(Q35571479)

8 August 2017

title

A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome (English)

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8 August 2017

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3

Noralane M Lindor

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8 August 2017

Brian G Mohney

1

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8 August 2017

Jose S Pulido

2

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8 August 2017

Marie C Hogan

4

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8 August 2017

Mark B Consugar

5

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8 August 2017

Justin Peters

6

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8 August 2017

V Shane Pankratz

7

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8 August 2017

Samih H Nasr

8

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8 August 2017

Stephen J Smith

9

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8 August 2017

James Gloor

10

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8 August 2017

Vickie Kubly

11

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8 August 2017

Dorothy Spencer

12

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8 August 2017

Rebecca Nielson

13

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8 August 2017

Erik G Puffenberger

14

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8 August 2017

Kevin A Strauss

15

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8 August 2017

D Holmes Morton

16

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8 August 2017

Lama Eldahdah

17

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8 August 2017

Peter C Harris

18

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8 August 2017

publication date

13 January 2011

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8 August 2017

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8 August 2017

volume

118

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8 August 2017

issue

6

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8 August 2017

page(s)

1137-1144

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

Variable phenotype of Pierson syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

A second-generation combined linkage physical map of the human genome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

Prediction of deleterious human alleles

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

Laminins: structure and genetic regulation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

Laminin expression in adult and developing retinae: evidence of two novel CNS laminins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

A laminin-like adhesive protein concentrated in the synaptic cleft of the neuromuscular junction

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

Ophthalmological aspects of Pierson syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

A milder variant of Pierson syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

Disruption of laminin beta2 chain production causes alterations in morphology and function in the CNS.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

[AN UNUSUAL CONGENITAL AND FAMILIAL CONGENITAL MALFORMATIVE COMBINATION INVOLVING THE EYE AND KIDNEY.]

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3223484

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

15 November 2018

1 reference

12 December 2020

Distribution of Laminins in the Developing Human Eye

1 reference

12 December 2020

Pierson syndrome: a novel cause of congenital nephrotic syndrome

1 reference

12 December 2020

A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2

1 reference

12 December 2020

10.1016/J.OPHTHA.2010.10.009

Identifiers

DOI

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8 August 2017

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8 August 2017

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