Pokora B

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16912710%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

author name string

Hasselbacher K

1

1 reference

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28 December 2019

Matejas V

3

1 reference

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28 December 2019

Hinkes BG

4

1 reference

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28 December 2019

Mucha B

5

1 reference

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28 December 2019

Hoskins BE

6

1 reference

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28 December 2019

Ozaltin F

7

1 reference

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28 December 2019

Nürnberg G

8

1 reference

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28 December 2019

Becker C

9

1 reference

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28 December 2019

Hangan D

10

1 reference

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28 December 2019

Pohl M

11

1 reference

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28 December 2019

Kuwertz-Bröking E

12

1 reference

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28 December 2019

Griebel M

13

1 reference

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28 December 2019

Schumacher V

14

1 reference

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28 December 2019

Bakkaloglu A

16

1 reference

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28 December 2019

Nürnberg P

17

1 reference

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28 December 2019

Zenker M

18

1 reference

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28 December 2019

Hildebrandt F

19

1 reference

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28 December 2019

language of work or name

English

0 references

publication date

16 August 2006

1 reference

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28 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16912710%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

volume

70

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16912710%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

page(s)

1008-1012

1 reference

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28 December 2019

issue

6

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ki.5001679

28 December 2019

exact match

0 references

cites work

Nephrotic syndrome in the 1st year of life

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001679

7 January 2021

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001679

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001679

7 January 2021

Getting a foothold in nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001679

7 January 2021

Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001679

7 January 2021

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001679

7 January 2021

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001679

7 January 2021

Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001679

7 January 2021

Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001679

7 January 2021

The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001679

7 January 2021

Familial infantile nephrotic syndrome with ocular abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001679

7 January 2021

Laminin polymerization induces a receptor-cytoskeleton network

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001679

7 January 2021

Identifiers

DOI

10.1038/SJ.KI.5001679

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16912710%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

28 December 2019

0 references

1 reference